| H00669 | |
| H番号 | H00669 |
| 名称 | Naxos 病 |
| 概要 | Naxos disease is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy that appears by adolescence. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | JUP [HSA:3728] [KO:K10056] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: BC43.6 ICD-10: Q87.8 MeSH: C538346 OMIM: 601214 |
| 文献 | PMID:15210133 著者 Protonotarios N, Tsatsopoulou A タイトル Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. 雑誌 Cardiovasc Pathol 13:185-94 (2004) DOI:10.1016/j.carpath.2004.03.609 PMID:10902626 著者 McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ タイトル Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). 雑誌 Lancet 355:2119-24 (2000) DOI:10.1016/S0140-6736(00)02379-5 PMID:9738775 著者 Carvajal-Huerta L タイトル Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. 雑誌 J Am Acad Dermatol 39:418-21 (1998) DOI:10.1016/S0190-9622(98)70317-2 |