Naxos Disease

Description

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

Clinical Features

Top most frequent phenotypes and symptoms related to Naxos Disease

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia
  • Abnormal heart morphology
  • Alopecia
  • Hyperhidrosis
  • Respiratory failure
  • Hyperkeratosis

And another 48 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Naxos Disease Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy, palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy, kwwh type i, keratoderma with woolly hair type i, mal de naxos, palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Naxos Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Arrhythmogenic right ventricular cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2
Specificity
15 %
Genes
100 %
Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2
Specificity
15 %
Genes
100 %
Pan-cardiomyopathy panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, ACTC1, CASQ2, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, CRYAB , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, TGFB3, TTN, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2
Specificity
9 %
Genes
100 %
Arrhymogenic Right Ventricular Cardiomyopathy Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RYR2, TGFB3, TTN, LDB3, DES, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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