Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skin pigmentation (HP:0001000)help
Parent Node:
expand
Hypopigmentation of the skin (HP:0001010)help
..Starting node
..expand
Generalized hypopigmentation (HP:0007513)help
Term ID: 7513
Name: Generalized hypopigmentation
Synonym: Fair skin; Generalised hypopigmentation; Pale pigmentation
Definition:
Comments:
Reference: HP:0007513
Genes and Diseases:
 
       Child Nodes:
........expandAlbinism (HP:0001022) help

 Sister Nodes: 
..expandAbsent skin pigmentation (HP:0200098) help
..expandConfetti hypopigmentation pattern of lower leg skin (HP:0007554) help
..expandHypomelanotic macule (HP:0009719) help
..expandHypopigmented skin patches (HP:0001053) help
..expandHypopigmented streaks (HP:0007535) help
..expandMixed hypo- and hyperpigmentation of the skin (HP:0009123) help
..expandPartial albinism (HP:0007443) help
..expandPiebaldism (HP:0007544) 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:0007513HP:0007513Generalized hypopigmentation0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0007513HP:0007513Generalized hypopigmentation0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0007513HP:0007513Generalized hypopigmentation0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0007513HP:0007513Generalized hypopigmentation0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0007513HP:0007513Generalized hypopigmentation0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0007513HP:0007513Generalized hypopigmentation0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0007513HP:0007513Generalized hypopigmentation0EDNRB CL E G H19103180OMIM:600501Abcd syndrome55
HP:0007513HP:0007513Generalized hypopigmentation0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0007513HP:0007513Generalized hypopigmentation0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome.38
HP:0007513HP:0007513Generalized hypopigmentation0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0007513HP:0007513Generalized hypopigmentation0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0007513HP:0007513Generalized hypopigmentation0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0007513HP:0007513Generalized hypopigmentation0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0007513HP:0007513Generalized hypopigmentation0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0007513HP:0007513Generalized hypopigmentation0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome.
HP:0007513HP:0007513Generalized hypopigmentation0KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythemaHP:0040282 - Frequent173
HP:0007513HP:0007513Generalized hypopigmentation0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040281 - Very frequent68
HP:0007513HP:0007513Generalized hypopigmentation0LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V13
HP:0007513HP:0007513Generalized hypopigmentation0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0007513HP:0007513Generalized hypopigmentation0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome.63
HP:0007513HP:0007513Generalized hypopigmentation0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0007513HP:0007513Generalized hypopigmentation0MITF CL E G H42867105OMIM:103500Tietz syndrome.91
HP:0007513HP:0007513Generalized hypopigmentation0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0007513HP:0007513Generalized hypopigmentation0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome.5
HP:0007513HP:0007513Generalized hypopigmentation0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome.
HP:0007513HP:0007513Generalized hypopigmentation0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome.1
HP:0007513HP:0007513Generalized hypopigmentation0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0007513HP:0007513Generalized hypopigmentation0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0007513HP:0007513Generalized hypopigmentation0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome.
HP:0007513HP:0007513Generalized hypopigmentation0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome.
HP:0007513HP:0007513Generalized hypopigmentation0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0007513HP:0007513Generalized hypopigmentation0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0007513HP:0007513Generalized hypopigmentation0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0007513HP:0007513Generalized hypopigmentation0SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI.12
HP:0007513HP:0007513Generalized hypopigmentation0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0007513HP:0007513Generalized hypopigmentation0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0007513HP:0007513Generalized hypopigmentation0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome.
HP:0007513HP:0007513Generalized hypopigmentation0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome.
HP:0007513HP:0007513Generalized hypopigmentation0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0007513HP:0007513Generalized hypopigmentation0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0007513HP:0007513Generalized hypopigmentation0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0007513HP:0007513Generalized hypopigmentation0TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB146
HP:0007513HP:0007513Generalized hypopigmentation0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0007513HP:0007513Generalized hypopigmentation0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0007513HP:0007513Generalized hypopigmentation0TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III62
HP:0007513HP:0007513Generalized hypopigmentation0WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V51
HP:0007513HP:0007513Generalized hypopigmentation0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0007513HP:0001022Albinism1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0007513HP:0001022Albinism1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0007513HP:0001022Albinism1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0007513HP:0001022Albinism1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0007513HP:0001022Albinism1CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0007513HP:0001022Albinism1DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 7.46
HP:0007513HP:0001022Albinism1EDNRB CL E G H19103180OMIM:600501Abcd syndrome.55
HP:0007513HP:0001022Albinism1EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0007513HP:0001022Albinism1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0007513HP:0001022Albinism1HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0007513HP:0001022Albinism1HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0007513HP:0001022Albinism1HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0007513HP:0001022Albinism1HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0007513HP:0001022Albinism1LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V.13
HP:0007513HP:0001022Albinism1MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0007513HP:0001022Albinism1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.HP:0003577 - Congenital onset91
HP:0007513HP:0001022Albinism1OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0007513HP:0001022Albinism1SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0007513HP:0001022Albinism1SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0007513HP:0001022Albinism1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0007513HP:0001022Albinism1TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0007513HP:0001022Albinism1TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0007513HP:0001022Albinism1TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0007513HP:0001022Albinism1TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III.62
HP:0007513HP:0001022Albinism1WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V.51


Genes (40) :AP3B1 AP3D1 BLOC1S3 BLOC1S5 CACNA1F DTNBP1 EDNRB EPG5 HERC2 HPS1 HPS3 HPS4 HPS5 HPS6 IPW KRT5 LEMD3 LRMDA LYST MAGEL2 MC1R MITF MKRN3 MKRN3-AS1 NPAP1 OCA2 OCRL PWAR1 PWRN1 SKIC2 SKIC3 SLC24A5 SLC45A2 SNORD115-1 SNORD116-1 TP63 TYR TYRP1 WDR45 ZPR1

Diseases (35) :OMIM:608233 OMIM:617050 OMIM:614077 OMIM:619172 OMIM:300600 OMIM:614076 OMIM:600501 OMIM:242840 OMIM:176270 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 ORPHA:158681 ORPHA:1306 OMIM:615179 ORPHA:352723 OMIM:203200 OMIM:103500 OMIM:193510 ORPHA:534 ORPHA:84064 OMIM:222470 OMIM:113750 OMIM:606574 ORPHA:79435 OMIM:604292 ORPHA:1896 OMIM:203100 OMIM:606952 ORPHA:79431 ORPHA:79434 OMIM:203290 OMIM:619321
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.