porokeratosis 1, Mibelli type
MONDO:0008290Mondo
Findings
No curated finding names porokeratosis 1, Mibelli type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
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.
- PorokeratosisHPOHP:0200044
- 9 of 9 reported patients
- ParakeratosisHPOHP:0001036
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.
- PMVKHGNC:9141
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: porokeratosis 1, Mibelli type
- Also called
- POROK1