KEGG DISEASE: Naxos disease

DISEASE: Naxos disease

Entry

H00669                      Disease

Name

Naxos disease

Subgroup

Carvajal syndrome [DS:H02094]

Description

Naxos disease (NXD) 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 in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H00669  Naxos disease
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00669  Naxos disease

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

JUP [HSA:3728] [KO:K10056]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

Reference

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

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

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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