porokeratosis 9, multiple types
Findings
No curated finding names porokeratosis 9, multiple types yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.
Definition from the Mondo Disease Ontology (MONDO:0014713), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
1 feature
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
- 4 of 4 reported patients
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.
- FDPSHGNC:3631
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: porokeratosis 9, multiple types
- Also called
- FDPS porokeratosis (disease)POROK9porokeratosis (disease) caused by mutation in FDPSporokeratosis 9, multiple types; POROK9