Details of Disease

General Information of Disease (ID: DISL5ZUP)

Disease Name Naxos disease
Synonyms
palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair; woolly hair palmoplantar keratoderma cardiac abnormalities; keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair; Mal De Naxos; keratosis palmoplantaris with arrhythmogenic cardiomyopathy; cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities; palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair; wooly hair palmoplantar keratoderma cardiac abnormalities; wooly hair, palmoplantar keratoderma, and Cardiac abnormalities; woolly hair, palmoplantar keratoderma, and Cardiac abnormalities; keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair; NAXOS disease; keratosis palmoplantaris with arrythmogenic cardiomyopathy; keratoderma with woolly hair type I; KWWH type I; keratoderma with wooly hair type I; NXD; Naxos disease; palmoplantar keratoderma with arrythmogenic cardiomyopathy; palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Definition A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DIS3V2BE: Arrhythmogenic right ventricular cardiomyopathy
DIS8XBKN: Cardioectodermal syndrome
DISBA1TN: Familial cardiomyopathy
DISL5ZUP: Naxos disease
Disease Identifiers
MONDO ID
MONDO_0011017
MESH ID
C538346
UMLS CUI
C1832600
OMIM ID
601214
MedGen ID
321991
Orphanet ID
34217
SNOMED CT ID
715535009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
JUP TTREN0G Strong Autosomal recessive [1]
JUP TTREN0G Strong Biomarker [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DSC2 OTODVH8K Strong Genetic Variation [3]
DSP OTB2MOP8 Strong Biomarker [4]
JUP OTUH7VMO Strong Autosomal recessive [1]
PKP2 OTJOVF68 Strong Genetic Variation [5]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
3 Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.Pediatr Dermatol. 2015 Sep-Oct;32(5):641-6. doi: 10.1111/pde.12541. Epub 2015 Mar 30.
4 Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.Orphanet J Rare Dis. 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4.
5 Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.Eur Heart J. 2006 Sep;27(18):2208-16. doi: 10.1093/eurheartj/ehl184. Epub 2006 Aug 7.