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GENATLAS PHENOTYPE

last update : 28-11-2013

Symbol	KAL1
Location	Xp22.32
Name	Kallmann syndrome 1
Other name(s)	dysplasia olfactogenitalis of de Morsier anosmic hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia
Corresponding gene	KAL1
Other symbol(s)	KMS, HHA, HH1
Main clinical features	characterized by hypogonadotropic hypogonadism and anosmia, maybe associated with renal agenesis or olfactory lobes and ataxia, synkinesia, nystagmus, visual defects, clubfoot, cleft palate
Genetic determination	sex linked
Related entries	including rare cases of sporadic isolated GNRH deficiency
Function/system disorder	congenital malformation
	sex-genitalia
Type	disease

Gene product

Name	cell adhesion and axonal path-finding protein(s) (ADMLX)

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)