Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital hypogonadotropic hypogonadism with anosmia 1

Congenital hypogonadotropic hypogonadism without/with anosmia 1 is an autosomal dominant disorder caused by mutations of the KAL1 (ANOS1) gene. Sexual maturation is typically disturbed and associated with low levels of gonadotropin and testosterone. Anosmia can be present and is called Kallmann syndrome then.

Systematic

Disorders of sex development
Congenital hypogonadotropic hypogonadism with anosmia 1
ANOS1
Congenital hypogonadotropic hypogonadism without anosmia 4
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Hypogonadotropic hypogonadism 6 with or without anosmia
Müllerian aplasia and hyperandrogenism
SERKAL syndrome

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OMIM.ORG article

Omim 308700 [^]
Update: April 29, 2019