hypogonadotropic hypogonadism 1 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 1 with or without anosmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.
Definition from the Mondo Disease Ontology (MONDO:0010635), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
3 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 serum testosterone concentrationHPOHP:0040171
- 2 of 2 reported patients
- MicropenisHPOHP:0000054
- 2 of 2 reported patients
- Small scrotumHPOHP:0000046
- 1 of 2 reported patients
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.
- ANOS1HGNC:6211
- Definitive · ClinGen · X-linked · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: hypogonadotropic hypogonadism 1 with or without anosmia
- Also called
- ANOS1 hypogonadotropic hypogonadismhypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessivehypogonadotropic hypogonadism caused by mutation in ANOS1