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GENATLAS PHENOTYPE

last update : 06-07-2009

Symbol	BBS4
Location	15q24.1
Name	Bardet-Biedl syndrome 4
Corresponding gene	BBS4
related resource	Retinal Information Network
Main clinical features	early-onset obesity, mental retardation, polydactyly of hands, retinitis pigmentosa, hypogonadism (Bedouin kindred), nephronophtisis and urinary tract malformation, hepatorenal fibrocystic syndrome peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS (Marion 2009)
Genetic determination	autosomal recessive
Function/system disorder	congenital malformation
	eye
	mental retardation
Type	disease

Gene product

Name	BBS4 protein

Remark(s)

mutations are minor contributors to BBS4, and may participate in triallelic inheritance with BBS2 and BBS1 mutation may cause defects in vesicular transport to the cilium (Nachury 2007) interactions between RET and BBS4 would explain the frequent coexpression with Hirschsprung disease phenotypes (de Pontual 2009)