Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Abnormality of skin pigmentation (HP:0001000)help
..Starting node
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Hyperpigmentation of the skin (HP:0000953)help
Term ID: 953
Name: Hyperpigmentation of the skin
Synonym: Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Melanoderma; Melanodermia; Patchy darkened skin; Skin hyperpigmentation
Definition: A darkening of the skin related to an increase in melanin production and deposition.
Comments:
Reference: HP:0000953
Genes and Diseases:
 
       Child Nodes:
........expandHyperpigmentation in sun-exposed areas (HP:0005586) help
................... HP:0007603 Freckles in sun-exposed areas
........expandIrregular hyperpigmentation (HP:0007400) help
................... HP:0001034 Hypermelanotic macule
................... HP:0005336 Forehead hyperpigmentation
................... HP:0005585 Spotty hyperpigmentation
................... HP:0007406 Hyperpigmentation of eyelids
................... HP:0007450 Increased groin pigmentation with raindrop depigmentation
................... HP:0007456 Progressive reticulate hyperpigmentation
................... HP:0007521 Irregular hyperpigmentation of back
................... HP:0007546 Linear hyperpigmentation
................... HP:0007572 Hyperpigmented streaks
................... HP:0007588 Reticular hyperpigmentation
................... HP:0100816 Lip hyperpigmentation
........expandGeneralized hyperpigmentation (HP:0007440) help
................... HP:0007574 Generalized bronze hyperpigmentation
................... HP:0007599 Generalized reticulate brown pigmentation
........expandProgressive hyperpigmentation (HP:0007505) help
........expandMixed hypo- and hyperpigmentation of the skin (HP:0009123) help
................... HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
................... HP:0007441 Hyperpigmented/hypopigmented macules
................... HP:0007450 Increased groin pigmentation with raindrop depigmentation
................... HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation
................... HP:0007509 Patchy hypo- and hyperpigmentation
........expandMelasma (HP:0025272) help

 Sister Nodes: 
..expandAbnormality of dermal melanosomes (HP:0011125) help
..expandBlotching pigmentation of the skin (HP:0007610) help
..expandDepigmentation/hyperpigmentation of skin (HP:0007483) help
..expandFine, reticulate skin pigmentation (HP:0007617) help
..expandFreckling (HP:0001480) help
..expandHypopigmentation of the skin (HP:0001010) help
..expandMelanocytic nevus (HP:0000995) help
..expandMottled pigmentation (HP:0001070) help
..expandNumerous pigmented freckles (HP:0007587) help
..expandPerioral hyperpigmentation (HP:0010802) help
..expandPeriorbital hyperpigmentation (HP:0001106) help
..expandPigmentation anomalies of sun-exposed skin (HP:0007623) help
..expandProfuse pigmented skin lesions (HP:0005587) help
..expandReticulated skin pigmentation (HP:0007427) help
..expandSymmetric great toe depigmentation (HP:0200015) help
..expandVitiligo (HP:0001045) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000953HP:0000953Hyperpigmentation of the skin0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000953HP:0000953Hyperpigmentation of the skin0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0000953HP:0000953Hyperpigmentation of the skin0ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditaria20
HP:0000953HP:0000953Hyperpigmentation of the skin0ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0000953HP:0000953Hyperpigmentation of the skin0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000953HP:0000953Hyperpigmentation of the skin0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0000953HP:0000953Hyperpigmentation of the skin0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0000953HP:0000953Hyperpigmentation of the skin0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0000953HP:0000953Hyperpigmentation of the skin0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0000953HP:0000953Hyperpigmentation of the skin0ACTB CL E G H60132ORPHA:64755Becker nevus syndrome72
HP:0000953HP:0000953Hyperpigmentation of the skin0ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1116
HP:0000953HP:0000953Hyperpigmentation of the skin0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000953HP:0000953Hyperpigmentation of the skin0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000953HP:0000953Hyperpigmentation of the skin0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000953HP:0000953Hyperpigmentation of the skin0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000953HP:0000953Hyperpigmentation of the skin0ALAS2 CL E G H212397ORPHA:75563X-linked sideroblastic anemiaHP:0040283 - Occasional72
HP:0000953HP:0000953Hyperpigmentation of the skin0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndrome87
HP:0000953HP:0000953Hyperpigmentation of the skin0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0000953HP:0000953Hyperpigmentation of the skin0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000953HP:0000953Hyperpigmentation of the skin0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0000953HP:0000953Hyperpigmentation of the skin0APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0000953HP:0000953Hyperpigmentation of the skin0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0000953HP:0000953Hyperpigmentation of the skin0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000953HP:0000953Hyperpigmentation of the skin0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040283 - Occasional39
HP:0000953HP:0000953Hyperpigmentation of the skin0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0000953HP:0000953Hyperpigmentation of the skin0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0000953HP:0000953Hyperpigmentation of the skin0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0000953HP:0000953Hyperpigmentation of the skin0ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0000953HP:0000953Hyperpigmentation of the skin0ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0000953HP:0000953Hyperpigmentation of the skin0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000953HP:0000953Hyperpigmentation of the skin0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0000953HP:0000953Hyperpigmentation of the skin0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0000953HP:0000953Hyperpigmentation of the skin0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0000953HP:0000953Hyperpigmentation of the skin0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0000953HP:0000953Hyperpigmentation of the skin0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0000953HP:0000953Hyperpigmentation of the skin0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040281 - Very frequent
HP:0000953HP:0000953Hyperpigmentation of the skin0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000953HP:0000953Hyperpigmentation of the skin0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000953HP:0000953Hyperpigmentation of the skin0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0000953HP:0000953Hyperpigmentation of the skin0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000953HP:0000953Hyperpigmentation of the skin0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000953HP:0000953Hyperpigmentation of the skin0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0000953HP:0000953Hyperpigmentation of the skin0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0000953HP:0000953Hyperpigmentation of the skin0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0000953HP:0000953Hyperpigmentation of the skin0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0000953HP:0000953Hyperpigmentation of the skin0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0000953HP:0000953Hyperpigmentation of the skin0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0000953HP:0000953Hyperpigmentation of the skin0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000953HP:0000953Hyperpigmentation of the skin0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0000953HP:0000953Hyperpigmentation of the skin0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0000953HP:0000953Hyperpigmentation of the skin0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0000953HP:0000953Hyperpigmentation of the skin0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0000953HP:0000953Hyperpigmentation of the skin0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0000953HP:0000953Hyperpigmentation of the skin0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0000953HP:0000953Hyperpigmentation of the skin0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0000953HP:0000953Hyperpigmentation of the skin0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0000953HP:0000953Hyperpigmentation of the skin0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoides
