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Kallmann syndrome

MONDO:0018800

Also known as: Olfacto-genital pathological sequence, congenital hypogonadotropic hypogonadism with anosmia, hypogonadotropic hypogonadism with anosmia

MONDO:
MONDO:0018800
Orphanet:
478
Rare disease39 associated genes

Description

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).

Associated genes

+29 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.