KEGG   DISEASE: Naxos diseaseHelp
Entry
H00669                      Disease                                

Name
Naxos disease
  Subgroup
Carvajal syndrome [DS:H02094]
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
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00669  Naxos disease
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H00669  Naxos disease
BRITE hierarchy
Pathway
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Gene
JUP [HSA:3728] [KO:K10056]
Other DBs
ICD-11: BC43.6
ICD-10: Q87.8
MeSH: C538346
OMIM: 601214
Reference
  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
Reference
  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
Reference
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

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