| H00880 | |
| H number | H00880 |
| Name | Dyschromatosis symmetrica hereditaria |
| Description | Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented macules on dorsa of hands and feet. It is caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1). |
| Category | Skin disease |
| Network | - |
| Gene | ADAR [HSA:103] [KO:K12968] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC23.Y ICD-10: L81.8 MeSH: C535729 OMIM: 127400 |
| Reference | PMID:16882194 AUTHORS Liu Y, Xiao SX, Peng ZH, Lei XB, Wang JM, Li Y, Li XL TITLE Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. JOURNAL Br J Dermatol 155:473-6 (2006) DOI:10.1111/j.1365-2133.2006.07223.x |