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GENATLAS PHENOTYPE
last update : 06-07-2009
Symbol BBS1
Location 11q13.1
Name Bardet-Biedl syndrome 1
Corresponding gene BBS1
related resource Retinal Information Network
Other symbol(s) BBS
Main clinical features
  • obesity, mental retardation, polydactyly, retinitis pigmentosa, nephronophtisis, urinary tract malformation, hypogonadism
  • 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 BBS1 protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
          M390R mutation major in Newfoundland people
    Remark(s)
  • mutation may cause defects in vesicular transport to the cilium (Nachury 2007)
  • gene participating to triallelic inheritance with BBS2, BBS4, BBS6, BBS7