premature ovarian failure 5
Findings
No curated finding names premature ovarian failure 5 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 NOBOX gene.
Definition from the Mondo Disease Ontology (MONDO:0012689), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Premature ovarian insufficiencyHPOHP:0008209
- 1 of 1 reported patient
- Secondary amenorrheaHPOHP:0000869
- 9 of 12 reported patients
- Hypoplasia of the ovaryHPOHP:0008724
- 5 of 12 reported patients
- Primary amenorrheaHPOHP:0000786
- 3 of 12 reported patients
- Streak ovaryHPOHP:0010464
- 1 of 12 reported patients
- Reduced antral follicle countHPOHP:0033085
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.
- NOBOXHGNC:22448
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: premature ovarian failure 5
- Also called
- NOBOX primary ovarian failurepremature ovarian failure type 5primary ovarian failure caused by mutation in NOBOX