premature ovarian failure 9
Findings
No curated finding names premature ovarian failure 9 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 HFM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014322), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- AmenorrheaHPOHP:0000141
- 3 of 3 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 3 of 3 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 3 of 3 reported patients
- Hypoplasia of the ovaryHPOHP:0008724
- 3 of 3 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 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.
- HFM1HGNC:20193
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: premature ovarian failure 9
- Also called
- HFM1 primary ovarian failurepremature ovarian failure type 9primary ovarian failure caused by mutation in HFM1