pachyonychia congenita 1
MONDO:0008173Mondo
Findings
No curated finding names pachyonychia congenita 1 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 KRT16 gene.
Definition from the Mondo Disease Ontology (MONDO:0008173), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient
- Oral leukoplakiaHPOHP:0002745
- 1 of 1 reported patient
- Palmoplantar hyperkeratosisHPOHP:0000972
- 1 of 1 reported patient
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 · Ambry Genetics · Autosomal dominant · 2018
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: pachyonychia congenita 1
- Also called
- KRT16 pachyonychia congenitapachyonychia congenita caused by mutation in KRT16pachyonychia congenita type 1