Non-epidermolytic palmoplantar keratoderma: genes and variants
Explore variant evidence for Non-epidermolytic palmoplantar keratoderma across 3 analyzed proteins (AQP5, KRT1, KRT16). Linked ClinVar records include 4 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Non-epidermolytic palmoplantar keratoderma
AQP5: Aquaporin-5
It supports fluid secretion in salivary, lacrimal, airway, and other exocrine tissues by facilitating transcellular water movement. Dominant pathogenic variants can cause palmoplantar keratoderma, reflecting an additional role in epidermal homeostasis.
4 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in AQP5 have source records linked to Non-epidermolytic palmoplantar keratoderma. Association strength is not clinical gene validity.
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.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in KRT1 have source records linked to Non-epidermolytic palmoplantar keratoderma. Association strength is not clinical gene validity.
KRT16: Keratin, type I cytoskeletal 16
It is induced in mechanically stressed and repairing epithelia and helps reinforce keratinocyte intermediate filaments. Dominant pathogenic variants can cause pachyonychia congenita and focal palmoplantar keratoderma with painful hyperkeratosis.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in KRT16 have source records linked to Non-epidermolytic palmoplantar keratoderma. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Non-epidermolytic palmoplantar keratoderma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AQP5 G176R | 176 | Transmembrane | Pathogenic / likely pathogenic (★) |
| AQP5 I45S | 45 | Transmembrane | Pathogenic / likely pathogenic |
| AQP5 N123D | 123 | Extracellular | Pathogenic / likely pathogenic |
| AQP5 I177F | 177 | Transmembrane | Pathogenic / likely pathogenic |
Diseases related to Non-epidermolytic palmoplantar keratoderma
- Pachyonychia congenita, also linked to KRT16
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT1
- Epidermolytic hyperkeratosis 2A, autosomal dominant, also linked to KRT1
- Annular epidermolytic ichthyosis, also linked to KRT1
- Ichthyosis and erythrokeratoderma, also linked to KRT16
- Palmoplantar keratoderma, nonepidermolytic, focal 1, also linked to KRT16
- Epidermolytic ichthyosis, also linked to KRT1
- Ichthyosis, annular epidermolytic 1, also linked to KRT1
- Keratosis palmoplantaris striata 2, also linked to KRT1
Frequently asked questions
Which genes have records linked to Non-epidermolytic palmoplantar keratoderma?
This view contains 3 analyzed proteins: AQP5, KRT1, KRT16. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 4 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 15 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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