ovarian dysgenesis 5
MONDO:0054666Mondo
Findings
No curated finding names ovarian dysgenesis 5 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
- Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
7 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
- 4 of 4 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 4 of 4 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 4 of 4 reported patients
- Primary amenorrheaHPOHP:0000786
- 4 of 4 reported patients
- Decreased serum estradiolHPOHP:0008214
- 3 of 4 reported patients
- Short statureHPOHP:0004322
- 2 of 4 reported patients
- Delayed skeletal maturationHPOHP:0002750
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.
- HGNC:27845HGNC:27845
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of