HP:0000953HP:0000953Hyperpigmentation of the skin0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0000953HP:0000953Hyperpigmentation of the skin0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0000953HP:0000953Hyperpigmentation of the skin0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000953HP:0000953Hyperpigmentation of the skin0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000953HP:0000953Hyperpigmentation of the skin0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0000953HP:0000953Hyperpigmentation of the skin0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000953HP:0000953Hyperpigmentation of the skin0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000953HP:0000953Hyperpigmentation of the skin0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0000953HP:0000953Hyperpigmentation of the skin0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000953HP:0000953Hyperpigmentation of the skin0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0000953HP:0000953Hyperpigmentation of the skin0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0000953HP:0000953Hyperpigmentation of the skin0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0000953HP:0000953Hyperpigmentation of the skin0CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0000953HP:0000953Hyperpigmentation of the skin0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000953HP:0000953Hyperpigmentation of the skin0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000953HP:0000953Hyperpigmentation of the skin0COL3A1 CL E G H12812201ORPHA:2500Acrogeria749
HP:0000953HP:0000953Hyperpigmentation of the skin0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0000953HP:0000953Hyperpigmentation of the skin0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000953HP:0000953Hyperpigmentation of the skin0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent6
HP:0000953HP:0000953Hyperpigmentation of the skin0CPOX CL E G H13712321OMIM:618892Harderoporphyria.72
HP:0000953HP:0000953Hyperpigmentation of the skin0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000953HP:0000953Hyperpigmentation of the skin0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000953HP:0000953Hyperpigmentation of the skin0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndromeHP:0040283 - Occasional4
HP:0000953HP:0000953Hyperpigmentation of the skin0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0000953HP:0000953Hyperpigmentation of the skin0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoides10
HP:0000953HP:0000953Hyperpigmentation of the skin0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0000953HP:0000953Hyperpigmentation of the skin0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0000953HP:0000953Hyperpigmentation of the skin0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000953HP:0000953Hyperpigmentation of the skin0CYBA CL E G H15352577ORPHA:379Chronic granulomatous disease27
HP:0000953HP:0000953Hyperpigmentation of the skin0CYBB CL E G H15362578ORPHA:379Chronic granulomatous disease111
HP:0000953HP:0000953Hyperpigmentation of the skin0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous disease
HP:0000953HP:0000953Hyperpigmentation of the skin0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0000953HP:0000953Hyperpigmentation of the skin0CYP11A1 CL E G H15832590OMIM:613743Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete.31
HP:0000953HP:0000953Hyperpigmentation of the skin0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0000953HP:0000953Hyperpigmentation of the skin0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency.112
HP:0000953HP:0000953Hyperpigmentation of the skin0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040282 - Frequent112
HP:0000953HP:0000953Hyperpigmentation of the skin0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0000953HP:0000953Hyperpigmentation of the skin0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0000953HP:0000953Hyperpigmentation of the skin0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000953HP:0000953Hyperpigmentation of the skin0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0000953HP:0000953Hyperpigmentation of the skin0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitis3
HP:0000953HP:0000953Hyperpigmentation of the skin0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0000953HP:0000953Hyperpigmentation of the skin0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0000953HP:0000953Hyperpigmentation of the skin0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0000953HP:0000953Hyperpigmentation of the skin0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0000953HP:0000953Hyperpigmentation of the skin0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0000953HP:0000953Hyperpigmentation of the skin0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0000953HP:0000953Hyperpigmentation of the skin0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000953HP:0000953Hyperpigmentation of the skin0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0000953HP:0000953Hyperpigmentation of the skin0FGFR3 CL E G H22613690ORPHA:53271Muenke syndrome145
HP:0000953HP:0000953Hyperpigmentation of the skin0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent29
HP:0000953HP:0000953Hyperpigmentation of the skin0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0000953HP:0000953Hyperpigmentation of the skin0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0000953HP:0000953Hyperpigmentation of the skin0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000953HP:0000953Hyperpigmentation of the skin0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0000953HP:0000953Hyperpigmentation of the skin0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0000953HP:0000953Hyperpigmentation of the skin0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0000953HP:0000953Hyperpigmentation of the skin0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0000953HP:0000953Hyperpigmentation of the skin0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0000953HP:0000953Hyperpigmentation of the skin0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0000953HP:0000953Hyperpigmentation of the skin0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0000953HP:0000953Hyperpigmentation of the skin0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammei7
HP:0000953HP:0000953Hyperpigmentation of the skin0GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0000953HP:0000953Hyperpigmentation of the skin0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0000953HP:0000953Hyperpigmentation of the skin0GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasia101
HP:0000953HP:0000953Hyperpigmentation of the skin0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000953HP:0000953Hyperpigmentation of the skin0GPNMB CL E G H104574462OMIM:617920Amyloidosis, primary localized cutaneous, 3
HP:0000953HP:0000953Hyperpigmentation of the skin0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000953HP:0000953Hyperpigmentation of the skin0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0000953HP:0000953Hyperpigmentation of the skin0H4C5 CL E G H83674790OMIM:619950
HP:0000953HP:0000953Hyperpigmentation of the skin0HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 215
HP:0000953HP:0000953Hyperpigmentation of the skin0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B15
HP:0000953HP:0000953Hyperpigmentation of the skin0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0000953HP:0000953Hyperpigmentation of the skin0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0000953HP:0000953Hyperpigmentation of the skin0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent11
HP:0000953HP:0000953Hyperpigmentation of the skin0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0000953HP:0000953Hyperpigmentation of the skin0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda38
HP:0000953HP:0000953Hyperpigmentation of the skin0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040281 - Very frequent38
HP:0000953HP:0000953Hyperpigmentation of the skin0HGD CL E G H30814892ORPHA:56Alkaptonuria77
HP:0000953HP:0000953Hyperpigmentation of the skin0HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2
HP:0000953HP:0000953Hyperpigmentation of the skin0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0000953HP:0000953Hyperpigmentation of the skin0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000953HP:0000953Hyperpigmentation of the skin0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040282 - Frequent2
