H00880 | |
H番号 | H00880 |
名称 | 遺伝性対側性色素異常症 |
概要 | 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). |
カテゴリ | 皮膚疾患 |
ネットワーク | - |
病因遺伝子 | ADAR [HSA:103] [KO:K12968] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: EC23.Y ICD-10: L81.8 MeSH: C535729 OMIM: 127400 |
文献 | PMID:16882194 著者 Liu Y, Xiao SX, Peng ZH, Lei XB, Wang JM, Li Y, Li XL タイトル Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. 雑誌 Br J Dermatol 155:473-6 (2006) DOI:10.1111/j.1365-2133.2006.07223.x |