| 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 |