Bardet-Biedl syndrome

Introduction

obesity syndrome; genetic disorder.

Epidemiology

• relatively high incidence in mixed Arab populations of Kuwait & in Bedouin tribes throughout the Middle East, likely due to consaguinity & a founder effect

Genetics

• genetically heterogeneous disorder
• autosomal recessive
• at least 9 loci:
  • BBS1 11q13
  • BBS2 16q21
  • BBS3 3p13-p12
  • BBS4 15q22.3-q23
  • BBS5 2q31
  • BBS6 20p12
  • BBS7 4q27
  • BBS8 4q32.11
  • BBS9 7p15
• mutations in MKKS, TRIM32, PTHB1/BBS9 genes
• defects in BBS2, BBS4, BBS5, BBS10, BBS12, ARL6, CEP290 genes
• other implicated genes MYO9A,

Clinical manifestations

• early onset obesity
• severe pigmentary retinopathy
• polydactyly
• renal malformations
• mental retardation
• hypogenitalism

Laboratory

• BBS1 gene mutation
• BBS2 gene mutation
• BBS10 gene mutation

Complications

• associated increased risk for:
  • diabetes mellitus
  • hypertension
  • congenital heart disease

More general terms

• genetic syndrome (multisystem disorder)
• metabolic disease
• endocrine disease

More specific terms

• Bardet-Biedl syndrome/BBS1
• Bardet-Biedl syndrome/BBS11
• Bardet-Biedl syndrome/BBS14
• Bardet-Biedl syndrome/BBS2
• Bardet-Biedl syndrome/BBS3
• Bardet-Biedl syndrome/BBS4
• Bardet-Biedl syndrome/BBS5
• Bardet-Biedl syndrome/BBS6
• Bardet-Biedl syndrome/BBS7
• Bardet-Biedl syndrome/BBS8

Patient information

Bardet-Biedl syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/209901
• OMIM: https://mirror.omim.org/entry/606151
• OMIM: https://mirror.omim.org/entry/600151
• OMIM: https://mirror.omim.org/entry/600374
• OMIM: https://mirror.omim.org/entry/603650