Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAlopecia (D000505)
Parent Node:
expandHyperpigmentation (D017495)
Parent Node:
expandNail Diseases (D009260)
Parent Node:
expandSkin Neoplasms (D012878)
..Starting node
..expandDermatopathia pigmentosa reticularis (C535374)

       Child Nodes:



 Sister Nodes: 
..expandAbdominal chemodectomas with cutaneous angiolipomas (C535552)
..expandAcanthoma (D049309)
..expandBazex-Dupre-Christol syndrome (C537663)
..expandBecker Nevus Syndrome (C565735)
..expandBlue rubber bleb nevus syndrome (C536240)
..expandCalcifying Epithelial Odontogenic Tumor (C537961)
..expandCardiomyopathy hypogonadism collagenoma syndrome (C535582)
..expandCollagenoma, Familial Cutaneous (C562925)
..expandDavenport Donlan syndrome (C535988)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandFamilial cylindromatosis (C536611)
..expandFamilial multiple trichodiscomas (C536847)
..expandFanconi like syndrome (C536855)
..expandGiant pigmented hairy nevus (C536819)
..expandHamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..expandHistiocytosis, Progressive Mucinous (C564186)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..expandNevus, Epidermal (C562736)
..expandPALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..expandPalmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..expandPapillomatosis, Familial Cutaneous (C566832)
..expandPhacomatosis pigmentokeratotica (C537893)
..expandReactive angioendotheliomatosis (C535293)
..expandReed's syndrome (C535516)
..expandRombo syndrome (C535870)
..expandSchwannomatosis (C536641)
..expandSclerotylosis (C537526)
..expandSebaceous Gland Neoplasms (D012626) Child2
..expandSweat Gland Neoplasms (D013544)
..expandTrichoepithelioma, Multiple Familial, 2 (C567418)
..expandTrichoepitheliomas, Multiple Desmoplastic (C566034)
..expandTrichofolliculoma (C536553)
..expandTufted angioma (C536924)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3242
Name:Dermatopathia pigmentosa reticularis
Definition:
Alternative IDs:OMIM:125595
ParentIDs:MESH:D000505|MESH:D009260|MESH:D012878|MESH:D017495
TreeNumbers:C04.588.805/C535374 |C17.800.329.937.122/C535374 |C17.800.529/C535374 |C17.800.621.430/C535374 |C17.800.882/C535374 |C23.300.035/C535374
Synonyms:DPR
Slim Mappings:Cancer|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C535374
MeSH: C535374
OMIM: 125595;

Genes: KRT14;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000502Abnormal conjunctiva morphology
3 HP:0007455Adermatoglyphia
4 HP:0002293Alopecia of scalp
5 HP:0007550Hypohidrosis or hyperhidrosis
6 HP:0008404Nail dystrophy
7 HP:0000972Palmoplantar hyperkeratosis
8 HP:0007588Reticular hyperpigmentation
9 HP:0012788Reticulate pigmentation of oral mucosa
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000526.4(KRT14):c.54C>A (p.Cys18Ter)3861KRT14Pathogenic60831116RCV000015731; RCV000056744; NMedGen:C0406778,OMIM:125595,ORPHA:86920,SNOMED CT:239088003; MedGen:CN221809173974303339743033NM_000526.4:c.54C>ANP_000517.2:p.Cys18TerNC_000017.10:g.39743033G>TOMIM Allelic Variant:148066.0016C0406778 125595 Dermatopathia pigmentosa reticularis; CN221809 not provided