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Kallmann syndrome

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Kallmann syndrome

ORPHA:478Clinical subtype

Also called Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

What it is

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).

Key facts

Prevalence
1-9 / 100 000 (Europe)
Age of onset
Adolescent, Childhood
Inheritance
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
Classified as
Clinical subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ANOS1Disease-causing germline mutation(s) (loss of function)
CCDC141Disease-causing germline mutation(s)
CHD7Disease-causing germline mutation(s)
DCCDisease-causing germline mutation(s) (loss of function)
DUSP6Disease-causing germline mutation(s)
EMX2Disease-causing germline mutation(s)
FEZF1Disease-causing germline mutation(s) (loss of function)
FGF17Disease-causing germline mutation(s)
FGF8Disease-causing germline mutation(s) (loss of function)
FGFR1Disease-causing germline mutation(s) (loss of function)
FLRT3Disease-causing germline mutation(s)
HESX1Disease-causing germline mutation(s)
HS6ST1Disease-causing germline mutation(s) (loss of function)
IL17RDDisease-causing germline mutation(s)
NDNFDisease-causing germline mutation(s)
PROK2Disease-causing germline mutation(s) (loss of function)
PROKR2Disease-causing germline mutation(s) (loss of function)
SEMA3ADisease-causing germline mutation(s) (loss of function)
SOX10Disease-causing germline mutation(s) (loss of function)
SPRY4Disease-causing germline mutation(s)
TACR3Disease-causing germline mutation(s)
WDR11Disease-causing germline mutation(s)

ICD-10 codes

E23.0filed under a broader ICD-10 category — shared with 23 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Diabetes InsipidusPituitary Disorders

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Adult Day Health, Wellness & Arts CenterDistrict of Columbia

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 10771MEDDRA 10053142MESH D017436MONDO 0018800OMIM 147950OMIM 244200OMIM 308700OMIM 610628OMIM 612370OMIM 612702OMIM 614837OMIM 614838OMIM 614840OMIM 614858OMIM 614880OMIM 614897OMIM 615266OMIM 615267OMIM 615269OMIM 615270OMIM 615271OMIM 616030OMIM 618841UMLS C0162809

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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