hypogonadotropic hypogonadism 2 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 2 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 FGFR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007844), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Delayed pubertyHPOHP:0000823
- 6 of 8 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 6 reported patients
- AnosmiaHPOHP:0000458
- 2 of 8 reported patients
- Aplasia of the olfactory bulbHPOHP:0032466
- 1 of 4 reported patients
- Tooth agenesisHPOHP:0009804
- 2 of 8 reported patients
- Cleft palateHPOHP:0000175
- 1 of 8 reported patients
- Cleft upper lipHPOHP:0000204
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.
- FGFR1HGNC:3688
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: hypogonadotropic hypogonadism 2 with or without anosmia
- Also called
- FGFR1 hypogonadotropic hypogonadismhypogonadotropic hypogonadism caused by mutation in FGFR1