Arrhythmogenic cardiomyopathy with wooly hair and keratoderma: genes and variants
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma is linked to 1 analyzed protein (DSP). 6 DNA variants are known to cause it; 1,833 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DSP: Desmoplakin
It anchors intermediate filaments to desmosomes, allowing mechanically stressed tissues such as myocardium and epidermis to maintain strong cell-cell adhesion. Pathogenic variants can cause arrhythmogenic or dilated cardiomyopathy and a range of cardiocutaneous disorders.
6 disease-causing and 1,833 uncertain variants in DSP are linked to Arrhythmogenic cardiomyopathy with wooly hair and keratoderma.
Where Arrhythmogenic cardiomyopathy with wooly hair and keratoderma variants cluster
- DSP Spectrin 4 (positions 546–627): 3 of 6 disease-causing changes, 17.5× more than its size predicts.
Known disease-causing variants in Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DSP S299R | 299 | Spectrin 2 | Disease-causing (★★) |
| DSP R451G | 451 | Interaction with JUP and PKP2 | Disease-causing (★★) |
| DSP S597P | 597 | Spectrin 4 | Disease-causing (★) |
| DSP H618P | 618 | Spectrin 4 | Disease-causing (★) |
| DSP L622P | 622 | Spectrin 4 | Disease-causing (★) |
| DSP T638I | 638 | Interaction with MAPRE1 | Disease-causing (★) |
Diseases related to Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Hypertrophic cardiomyopathy, also linked to DSP
- Dilated cardiomyopathy, also linked to DSP
- Cardiac arrhythmia, also linked to DSP
- Arrhythmogenic right ventricular dysplasia, also linked to DSP
- Idiopathic pulmonary fibrosis, also linked to DSP
- Arrhythmogenic right ventricular cardiomyopathy, also linked to DSP
- Progressive familial heart block, also linked to DSP
- Familial isolated arrhythmogenic right ventricular dysplasia, also linked to DSP
- Keratosis palmoplantaris striata 2, also linked to DSP
- Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, also linked to DSP
Frequently asked questions
Which genes are linked to Arrhythmogenic cardiomyopathy with wooly hair and keratoderma?
In CATVariant, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma is linked to 1 analyzed protein: DSP (Desmoplakin).
How many genetic variants are linked to Arrhythmogenic cardiomyopathy with wooly hair and keratoderma?
1,968 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,833 are of uncertain significance or have conflicting reports.
Which uncertain variants in Arrhythmogenic cardiomyopathy with wooly hair and keratoderma look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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