Dyschromatosis universalis hereditaria 3

Preferred Label : Dyschromatosis universalis hereditaria 3;

Symbol : DUH3;

CISMeF acronym : DUH3;

Type : Phenotype, molecular basis known;

Description : Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). For a discussion of genetic heterogeneity of DUH, see DUH1 (127500).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 6 gene (ABCB6, 605452.0008);

Prefixed ID : #615402;

Details

Origin ID

615402;

UMLS CUI

C3809394;

Automatic exact mappings (from CISMeF team)
- ABCB6 wt Allele [NCIt concept]
DO Cross reference
- dyschromatosis universalis hereditaria [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily b, member 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypermelanotic macule [HPO term]
- Hypopigmented macule [HPO term]
ORDO concept(s)
- Dyschromatosis universalis hereditaria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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