HP:0000953HP:0000953Hyperpigmentation of the skin0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0000953HP:0000953Hyperpigmentation of the skin0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0000953HP:0000953Hyperpigmentation of the skin0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000953HP:0000953Hyperpigmentation of the skin0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0000953HP:0000953Hyperpigmentation of the skin0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0000953HP:0000953Hyperpigmentation of the skin0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0000953HP:0000953Hyperpigmentation of the skin0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000953HP:0000953Hyperpigmentation of the skin0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0000953HP:0000953Hyperpigmentation of the skin0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0000953HP:0000953Hyperpigmentation of the skin0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0000953HP:0000953Hyperpigmentation of the skin0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0000953HP:0000953Hyperpigmentation of the skin0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0000953HP:0000953Hyperpigmentation of the skin0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent46
HP:0000953HP:0000953Hyperpigmentation of the skin0IL6 CL E G H35696018OMIM:148000Kaposi sarcoma, susceptibility to2
HP:0000953HP:0000953Hyperpigmentation of the skin0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0000953HP:0000953Hyperpigmentation of the skin0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0000953HP:0000953Hyperpigmentation of the skin0INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type A229
HP:0000953HP:0000953Hyperpigmentation of the skin0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0000953HP:0000953Hyperpigmentation of the skin0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent4
HP:0000953HP:0000953Hyperpigmentation of the skin0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040284 - Very rare140
HP:0000953HP:0000953Hyperpigmentation of the skin0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000953HP:0000953Hyperpigmentation of the skin0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000953HP:0000953Hyperpigmentation of the skin0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0000953HP:0000953Hyperpigmentation of the skin0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0000953HP:0000953Hyperpigmentation of the skin0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0000953HP:0000953Hyperpigmentation of the skin0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000953HP:0000953Hyperpigmentation of the skin0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0000953HP:0000953Hyperpigmentation of the skin0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0000953HP:0000953Hyperpigmentation of the skin0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0000953HP:0000953Hyperpigmentation of the skin0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0000953HP:0000953Hyperpigmentation of the skin0KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumor327
HP:0000953HP:0000953Hyperpigmentation of the skin0KIT CL E G H38156342OMIM:606764Gastrointestinal stromal tumor.327
HP:0000953HP:0000953Hyperpigmentation of the skin0KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous327
HP:0000953HP:0000953Hyperpigmentation of the skin0KITLG CL E G H42546343OMIM:6199479
HP:0000953HP:0000953Hyperpigmentation of the skin0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0000953HP:0000953Hyperpigmentation of the skin0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000953HP:0000953Hyperpigmentation of the skin0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000953HP:0000953Hyperpigmentation of the skin0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000953HP:0000953Hyperpigmentation of the skin0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000953HP:0000953Hyperpigmentation of the skin0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0000953HP:0000953Hyperpigmentation of the skin0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0000953HP:0000953Hyperpigmentation of the skin0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndrome196
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos disease173
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT5 CL E G H38526442OMIM:179850Dowling-Degos disease173
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythemaHP:0040282 - Frequent173
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0000953HP:0000953Hyperpigmentation of the skin0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0000953HP:0000953Hyperpigmentation of the skin0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0000953HP:0000953Hyperpigmentation of the skin0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040282 - Frequent68
HP:0000953HP:0000953Hyperpigmentation of the skin0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0000953HP:0000953Hyperpigmentation of the skin0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0000953HP:0000953Hyperpigmentation of the skin0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional645
HP:0000953HP:0000953Hyperpigmentation of the skin0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0000953HP:0000953Hyperpigmentation of the skin0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000953HP:0000953Hyperpigmentation of the skin0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000953HP:0000953Hyperpigmentation of the skin0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0000953HP:0000953Hyperpigmentation of the skin0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0000953HP:0000953Hyperpigmentation of the skin0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0000953HP:0000953Hyperpigmentation of the skin0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0000953HP:0000953Hyperpigmentation of the skin0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000953HP:0000953Hyperpigmentation of the skin0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0000953HP:0000953Hyperpigmentation of the skin0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000953HP:0000953Hyperpigmentation of the skin0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0000953HP:0000953Hyperpigmentation of the skin0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000953HP:0000953Hyperpigmentation of the skin0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0000953HP:0000953Hyperpigmentation of the skin0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0000953HP:0000953Hyperpigmentation of the skin0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0000953HP:0000953Hyperpigmentation of the skin0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0000953HP:0000953Hyperpigmentation of the skin0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0000953HP:0000953Hyperpigmentation of the skin0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0000953HP:0000953Hyperpigmentation of the skin0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000953HP:0000953Hyperpigmentation of the skin0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0000953HP:0000953Hyperpigmentation of the skin0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000953HP:0000953Hyperpigmentation of the skin0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0000953HP:0000953Hyperpigmentation of the skin0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0000953HP:0000953Hyperpigmentation of the skin0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0000953HP:0000953Hyperpigmentation of the skin0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0000953HP:0000953Hyperpigmentation of the skin0MRAP CL E G H562461304OMIM:607398Glucocorticoid deficiency 2.26
HP:0000953HP:0000953Hyperpigmentation of the skin0MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0000953HP:0000953Hyperpigmentation of the skin0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0000953HP:0000953Hyperpigmentation of the skin0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0000953HP:0000953Hyperpigmentation of the skin0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0000953HP:0000953Hyperpigmentation of the skin0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional
HP:0000953HP:0000953Hyperpigmentation of the skin0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal disease35
HP:0000953HP:0000953Hyperpigmentation of the skin0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0000953HP:0000953Hyperpigmentation of the skin0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous disease13
HP:0000953HP:0000953Hyperpigmentation of the skin0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous disease67
HP:0000953HP:0000953Hyperpigmentation of the skin0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous disease37
HP:0000953HP:0000953Hyperpigmentation of the skin0NDUFB11 CL E G H5453920372OMIM:300952Linear skin defects with multiple congenital anomalies 33
HP:0000953HP:0000953Hyperpigmentation of the skin0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent3
