hypogonadotropic hypogonadism 4 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 4 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 PROK2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012528), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Absence of pubertal developmentHPOHP:0008197
- 3 of 3 reported patients
- Aplasia of the olfactory bulbHPOHP:0032466
- 1 of 1 reported patient
- HyposmiaHPOHP:0004409
- 2 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients
- Bimanual synkinesiaHPOHP:0001335
- 1 of 4 reported patients
- Diabetes mellitusHPOHP:0000819
- 1 of 4 reported patients
- OsteoporosisHPOHP:0000939
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:18455HGNC:18455
- Definitive · ClinGen · Semidominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- 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 4 with or without anosmia
- Also called
- hypogonadotropic hypogonadism caused by mutation in PROK2PROK2 hypogonadotropic hypogonadism