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DUH1
MCID: DYS090
MIFTS: 16
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Dyschromatosis Universalis Hereditaria 1 (DUH1)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria 1:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy/early childhood new skin lesions stop appearing before adolescence majority of cases in japan HPO:32
dyschromatosis universalis hereditaria 1:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications: |
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OMIM
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57
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).
(127500)
MalaCards based summary : Dyschromatosis Universalis Hereditaria 1, also known as dyschromatosis universalis hereditaria, type 1, is related to dyschromatosis universalis hereditaria and dyschromatosis universalis hereditaria 2. An important gene associated with Dyschromatosis Universalis Hereditaria 1 is DUH1 (Dyschromatosis Universalis Hereditaria). Affiliated tissues include skin, and related phenotype is hyperpigmented/hypopigmented macules. |
Diseases in the Dyschromatosis Universalis Hereditaria family:
Diseases related to Dyschromatosis Universalis Hereditaria 1 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:127500Human phenotypes related to Dyschromatosis Universalis Hereditaria 1:32
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MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria 1:41
Skin
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Search
GEO
for disease gene expression data for Dyschromatosis Universalis Hereditaria 1.
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