premature ovarian failure 17
MONDO:0030870Mondo
Findings
No curated finding names premature ovarian failure 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
6 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.
- Decreased circulating antimullerian hormone circulationHPOHP:0031103
- 1 of 1 reported patient
- Decreased circulating inhibin B concentrationHPOHP:0031100
- 1 of 1 reported patient
- Decreased serum estradiolHPOHP:0008214
- 1 of 1 reported patient
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 1 of 1 reported patient
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 1 of 1 reported patient
- Premature ovarian insufficiencyHPOHP:0008209
- 1 of 1 reported patient
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.
- XRCC2HGNC:12829
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: premature ovarian failure 17
- Also called
- POF17