acne inversa, familial, 2
Findings
No curated finding names acne inversa, familial, 2 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 PSENEN gene.
Definition from the Mondo Disease Ontology (MONDO:0013397), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
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.
- Acne inversaHPOHP:0040154
- 3 of 3 reported patients
- Chronic furunculosisHPOHP:0011132
- 3 of 3 reported patients
- Recurrent cutaneous abscess formationHPOHP:0100838
- 3 of 3 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.
- PSENENHGNC:30100
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: acne inversa, familial, 2
- Also called
- acne inversa, familial, type 2familial acne inversa caused by mutation in PSENENPSENEN familial acne inversa