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GENATLAS PHENOTYPE

last update : 06-07-2009

Symbol	BBS7
Location	4q27
Name	Bardet-Biedl syndrome 7
Corresponding gene	BBS7
Main clinical features	retinitis pigmentosa, mental retardation, polydactyly, obesity, hypogenitalism, nephronophtisis and urinary tract malformation peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS (Marion 2009)
Genetic determination	autosomal recessive
Prevalence	in 4.2p100 of BBS families
Function/system disorder	congenital malformation
	eye
	mental retardation
Type	disease

Gene product

Name	Bardet-Biedl syndrome 7 gene participating to triallelic inheritance with BBS1

Remark(s)

interactions between RET and BBS5 would explain the frequent coexpression with Hirschsprung disease phenotypes (de Pontual 2009)