Keratosis palmoplantaris striata 2: genes and variants
Keratosis palmoplantaris striata 2 is linked to 2 analyzed proteins (DSP and KRT1). 2 DNA variants are known to cause it; 33 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: keratosis palmoplantaris striata 3
Genes linked to Keratosis palmoplantaris striata 2
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 33 uncertain variants in DSP are linked to Keratosis palmoplantaris striata 2.
KRT1: Keratin, type II cytoskeletal 1
It pairs with keratin 10 to provide mechanical resilience to suprabasal epidermal cells and help maintain the skin barrier. Dominant pathogenic variants cause epidermolytic ichthyosis and related palmoplantar keratoderma phenotypes.
1 disease-causing and 0 uncertain variants in KRT1 are linked to Keratosis palmoplantaris striata 2.
Known disease-causing variants in Keratosis palmoplantaris striata 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT1 L485F | 485 | IF rod | Disease-causing (★★) |
| DSP S594R | 594 | 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 Keratosis palmoplantaris striata 2 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 Keratosis palmoplantaris striata 2 variants (6 disease-causing).
- Annular epidermolytic ichthyosis is also caused by KRT1 variants; they fall mostly in different places as the Keratosis palmoplantaris striata 2 variants (5 disease-causing).
- Epidermolytic ichthyosis is also caused by KRT1 variants; they fall mostly in different places as the Keratosis palmoplantaris striata 2 variants (5 disease-causing).
Diseases related to Keratosis palmoplantaris striata 2
- 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
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT1
- Epidermolytic hyperkeratosis 2A, autosomal dominant, also linked to KRT1
- Annular epidermolytic ichthyosis, also linked to KRT1
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, also linked to DSP
- Arrhythmogenic right ventricular cardiomyopathy, also linked to DSP
- Epidermolytic ichthyosis, also linked to KRT1
- Progressive familial heart block, also linked to DSP
Frequently asked questions
Which genes are linked to Keratosis palmoplantaris striata 2?
In CATVariant, Keratosis palmoplantaris striata 2 is linked to 2 analyzed proteins: DSP (Desmoplakin) and KRT1 (Keratin, type II cytoskeletal 1).
How many genetic variants are linked to Keratosis palmoplantaris striata 2?
35 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 33 are of uncertain significance or have conflicting reports.
Which uncertain variants in Keratosis palmoplantaris striata 2 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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