premature ovarian failure 11
Findings
No curated finding names premature ovarian failure 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014843), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult 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.
- Secondary amenorrheaHPOHP:0000869
- 6 of 6 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- OligomenorrheaHPOHP:0000876
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.
- HGNC:3438HGNC:3438
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: premature ovarian failure 11
- Also called
- ERCC6 primary ovarian failurePOF11premature ovarian failure 11; POF11premature ovarian failure type 11primary ovarian failure caused by mutation in ERCC6