premature ovarian failure 6
Findings
No curated finding names premature ovarian failure 6 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 FIGLA gene.
Definition from the Mondo Disease Ontology (MONDO:0012861), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sex-limited expression
HPO, annotations 2026-09-02
Features
8 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.
- Female infertilityHPOHP:0008222
- 4 of 4 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 2 of 4 reported patients
- Streak ovaryHPOHP:0010464
- 2 of 4 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- Premature ovarian insufficiencyHPOHP:0008209
- Primary amenorrheaHPOHP:0000786
- Secondary amenorrheaHPO
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:24669HGNC:24669
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: premature ovarian failure 6
- Also called
- FIGLA primary ovarian failurepremature ovarian failure type 6primary ovarian failure caused by mutation in FIGLA