premature ovarian failure 2A
Findings
No curated finding names premature ovarian failure 2A 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 DIAPH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010350), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
4 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.
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 2 of 2 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 2 of 2 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 1 of 1 reported patient
- Secondary amenorrheaHPOHP:0000869
- 2 of 2 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.
- DIAPH2HGNC:2877
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: premature ovarian failure 2A
- Also called
- DIAPH2 primary ovarian failurepremature ovarian failure 2A, X-linked dominantpremature ovarian failure type 2Aprimary ovarian failure caused by mutation in DIAPH2