HP:0000953HP:0000953Hyperpigmentation of the skin0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0000953HP:0000953Hyperpigmentation of the skin0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0000953HP:0000953Hyperpigmentation of the skin0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0000953HP:0000953Hyperpigmentation of the skin0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000953HP:0000953Hyperpigmentation of the skin0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000953HP:0000953Hyperpigmentation of the skin0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0000953HP:0000953Hyperpigmentation of the skin0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0000953HP:0000953Hyperpigmentation of the skin0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0000953HP:0000953Hyperpigmentation of the skin0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0000953HP:0000953Hyperpigmentation of the skin0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0000953HP:0000953Hyperpigmentation of the skin0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0000953HP:0000953Hyperpigmentation of the skin0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0000953HP:0000953Hyperpigmentation of the skin0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040281 - Very frequent187
HP:0000953HP:0000953Hyperpigmentation of the skin0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0000953HP:0000953Hyperpigmentation of the skin0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0000953HP:0000953Hyperpigmentation of the skin0NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosis144
HP:0000953HP:0000953Hyperpigmentation of the skin0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0000953HP:0000953Hyperpigmentation of the skin0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000953HP:0000953Hyperpigmentation of the skin0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0000953HP:0000953Hyperpigmentation of the skin0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0000953HP:0000953Hyperpigmentation of the skin0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000953HP:0000953Hyperpigmentation of the skin0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000953HP:0000953Hyperpigmentation of the skin0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0000953HP:0000953Hyperpigmentation of the skin0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0000953HP:0000953Hyperpigmentation of the skin0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0000953HP:0000953Hyperpigmentation of the skin0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0000953HP:0000953Hyperpigmentation of the skin0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0000953HP:0000953Hyperpigmentation of the skin0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0000953HP:0000953Hyperpigmentation of the skin0PAX6 CL E G H50808620ORPHA:2253Foveal hypoplasia-presenile cataract syndrome194
HP:0000953HP:0000953Hyperpigmentation of the skin0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0000953HP:0000953Hyperpigmentation of the skin0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000953HP:0000953Hyperpigmentation of the skin0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000953HP:0000953Hyperpigmentation of the skin0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0000953HP:0000953Hyperpigmentation of the skin0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0000953HP:0000953Hyperpigmentation of the skin0PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumor337
HP:0000953HP:0000953Hyperpigmentation of the skin0PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosis28
HP:0000953HP:0000953Hyperpigmentation of the skin0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0000953HP:0000953Hyperpigmentation of the skin0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000953HP:0000953Hyperpigmentation of the skin0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000953HP:0000953Hyperpigmentation of the skin0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000953HP:0000953Hyperpigmentation of the skin0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000953HP:0000953Hyperpigmentation of the skin0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0000953HP:0000953Hyperpigmentation of the skin0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000953HP:0000953Hyperpigmentation of the skin0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0000953HP:0000953Hyperpigmentation of the skin0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0000953HP:0000953Hyperpigmentation of the skin0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000953HP:0000953Hyperpigmentation of the skin0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0000953HP:0000953Hyperpigmentation of the skin0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos disease2
HP:0000953HP:0000953Hyperpigmentation of the skin0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0000953HP:0000953Hyperpigmentation of the skin0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos disease6
HP:0000953HP:0000953Hyperpigmentation of the skin0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0000953HP:0000953Hyperpigmentation of the skin0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040281 - Very frequent155
HP:0000953HP:0000953Hyperpigmentation of the skin0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0000953HP:0000953Hyperpigmentation of the skin0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0000953HP:0000953Hyperpigmentation of the skin0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0000953HP:0000953Hyperpigmentation of the skin0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000953HP:0000953Hyperpigmentation of the skin0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0000953HP:0000953Hyperpigmentation of the skin0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000953HP:0000953Hyperpigmentation of the skin0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0000953HP:0000953Hyperpigmentation of the skin0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0000953HP:0000953Hyperpigmentation of the skin0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos disease2
HP:0000953HP:0000953Hyperpigmentation of the skin0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms.20
HP:0000953HP:0000953Hyperpigmentation of the skin0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0000953HP:0000953Hyperpigmentation of the skin0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000953HP:0000953Hyperpigmentation of the skin0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000953HP:0000953Hyperpigmentation of the skin0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0000953HP:0000953Hyperpigmentation of the skin0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0000953HP:0000953Hyperpigmentation of the skin0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000953HP:0000953Hyperpigmentation of the skin0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0000953HP:0000953Hyperpigmentation of the skin0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0000953HP:0000953Hyperpigmentation of the skin0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0000953HP:0000953Hyperpigmentation of the skin0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000953HP:0000953Hyperpigmentation of the skin0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000953HP:0000953Hyperpigmentation of the skin0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0000953HP:0000953Hyperpigmentation of the skin0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0000953HP:0000953Hyperpigmentation of the skin0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0000953HP:0000953Hyperpigmentation of the skin0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040281 - Very frequent445
HP:0000953HP:0000953Hyperpigmentation of the skin0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000953HP:0000953Hyperpigmentation of the skin0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0000953HP:0000953Hyperpigmentation of the skin0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000953HP:0000953Hyperpigmentation of the skin0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0000953HP:0000953Hyperpigmentation of the skin0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000953HP:0000953Hyperpigmentation of the skin0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0000953HP:0000953Hyperpigmentation of the skin0RPS27 CL E G H623210416OMIM:617409DIAMOND-BLACKFAN ANEMIA 17; DBA171
HP:0000953HP:0000953Hyperpigmentation of the skin0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0000953HP:0000953Hyperpigmentation of the skin0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0000953HP:0000953Hyperpigmentation of the skin0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0000953HP:0000953Hyperpigmentation of the skin0SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria1
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHA CL E G H638910680ORPHA:44890Gastrointestinal stromal tumor304
