palmoplantar keratoderma, nonepidermolytic, focal or diffuse
MONDO:0014327Mondo
Findings
No curated finding names palmoplantar keratoderma, nonepidermolytic, focal or diffuse yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Oral leukoplakiaHPOHP:0002745
- 1 of 17 reported patients
- Plantar hyperkeratosisHPOHP:0007556
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KRT6CHGNC:20406
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- Also called
- autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering