| H00669 | |
| H number | H00669 |
| Name | Naxos disease |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | JUP [HSA:3728] [KO:K10056] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: BC43.6 ICD-10: Q87.8 MeSH: C538346 OMIM: 601214 |
| Reference | PMID:15210133 AUTHORS Protonotarios N, Tsatsopoulou A TITLE Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. JOURNAL Cardiovasc Pathol 13:185-94 (2004) DOI:10.1016/j.carpath.2004.03.609 PMID:10902626 AUTHORS McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ TITLE Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). JOURNAL Lancet 355:2119-24 (2000) DOI:10.1016/S0140-6736(00)02379-5 PMID:9738775 AUTHORS Carvajal-Huerta L TITLE Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. JOURNAL J Am Acad Dermatol 39:418-21 (1998) DOI:10.1016/S0190-9622(98)70317-2 |