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHB CL E G H639010681OMIM:606764Gastrointestinal stromal tumor.237
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHB CL E G H639010681ORPHA:44890Gastrointestinal stromal tumor237
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHC CL E G H639110682ORPHA:44890Gastrointestinal stromal tumor147
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHC CL E G H639110682OMIM:606764Gastrointestinal stromal tumor.147
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000953HP:0000953Hyperpigmentation of the skin0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0000953HP:0000953Hyperpigmentation of the skin0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000953HP:0000953Hyperpigmentation of the skin0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040282 - Frequent2
HP:0000953HP:0000953Hyperpigmentation of the skin0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000953HP:0000953Hyperpigmentation of the skin0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000953HP:0000953Hyperpigmentation of the skin0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndrome143
HP:0000953HP:0000953Hyperpigmentation of the skin0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000953HP:0000953Hyperpigmentation of the skin0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 148
HP:0000953HP:0000953Hyperpigmentation of the skin0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000953HP:0000953Hyperpigmentation of the skin0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000953HP:0000953Hyperpigmentation of the skin0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0000953HP:0000953Hyperpigmentation of the skin0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0000953HP:0000953Hyperpigmentation of the skin0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000953HP:0000953Hyperpigmentation of the skin0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0000953HP:0000953Hyperpigmentation of the skin0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040281 - Very frequent68
HP:0000953HP:0000953Hyperpigmentation of the skin0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000953HP:0000953Hyperpigmentation of the skin0SLC40A1 CL E G H3006110909ORPHA:139491Hemochromatosis type 456
HP:0000953HP:0000953Hyperpigmentation of the skin0SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0000953HP:0000953Hyperpigmentation of the skin0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup disease12
HP:0000953HP:0000953Hyperpigmentation of the skin0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0000953HP:0000953Hyperpigmentation of the skin0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P274
HP:0000953HP:0000953Hyperpigmentation of the skin0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000953HP:0000953Hyperpigmentation of the skin0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0000953HP:0000953Hyperpigmentation of the skin0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000953HP:0000953Hyperpigmentation of the skin0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0000953HP:0000953Hyperpigmentation of the skin0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000953HP:0000953Hyperpigmentation of the skin0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000953HP:0000953Hyperpigmentation of the skin0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000953HP:0000953Hyperpigmentation of the skin0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0000953HP:0000953Hyperpigmentation of the skin0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0000953HP:0000953Hyperpigmentation of the skin0SPINK5 CL E G H1100515464ORPHA:634Netherton syndrome100
HP:0000953HP:0000953Hyperpigmentation of the skin0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0000953HP:0000953Hyperpigmentation of the skin0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000953HP:0000953Hyperpigmentation of the skin0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0000953HP:0000953Hyperpigmentation of the skin0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0000953HP:0000953Hyperpigmentation of the skin0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0000953HP:0000953Hyperpigmentation of the skin0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 21
HP:0000953HP:0000953Hyperpigmentation of the skin0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0000953HP:0000953Hyperpigmentation of the skin0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0000953HP:0000953Hyperpigmentation of the skin0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0000953HP:0000953Hyperpigmentation of the skin0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000953HP:0000953Hyperpigmentation of the skin0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0000953HP:0000953Hyperpigmentation of the skin0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 148
HP:0000953HP:0000953Hyperpigmentation of the skin0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0000953HP:0000953Hyperpigmentation of the skin0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1238
HP:0000953HP:0000953Hyperpigmentation of the skin0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0000953HP:0000953Hyperpigmentation of the skin0TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0000953HP:0000953Hyperpigmentation of the skin0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndromeHP:0040283 - Occasional44
HP:0000953HP:0000953Hyperpigmentation of the skin0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0000953HP:0000953Hyperpigmentation of the skin0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 160
HP:0000953HP:0000953Hyperpigmentation of the skin0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0000953HP:0000953Hyperpigmentation of the skin0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0000953HP:0000953Hyperpigmentation of the skin0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0000953HP:0000953Hyperpigmentation of the skin0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0000953HP:0000953Hyperpigmentation of the skin0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0000953HP:0000953Hyperpigmentation of the skin0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoides
HP:0000953HP:0000953Hyperpigmentation of the skin0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0000953HP:0000953Hyperpigmentation of the skin0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0000953HP:0000953Hyperpigmentation of the skin0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent71
HP:0000953HP:0000953Hyperpigmentation of the skin0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0000953HP:0000953Hyperpigmentation of the skin0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0000953HP:0000953Hyperpigmentation of the skin0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000953HP:0000953Hyperpigmentation of the skin0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0000953HP:0000953Hyperpigmentation of the skin0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0000953HP:0000953Hyperpigmentation of the skin0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0000953HP:0000953Hyperpigmentation of the skin0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0000953HP:0000953Hyperpigmentation of the skin0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000953HP:0000953Hyperpigmentation of the skin0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000953HP:0000953Hyperpigmentation of the skin0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0000953HP:0000953Hyperpigmentation of the skin0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0000953HP:0000953Hyperpigmentation of the skin0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0000953HP:0000953Hyperpigmentation of the skin0TXNRD2 CL E G H1058718155OMIM:617825GLUCOCORTICOID DEFICIENCY 5; GCCD585
HP:0000953HP:0000953Hyperpigmentation of the skin0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0000953HP:0000953Hyperpigmentation of the skin0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0000953HP:0000953Hyperpigmentation of the skin0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0000953HP:0000953Hyperpigmentation of the skin0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0000953HP:0000953Hyperpigmentation of the skin0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040282 - Frequent31
HP:0000953HP:0000953Hyperpigmentation of the skin0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda31
HP:0000953HP:0000953Hyperpigmentation of the skin0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent41
