Autosomal dominant palmoplantar keratoderma and congenital alopecia: genes and variants
Autosomal dominant palmoplantar keratoderma and congenital alopecia is linked to 1 analyzed protein (GJA1). 1 DNA variants are known to cause it; 3 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 Autosomal dominant palmoplantar keratoderma and congenital alopecia
GJA1: Gap junction alpha-1 protein
It forms connexin 43 gap junctions that permit direct electrical and metabolic communication between neighboring cells in heart, bone, skin, and many other tissues. Pathogenic variants cause oculodentodigital dysplasia and related syndromes with craniofacial, dental, limb, and sometimes cardiac abnormalities.
1 disease-causing and 3 uncertain variants in GJA1 are linked to Autosomal dominant palmoplantar keratoderma and congenital alopecia.
Known disease-causing variants in Autosomal dominant palmoplantar keratoderma and congenital alopecia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GJA1 G8V | 8 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Oculodentodigital dysplasia is also caused by GJA1 variants; they fall mostly in different places as the Autosomal dominant palmoplantar keratoderma and congenital alopecia variants (37 disease-causing).
Diseases related to Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Oculodentodigital dysplasia, also linked to GJA1
- Hypoplastic left heart syndrome, also linked to GJA1
- Familial atrioventricular septal defect, also linked to GJA1
- Syndactyly type 3, also linked to GJA1
Frequently asked questions
Which genes are linked to Autosomal dominant palmoplantar keratoderma and congenital alopecia?
In CATVariant, Autosomal dominant palmoplantar keratoderma and congenital alopecia is linked to 1 analyzed protein: GJA1 (Gap junction alpha-1 protein).
How many genetic variants are linked to Autosomal dominant palmoplantar keratoderma and congenital alopecia?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal dominant palmoplantar keratoderma and congenital alopecia 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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