DUH
MCID: DYS023
MIFTS: 31
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Dyschromatosis Universalis Hereditaria (DUH)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Dyschromatosis Universalis Hereditaria:
Characteristics:Orphanet epidemiological data:58
dyschromatosis universalis hereditaria
Inheritance: Autosomal dominant,Autosomal recessive; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Skin diseases Neuronal diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 241 Definition A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported. Visit the Orphanet disease page for more resources.
MalaCards based summary : Dyschromatosis Universalis Hereditaria, also known as duh, is related to dyschromatosis universalis hereditaria 1 and dyschromatosis symmetrica hereditaria. An important gene associated with Dyschromatosis Universalis Hereditaria is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), and among its related pathways/superpathways is Immune response_IL-6 signaling pathway. Affiliated tissues include skin, and related phenotypes are hypermelanotic macule and spotty hypopigmentation Disease Ontology : 12 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. KEGG : 36 Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least two causative genes, ABCB6 and SASH1, have been reported. Wikipedia : 74 Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and... more... |
Human phenotypes related to Dyschromatosis Universalis Hereditaria:58 31 (show all 9)
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Cochrane evidence based reviews: dyschromatosis universalis hereditaria |
Genetic tests related to Dyschromatosis Universalis Hereditaria:
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MalaCards organs/tissues related to Dyschromatosis Universalis Hereditaria:40
Skin
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Articles related to Dyschromatosis Universalis Hereditaria:(show top 50) (show all 60)
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for disease gene expression data for Dyschromatosis Universalis Hereditaria.
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