Bardet Biedl Syndrome

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Introduction 3 Epidemiology 4 Genetics 5 Clinical-manifestations 6 Complications 7 More General Terms 8 Internet Database 9 References

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

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

Complications

• associated increased risk for:

• diabetes mellitus
• hypertension
• congenital heart disease

More General Terms

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

Internet Database

OMIM: 209900
OMIM: 209901
OMIM: 606151
OMIM: 600151
OMIM: 600374
OMIM: 603650

References

OMIM [1]

Bardet-Biedl syndrome