ovarian dysgenesis 3
MONDO:0013689Mondo
Findings
No curated finding names ovarian dysgenesis 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.
Definition from the Mondo Disease Ontology (MONDO:0013689), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile 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.
- Aplasia of the ovaryHPOHP:0010463
- 3 of 3 reported patients
- Delayed pubertyHPOHP:0000823
- 3 of 3 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 3 of 3 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 3 of 3 reported patients
- Primary amenorrheaHPOHP:0000786
- 5 of 5 reported patients
- Female infertilityHPOHP:0008222
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.
- PSMC3IPHGNC:17928
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: ovarian dysgenesis 3
- Also called
- 46 XX gonadal dysgenesis caused by mutation in PSMC3IPovarian dysgenesis type 3PSMC3IP 46 XX gonadal dysgenesis