acne inversa, familial, 1
MONDO:0007728Mondo
Findings
No curated finding names acne inversa, familial, 1 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 NCSTN gene.
Definition from the Mondo Disease Ontology (MONDO:0007728), read 2026-09-29. CC BY 4.0.
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.
- NCSTNHGNC:17091
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: acne inversa, familial, 1
- Also called
- acne inversa, familial, type 1familial acne inversa caused by mutation in NCSTNNCSTN familial acne inversa