Kallmann syndrome
Findings
No curated finding names Kallmann syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
Definition from the Mondo Disease Ontology (MONDO:0018800), read 2026-09-29. CC BY 4.0.
Features
46 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.
- AnosmiaHPOHP:0000458
- Very frequent (80% to 99% of cases)
- Anterior hypopituitarismHPOHP:0000830
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Erectile dysfunctionHPOHP:0100639
- Very frequent (80% to 99% of cases)
- Gonadotropin-releasing hormone deficiencyHPOHP:0003164
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- HyposmiaHPOHP:0004409
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
- Abnormality of the voiceHPOHP:0001608
- Frequent (30% to 79% of cases)
Show the remaining 34
- Breast hypoplasiaHPOHP:0003187
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
Genes
24 genes
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.
- TCF12HGNC:11623
- Strong · Franklin by Genoox · Autosomal recessive · 2020
- Strong · Franklin by Genoox · Autosomal dominant · 2020
- ANOS1HGNC:6211
- Supportive · Orphanet · Autosomal dominant · 2021
- CCDC141HGNC:26821
- Supportive · Orphanet · Autosomal dominant · 2021
- CHD7HGNC:20626
- Supportive · Orphanet · Autosomal dominant · 2021
- DCCHGNC:2701
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (18)
- hypogonadotropic hypogonadism 1 with or without anosmia
- hypogonadotropic hypogonadism 11 with or without anosmia
- hypogonadotropic hypogonadism 14 with or without anosmia
- hypogonadotropic hypogonadism 15 with or without anosmia
- hypogonadotropic hypogonadism 16 with or without anosmia
- hypogonadotropic hypogonadism 17 with or without anosmia
- hypogonadotropic hypogonadism 18 with or without anosmia
- hypogonadotropic hypogonadism 19 with or without anosmia
- hypogonadotropic hypogonadism 2 with or without anosmia
- hypogonadotropic hypogonadism 20 with or without anosmia
- hypogonadotropic hypogonadism 21 with or without anosmia
- hypogonadotropic hypogonadism 22 with or without anosmia
- hypogonadotropic hypogonadism 3 with or without anosmia
- hypogonadotropic hypogonadism 4 with or without anosmia
Other names
3 names
Resolves to: Kallmann syndrome
- Also called
- congenital hypogonadotropic hypogonadism with anosmiahypogonadotropic hypogonadism with anosmiaOlfacto-genital pathological sequence