HP:0000953HP:0000953Hyperpigmentation of the skin0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0000953HP:0000953Hyperpigmentation of the skin0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0000953HP:0000953Hyperpigmentation of the skin0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000953HP:0000953Hyperpigmentation of the skin0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000953HP:0000953Hyperpigmentation of the skin0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0000953HP:0000953Hyperpigmentation of the skin0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0000953HP:0000953Hyperpigmentation of the skin0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0000953HP:0000953Hyperpigmentation of the skin0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000953HP:0000953Hyperpigmentation of the skin0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000953HP:0000953Hyperpigmentation of the skin0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0000953HP:0000953Hyperpigmentation of the skin0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0000953HP:0000953Hyperpigmentation of the skin0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0000953HP:0000953Hyperpigmentation of the skin0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0000953HP:0000953Hyperpigmentation of the skin0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000953HP:0000953Hyperpigmentation of the skin0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0000953HP:0000953Hyperpigmentation of the skin0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040282 - Frequent83
HP:0000953HP:0025272Melasma1 CL E G H
HP:0000953HP:0007440Generalized hyperpigmentation1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040281 - Very frequent57
HP:0000953HP:0007400Irregular hyperpigmentation1ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditaria20
HP:0000953HP:0007400Irregular hyperpigmentation1ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0000953HP:0007400Irregular hyperpigmentation1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000953HP:0007400Irregular hyperpigmentation1ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0000953HP:0007440Generalized hyperpigmentation1ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent11
HP:0000953HP:0007400Irregular hyperpigmentation1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0000953HP:0007400Irregular hyperpigmentation1ACTB CL E G H60132ORPHA:64755Becker nevus syndrome72
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1116
HP:0000953HP:0007440Generalized hyperpigmentation1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040283 - Occasional95
HP:0000953HP:0007400Irregular hyperpigmentation1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000953HP:0007400Irregular hyperpigmentation1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0000953HP:0007440Generalized hyperpigmentation1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000953HP:0007440Generalized hyperpigmentation1ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0000953HP:0007400Irregular hyperpigmentation1ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000953HP:0007400Irregular hyperpigmentation1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0000953HP:0007400Irregular hyperpigmentation1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0000953HP:0007400Irregular hyperpigmentation1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0000953HP:0007400Irregular hyperpigmentation1ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0000953HP:0007400Irregular hyperpigmentation1ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0000953HP:0007400Irregular hyperpigmentation1ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0000953HP:0007440Generalized hyperpigmentation1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare5
HP:0000953HP:0007400Irregular hyperpigmentation1BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0000953HP:0007400Irregular hyperpigmentation1BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0000953HP:0007400Irregular hyperpigmentation1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0000953HP:0007440Generalized hyperpigmentation1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0000953HP:0007440Generalized hyperpigmentation1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000953HP:0007400Irregular hyperpigmentation1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000953HP:0007400Irregular hyperpigmentation1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000953HP:0007400Irregular hyperpigmentation1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000953HP:0007400Irregular hyperpigmentation1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000953HP:0007400Irregular hyperpigmentation1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0000953HP:0007400Irregular hyperpigmentation1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040281 - Very frequent5769
HP:0000953HP:0007400Irregular hyperpigmentation1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040281 - Very frequent7642
HP:0000953HP:0007400Irregular hyperpigmentation1BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0000953HP:0007400Irregular hyperpigmentation1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1086
HP:0000953HP:0007400Irregular hyperpigmentation1BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0000953HP:0007400Irregular hyperpigmentation1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0000953HP:0007400Irregular hyperpigmentation1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0000953HP:0007400Irregular hyperpigmentation1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0000953HP:0007400Irregular hyperpigmentation1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0000953HP:0007400Irregular hyperpigmentation1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0000953HP:0007400Irregular hyperpigmentation1CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040281 - Very frequent33
HP:0000953HP:0007400Irregular hyperpigmentation1CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional272
HP:0000953HP:0007400Irregular hyperpigmentation1CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0000953HP:0007400Irregular hyperpigmentation1CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0000953HP:0007400Irregular hyperpigmentation1CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040283 - Occasional
HP:0000953HP:0007400Irregular hyperpigmentation1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000953HP:0007400Irregular hyperpigmentation1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000953HP:0007400Irregular hyperpigmentation1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0000953HP:0007400Irregular hyperpigmentation1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000953HP:0007400Irregular hyperpigmentation1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000953HP:0007400Irregular hyperpigmentation1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0000953HP:0007400Irregular hyperpigmentation1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000953HP:0007400Irregular hyperpigmentation1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000953HP:0007400Irregular hyperpigmentation1CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0000953HP:0007400Irregular hyperpigmentation1CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0000953HP:0007400Irregular hyperpigmentation1CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040283 - Occasional
HP:0000953HP:0007400Irregular hyperpigmentation1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000953HP:0007400Irregular hyperpigmentation1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000953HP:0007400Irregular hyperpigmentation1COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040281 - Very frequent749
HP:0000953HP:0007400Irregular hyperpigmentation1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0000953HP:0007400Irregular hyperpigmentation1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000953HP:0007400Irregular hyperpigmentation1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000953HP:0007400Irregular hyperpigmentation1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000953HP:0007400Irregular hyperpigmentation1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0000953HP:0007400Irregular hyperpigmentation1CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent10
HP:0000953HP:0007400Irregular hyperpigmentation1CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040283 - Occasional10
HP:0000953HP:0007400Irregular hyperpigmentation1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0000953HP:0007400Irregular hyperpigmentation1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000953HP:0007400Irregular hyperpigmentation1CYBA CL E G H15352577ORPHA:379Chronic granulomatous disease27
HP:0000953HP:0007400Irregular hyperpigmentation1CYBB CL E G H15362578ORPHA:379Chronic granulomatous disease111
HP:0000953HP:0007400Irregular hyperpigmentation1CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous disease
