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Browse result for Dyschromatosis universalis hereditaria

※ introduction

    Dyschromatosis universalis hereditaria is a type of pigmentation disorder of the skin. It is characterized by dark and light spots formed like lace in a generalized distribution. Both autosomal dominant and recessive inheritance have been reported with the disorder. It has been associated with mutations in genes SASH1 and ABCB6. It is a rare genodermatosis.

Reference
Wiki: Dyschromatosis universalis hereditaria



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03302O9488523328
SASH1
SAM and SH3 domain-containing protein 1
Homo sapiens
PTMD13195Q9NP5810058
ABCB6
ATP-binding cassette sub-family B member 6
Homo sapiens