palmoplantar keratoderma, nonepidermolytic, focal 1
Findings
No curated finding names palmoplantar keratoderma, nonepidermolytic, focal 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.
Definition from the Mondo Disease Ontology (MONDO:0013073), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
4 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.
- Follicular hyperkeratosisHPOHP:0007502
- 13 of 13 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 13 of 13 reported patients
- Congenital bullous ichthyosiform erythrodermaHPOHP:0007475
- 0 of 13 reported patients
- Perioral hyperkeratosisHPOHP:0033707
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.
- KRT16HGNC:6423
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: palmoplantar keratoderma, nonepidermolytic, focal 1
- Also called
- KRT16 nonepidermolytic palmoplantar keratodermanonepidermolytic palmoplantar keratoderma caused by mutation in KRT16palmoplantar keratoderma, nonepidermolytic, focalpalmoplantar keratoderma, nonepidermolytic, focal type 1