HP:0000953HP:0007440Generalized hyperpigmentation1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000953HP:0007440Generalized hyperpigmentation1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000953HP:0007400Irregular hyperpigmentation1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0000953HP:0007400Irregular hyperpigmentation1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0000953HP:0007440Generalized hyperpigmentation1DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent65
HP:0000953HP:0007400Irregular hyperpigmentation1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0000953HP:0007400Irregular hyperpigmentation1DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0000953HP:0007400Irregular hyperpigmentation1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0000953HP:0005586Hyperpigmentation in sun-exposed areas1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0000953HP:0007400Irregular hyperpigmentation1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040281 - Very frequent158
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0000953HP:0007400Irregular hyperpigmentation1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0000953HP:0007400Irregular hyperpigmentation1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000953HP:0007400Irregular hyperpigmentation1FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0000953HP:0007400Irregular hyperpigmentation1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040281 - Very frequent340
HP:0000953HP:0007400Irregular hyperpigmentation1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040281 - Very frequent58
HP:0000953HP:0007400Irregular hyperpigmentation1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040281 - Very frequent410
HP:0000953HP:0007400Irregular hyperpigmentation1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0000953HP:0007400Irregular hyperpigmentation1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040281 - Very frequent147
HP:0000953HP:0007400Irregular hyperpigmentation1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000953HP:0007400Irregular hyperpigmentation1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0000953HP:0007400Irregular hyperpigmentation1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0000953HP:0007400Irregular hyperpigmentation1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040281 - Very frequent87
HP:0000953HP:0007400Irregular hyperpigmentation1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000953HP:0007400Irregular hyperpigmentation1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0000953HP:0007400Irregular hyperpigmentation1FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0000953HP:0007400Irregular hyperpigmentation1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040281 - Very frequent157
HP:0000953HP:0007400Irregular hyperpigmentation1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0000953HP:0007400Irregular hyperpigmentation1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040281 - Very frequent53
HP:0000953HP:0007400Irregular hyperpigmentation1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0000953HP:0007400Irregular hyperpigmentation1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040281 - Very frequent107
HP:0000953HP:0007400Irregular hyperpigmentation1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000953HP:0007400Irregular hyperpigmentation1FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0000953HP:0007400Irregular hyperpigmentation1FGFR3 CL E G H22613690ORPHA:53271Muenke syndrome145
HP:0000953HP:0007400Irregular hyperpigmentation1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0000953HP:0007400Irregular hyperpigmentation1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0000953HP:0007400Irregular hyperpigmentation1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0000953HP:0007440Generalized hyperpigmentation1GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040281 - Very frequent24
HP:0000953HP:0007400Irregular hyperpigmentation1GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional16
HP:0000953HP:0007400Irregular hyperpigmentation1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0000953HP:0007400Irregular hyperpigmentation1GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040281 - Very frequent7
HP:0000953HP:0007400Irregular hyperpigmentation1GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0000953HP:0007400Irregular hyperpigmentation1GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0000953HP:0007400Irregular hyperpigmentation1GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasia101
HP:0000953HP:0007400Irregular hyperpigmentation1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000953HP:0007400Irregular hyperpigmentation1GPNMB CL E G H104574462OMIM:617920Amyloidosis, primary localized cutaneous, 3
HP:0000953HP:0007440Generalized hyperpigmentation1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040283 - Occasional5
HP:0000953HP:0007400Irregular hyperpigmentation1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0000953HP:0007400Irregular hyperpigmentation1H4C5 CL E G H83674790OMIM:619950
HP:0000953HP:0007440Generalized hyperpigmentation1HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent15
HP:0000953HP:0005586Hyperpigmentation in sun-exposed areas1HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0000953HP:0007440Generalized hyperpigmentation1HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0000953HP:0007400Irregular hyperpigmentation1HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040281 - Very frequent77
HP:0000953HP:0007440Generalized hyperpigmentation1HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent
HP:0000953HP:0007400Irregular hyperpigmentation1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0000953HP:0005586Hyperpigmentation in sun-exposed areas1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0000953HP:0007440Generalized hyperpigmentation1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040283 - Occasional113
HP:0000953HP:0007400Irregular hyperpigmentation1HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent113
HP:0000953HP:0007400Irregular hyperpigmentation1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000953HP:0007400Irregular hyperpigmentation1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0000953HP:0007400Irregular hyperpigmentation1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0000953HP:0007400Irregular hyperpigmentation1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0000953HP:0007400Irregular hyperpigmentation1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0000953HP:0007400Irregular hyperpigmentation1IL6 CL E G H35696018OMIM:148000Kaposi sarcoma, susceptibility to2
HP:0000953HP:0007400Irregular hyperpigmentation1IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0000953HP:0007400Irregular hyperpigmentation1INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0000953HP:0007440Generalized hyperpigmentation1INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type AHP:0040281 - Very frequent229
HP:0000953HP:0007440Generalized hyperpigmentation1IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040283 - Occasional1
HP:0000953HP:0007400Irregular hyperpigmentation1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000953HP:0007400Irregular hyperpigmentation1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000953HP:0007440Generalized hyperpigmentation1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare13
HP:0000953HP:0007440Generalized hyperpigmentation1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare7
HP:0000953HP:0007400Irregular hyperpigmentation1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0000953HP:0007400Irregular hyperpigmentation1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000953HP:0007400Irregular hyperpigmentation1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0000953HP:0007400Irregular hyperpigmentation1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4
HP:0000953HP:0007400Irregular hyperpigmentation1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0000953HP:0007400Irregular hyperpigmentation1KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0000953HP:0007400Irregular hyperpigmentation1KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional327
HP:0000953HP:0007400Irregular hyperpigmentation1KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous327
HP:0000953HP:0007400Irregular hyperpigmentation1KITLG CL E G H42546343OMIM:6199479
HP:0000953HP:0007400Irregular hyperpigmentation1KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0000953HP:0007505Progressive hyperpigmentation1KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0000953HP:0007400Irregular hyperpigmentation1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000953HP:0007400Irregular hyperpigmentation1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000953HP:0007400Irregular hyperpigmentation1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000953HP:0007440Generalized hyperpigmentation1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000953HP:0007400Irregular hyperpigmentation1KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent196
