hypogonadotropic hypogonadism 10 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 10 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 TAC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013912), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive 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.
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 8 of 8 reported patients
- Decreased serum testosterone concentrationHPOHP:0040171
- 2 of 2 reported patients · Male
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- 2 of 8 reported patients
- Hypogonadotropic hypogonadismHPOHP:0000044
- Primary amenorrheaHPOHP:0000786
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.
- TAC3HGNC:11521
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
2 names
Resolves to: hypogonadotropic hypogonadism 10 with or without anosmia
- Also called
- hypogonadotropic hypogonadism caused by mutation in TAC3TAC3 hypogonadotropic hypogonadism