pachyonychia congenita 3
MONDO:0014324Mondo
Findings
No curated finding names pachyonychia congenita 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.
Definition from the Mondo Disease Ontology (MONDO:0014324), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Nail dystrophyHPOHP:0008404
- 3 of 3 reported patients
- Onychogryphosis of toenailsHPOHP:0008401
- 3 of 3 reported patients
- Oral leukoplakiaHPOHP:0002745
- 7 of 10 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 6 of 10 reported patients
- Follicular hyperkeratosisHPOHP:0007502
- 1 of 7 reported patients
- Palmar hyperkeratosisHPOHP:0010765
- 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.
- KRT6AHGNC:6443
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: pachyonychia congenita 3
- Also called
- KRT6A pachyonychia congenitapachyonychia congenita caused by mutation in KRT6Apachyonychia congenita type 3