hypogonadotropic hypogonadism 3 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 3 with or without anosmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0009482), read 2026-09-29. CC BY 4.0.
Features
10 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 olfactory bulbHPOHP:0032466
- 4 of 6 reported patients
- HyposmiaHPOHP:0004409
- 5 of 10 reported patients
- Pes planusHPOHP:0001763
- 3 of 10 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 8 reported patients
- Bimanual synkinesiaHPOHP:0001335
- 2 of 10 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 10 reported patients
- AnosmiaHPOHP:0000458
- 1 of 10 reported patients
- Finger joint hypermobilityHPOHP:0006094
- 1 of 10 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 10 reported patients
- SeizureHPOHP:0001250
- 1 of 10 reported patients
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.
- PROKR2HGNC:15836
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: hypogonadotropic hypogonadism 3 with or without anosmia
- Also called
- hypogonadotropic hypogonadism caused by mutation in PROKR2PROKR2 hypogonadotropic hypogonadism