Dyschromatosis universalis hereditaria 1

Preferred Label : Dyschromatosis universalis hereditaria 1;

Symbol : DUH1;

CISMeF acronym : DUH1;

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). - Genetic Heterogeneity of Dyschromatosis Universalis Hereditaria Dyschromatosis universalis hereditaria-2 (DUH2; 612715) maps to chromosome 12q21-q23. DUH3 (615402) is caused by mutation in the ABCB6 gene (605452) on chromosome 2q35.;

Inheritance : Autosomal dominant;

Prefixed ID : #127500;

Details

Origin ID

127500;

UMLS CUI

C2675711;

Broader ORDO disease(s)
- Dyschromatosis universalis hereditaria [ORDO Disease]
Currated CISMeF NLP mapping
- dyschromatosis universalis hereditaria 1 [MeSH concept]
- dyschromatosis universalis hereditaria 1 [MeSH Supplementary Concept]
DO Cross reference
- dyschromatosis universalis hereditaria [DO Concept]
Genes related to phenotype
- Sam- and sh3 domain-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperpigmented/hypopigmented macules [HPO term]
- Infantile onset [HPO term]
ORDO concept(s)
- Dyschromatosis universalis hereditaria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dyschromatosis universalis hereditaria 1 [MeSH Supplementary Concept]
- dyschromatosis universalis hereditaria 1 [MeSH concept]

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