hypogonadotropic hypogonadism 13 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 13 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 KISS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013915), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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 follicle stimulating hormone concentrationHPOHP:0030341
- 4 of 4 reported patients
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 4 of 4 reported patients
- Decreased serum estradiolHPOHP:0008214
- 4 of 4 reported patients
- AnosmiaHPOHP:0000458
- 0 of 4 reported patients
- Delayed skeletal maturationHPOHP:0002750
- Hypogonadotropic hypogonadismHPOHP:0000044
- Hypoplasia of the uterusHPOHP:0000013
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.
- KISS1HGNC:6341
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: hypogonadotropic hypogonadism 13 with or without anosmia
- Also called
- hypogonadotropic hypogonadism caused by mutation in KISS1KISS1 hypogonadotropic hypogonadism