hypogonadotropic hypogonadism 17 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 17 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 SPRY4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014102), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Hearing impairmentHPOHP:0000365
- 3 of 14 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 2 of 14 reported patients
- OsteopeniaHPOHP:0000938
- 2 of 14 reported patients
- Hypogonadotropic hypogonadismHPOHP:0000044
- HyposmiaHPOHP:0004409
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.
- SPRY4HGNC:15533
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: hypogonadotropic hypogonadism 17 with or without anosmia
- Also called
- hypogonadotropic hypogonadism caused by mutation in SPRY4SPRY4 hypogonadotropic hypogonadism