HP:0000953HP:0007440Generalized hyperpigmentation1KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040281 - Very frequent196
HP:0000953HP:0007400Irregular hyperpigmentation1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0000953HP:0007440Generalized hyperpigmentation1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0000953HP:0007400Irregular hyperpigmentation1KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent110
HP:0000953HP:0007400Irregular hyperpigmentation1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0000953HP:0007400Irregular hyperpigmentation1KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0000953HP:0005586Hyperpigmentation in sun-exposed areas1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000953HP:0007440Generalized hyperpigmentation1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0000953HP:0007400Irregular hyperpigmentation1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0000953HP:0007440Generalized hyperpigmentation1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0000953HP:0007400Irregular hyperpigmentation1KRT5 CL E G H38526442OMIM:179850Dowling-Degos disease173
HP:0000953HP:0007400Irregular hyperpigmentation1KRT5 CL E G H38526442ORPHA:79145Dowling-Degos disease173
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare173
HP:0000953HP:0007440Generalized hyperpigmentation1KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythema173
HP:0000953HP:0007400Irregular hyperpigmentation1KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythema173
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent173
HP:0000953HP:0007400Irregular hyperpigmentation1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0000953HP:0007400Irregular hyperpigmentation1LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0000953HP:0007400Irregular hyperpigmentation1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0000953HP:0007400Irregular hyperpigmentation1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0000953HP:0007400Irregular hyperpigmentation1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000953HP:0007400Irregular hyperpigmentation1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000953HP:0007400Irregular hyperpigmentation1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1
HP:0000953HP:0007400Irregular hyperpigmentation1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000953HP:0007400Irregular hyperpigmentation1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0000953HP:0007400Irregular hyperpigmentation1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0000953HP:0007440Generalized hyperpigmentation1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000953HP:0007400Irregular hyperpigmentation1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000953HP:0007440Generalized hyperpigmentation1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000953HP:0007400Irregular hyperpigmentation1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0000953HP:0007400Irregular hyperpigmentation1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000953HP:0007400Irregular hyperpigmentation1MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0000953HP:0007400Irregular hyperpigmentation1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000953HP:0007400Irregular hyperpigmentation1MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040282 - Frequent4
HP:0000953HP:0007400Irregular hyperpigmentation1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0000953HP:0005586Hyperpigmentation in sun-exposed areas1MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0000953HP:0007440Generalized hyperpigmentation1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent94
HP:0000953HP:0007440Generalized hyperpigmentation1MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 194
HP:0000953HP:0007400Irregular hyperpigmentation1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000953HP:0007400Irregular hyperpigmentation1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0000953HP:0007400Irregular hyperpigmentation1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000953HP:0007400Irregular hyperpigmentation1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0000953HP:0007400Irregular hyperpigmentation1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0000953HP:0007440Generalized hyperpigmentation1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent26
HP:0000953HP:0007400Irregular hyperpigmentation1MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0000953HP:0007400Irregular hyperpigmentation1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0000953HP:0007400Irregular hyperpigmentation1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0000953HP:0007400Irregular hyperpigmentation1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0000953HP:0007440Generalized hyperpigmentation1MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040283 - Occasional35
HP:0000953HP:0007400Irregular hyperpigmentation1NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0000953HP:0007400Irregular hyperpigmentation1NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous disease13
HP:0000953HP:0007400Irregular hyperpigmentation1NCF2 CL E G H46887661ORPHA:379Chronic granulomatous disease67
HP:0000953HP:0007400Irregular hyperpigmentation1NCF4 CL E G H46897662ORPHA:379Chronic granulomatous disease37
HP:0000953HP:0007400Irregular hyperpigmentation1NDUFB11 CL E G H5453920372OMIM:300952Linear skin defects with multiple congenital anomalies 33
HP:0000953HP:0007400Irregular hyperpigmentation1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0000953HP:0007400Irregular hyperpigmentation1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0000953HP:0007400Irregular hyperpigmentation1NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0000953HP:0007400Irregular hyperpigmentation1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000953HP:0007400Irregular hyperpigmentation1NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0000953HP:0007400Irregular hyperpigmentation1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000953HP:0007400Irregular hyperpigmentation1NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0000953HP:0007400Irregular hyperpigmentation1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0000953HP:0007400Irregular hyperpigmentation1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0000953HP:0007400Irregular hyperpigmentation1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0000953HP:0007440Generalized hyperpigmentation1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent13
HP:0000953HP:0007400Irregular hyperpigmentation1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0000953HP:0007400Irregular hyperpigmentation1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0000953HP:0007400Irregular hyperpigmentation1NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosisHP:0040283 - Occasional144
HP:0000953HP:0007400Irregular hyperpigmentation1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0000953HP:0007400Irregular hyperpigmentation1NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent102
HP:0000953HP:0007400Irregular hyperpigmentation1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000953HP:0005586Hyperpigmentation in sun-exposed areas1OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0000953HP:0007400Irregular hyperpigmentation1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1349
HP:0000953HP:0007400Irregular hyperpigmentation1PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0000953HP:0007400Irregular hyperpigmentation1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0000953HP:0007440Generalized hyperpigmentation1PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent26
HP:0000953HP:0007440Generalized hyperpigmentation1PAX6 CL E G H50808620ORPHA:2253Foveal hypoplasia-presenile cataract syndromeHP:0040281 - Very frequent194
HP:0000953HP:0007400Irregular hyperpigmentation1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0000953HP:0007400Irregular hyperpigmentation1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000953HP:0009123Mixed hypo- and hyperpigmentation of the skin1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000953HP:0007400Irregular hyperpigmentation1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000953HP:0007400Irregular hyperpigmentation1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0000953HP:0007400Irregular hyperpigmentation1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0000953HP:0007400Irregular hyperpigmentation1PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional337
HP:0000953HP:0007400Irregular hyperpigmentation1PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosisHP:0040283 - Occasional28
HP:0000953HP:0007400Irregular hyperpigmentation1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0000953HP:0007400Irregular hyperpigmentation1PHIP CL E