| H00644 | |
| H番号 | H00644 |
| 名称 | 外胚葉異形成・皮膚脆弱症候群 |
| 概要 | Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This condition is caused by mutations in PKP1, a desmosomal plaque-associated protein. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PKP1 [HSA:5317] [KO:K10387] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC30 ICD-10: Q81.0 MeSH: C536183 OMIM: 604536 |
| 文献 | PMID:19504607 著者 Priolo M タイトル Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. 雑誌 Am J Med Genet A 149A:2003-13 (2009) DOI:10.1002/ajmg.a.32804 PMID:9326952 著者 McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA タイトル Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. 雑誌 Nat Genet 17:240-4 (1997) DOI:10.1038/ng1097-240 PMID:16781314 著者 Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA タイトル Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. 雑誌 J Am Acad Dermatol 55:157-61 (2006) DOI:10.1016/j.jaad.2005.10.002 |