Home Page
Orphanet References OMIM Gene GeneReviews HGMD HGNC
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
    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)