premature ovarian failure 7
Findings
No curated finding names premature ovarian failure 7 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 NR5A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013065), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sex-limited expression
HPO, annotations 2026-09-02
Features
9 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
- 9 of 9 reported patients · Female
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 9 of 9 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 4 of 9 reported patients · Female
- Primary amenorrheaHPOHP:0000786
- 4 of 9 reported patients · Female
- Absent pubic hairHPOHP:0002555
- 2 of 9 reported patients
- Clitoral hypertrophyHPOHP:0008665
- 2 of 9 reported patients · Female
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.
- NR5A1HGNC:7983
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: premature ovarian failure 7
- Also called
- NR5A1 primary ovarian failurepremature ovarian failure type 7primary ovarian failure caused by mutation in NR5A1