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DUH1
MCID: DYS090
MIFTS: 19
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Dyschromatosis Universalis Hereditaria 1 (DUH1)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria 1:
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
new skin lesions stop appearing before adolescence majority of cases in japan onset in infancy/early childhood HPO:33
dyschromatosis universalis hereditaria 1:
Onset and clinical course infantile onset Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Neuronal diseases |
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OMIM
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58
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).
The autosomal dominant SASH1-associated DUH1 phenotype is characterized by generalized lentigines accompanied by mottled hyper- and hypopigmentation (Zhang et al., 2017).
DUH is distinct from dyschromatosis symmetrica hereditaria (DSH; 127400), which also occurs particularly in Japanese and Korean individuals, but shows a characteristic mixture of hyper- and hypopigmented macules limited largely to the dorsal aspects of the hands and feet (Suenaga, 1952). Gao et al. (2005) noted that lesions associated with DUH appear within the first year of life predominantly on the trunk, whereas the age of onset of DSH is approximately 6 years and lesions appear predominantly on the extremities.
(127500)
MalaCards based summary : Dyschromatosis Universalis Hereditaria 1, also known as dyschromatosis universalis hereditaria, type 1, is related to dyschromatosis universalis hereditaria and dyschromatosis symmetrica hereditaria. An important gene associated with Dyschromatosis Universalis Hereditaria 1 is SASH1 (SAM And SH3 Domain Containing 1). 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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Human phenotypes related to Dyschromatosis Universalis Hereditaria 1:33
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MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria 1:42
Skin
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Articles related to Dyschromatosis Universalis Hereditaria 1:
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Genes related to Dyschromatosis Universalis Hereditaria 1 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Dyschromatosis Universalis Hereditaria 1:6 (show all 18)
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Search
GEO
for disease gene expression data for Dyschromatosis Universalis Hereditaria 1.
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