Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis: genes and variants
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis is linked to 1 analyzed protein (DSP). 1 DNA variants are known to cause it; 54 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 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
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.
1 disease-causing and 54 uncertain variants in DSP are linked to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis.
Known disease-causing variants in Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DSP Q616P | 616 | Spectrin 4 | Disease-causing |
Same protein, different disease
- Arrhythmogenic right ventricular dysplasia is also caused by DSP variants; they fall mostly in different places as the Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis variants (6 disease-causing).
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma is also caused by DSP variants; they fall mostly in different places as the Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis variants (6 disease-causing).
Diseases related to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
- 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 cardiomyopathy with wooly hair and keratoderma, 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
Frequently asked questions
Which genes are linked to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis?
In CATVariant, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis is linked to 1 analyzed protein: DSP (Desmoplakin).
How many genetic variants are linked to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis?
55 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 54 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 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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