premature ovarian failure 2B
Findings
No curated finding names premature ovarian failure 2B 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 POF1B gene.
Definition from the Mondo Disease Ontology (MONDO:0010373), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance · Female-limited expression
- 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.
- Female infertilityHPOHP:0008222
- 5 of 5 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 5 of 5 reported patients
- Primary amenorrheaHPOHP:0000786
- 5 of 5 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 2 of 5 reported patients
- OsteoporosisHPOHP:0000939
- 2 of 5 reported patients
- Delayed pubertyHPOHP:0000823
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.
- POF1BHGNC:13711
- Moderate · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: premature ovarian failure 2B
- Also called
- POF1B primary ovarian failurepremature ovarian failure 2B, X-linked recessivepremature ovarian failure type 2Bprimary ovarian failure caused by mutation in POF1B