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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
Reference
Wiki: Dyschromatosis universalis hereditaria
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03302 | O94885 | 23328 | SASH1 | SAM and SH3 domain-containing protein 1 | Homo sapiens |
| PTMD13195 | Q9NP58 | 10058 | ABCB6 | ATP-binding cassette sub-family B member 6 | Homo sapiens |
