acne inversa, familial, 3
Findings
No curated finding names acne inversa, familial, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013398), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Acne inversaHPOHP:0040154
- Recurrent cutaneous abscess formationHPOHP:0100838
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.
- PSEN1HGNC:9508
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: acne inversa, familial, 3
- Also called
- acne inversa, familial, type 3familial acne inversa caused by mutation in PSEN1PSEN1 familial acne inversa