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GENATLAS PHENOTYPE

last update : 28-11-2013

Symbol	KAL2
Location	8p11.22
Name	Kallmann syndrome 2
Other name(s)	anosmic isolated hypogonadotrophic hypogonadism hypogonadotropic hypogonadism 2 with or without anosmia
Corresponding gene	FGFR1
Other symbol(s)	IHH, aIHH, HH2
Main clinical features	isolated hypogonadotrophic hypogonadism in association with olfactory abnormalities complete or partial absence of endogeneous gonadotropin-releasing hormone (GnRH) - induced gonadotropin secretion or action
Genetic determination	autosomal dominant
Function/system disorder	endocrinology
	multisystem/generalized
Type	disease

Gene product

Name	fibroblast growth factor-8 receptor 1

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	multiple mutations
frameshift		abnormal protein/loss of function
insertion		abnormal protein/loss of function

Remark(s)

loss-of-function mutations in KAL1 and FGFR1 account for approximately 20% of all cases of Kallmann syndrome and mutations in the PROKR2 and PROK2 genes account for an additional 10% (Dode,06)