pachyonychia congenita 2
MONDO:0008174Mondo
Findings
No curated finding names pachyonychia congenita 2 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 KRT17 gene.
Definition from the Mondo Disease Ontology (MONDO:0008174), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Epidermoid cystHPOHP:0200040
- 4 of 4 reported patients
- Nail dystrophyHPOHP:0008404
- 4 of 4 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 4 of 4 reported patients
- Natal toothHPOHP:0000695
- 1 of 4 reported patients · Congenital onset
- Oral leukoplakiaHPOHP:0002745
- 0 of 4 reported patients
- Angular cheilitisHPOHP:0030318
- Hoarse voiceHPOHP:0001609
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.
- KRT17HGNC:6427
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: pachyonychia congenita 2
- Also called
- KRT17 pachyonychia congenitapachyonychia congenita caused by mutation in KRT17pachyonychia congenita type 2