Bardet-Biedl syndrome

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: 1) genetically heterogeneous disorder 2) autosomal recessive 3) at least 9 loci: a) BBS1 11q13 b) BBS2 16q21 c) BBS3 3p13-p12 d) BBS4 15q22.3-q23 e) BBS5 2q31 f) BBS6 20p12 g) BBS7 4q27 h) BBS8 4q32.11 i) BBS9 7p15 4) mutations in MKKS, TRIM32, PTHB1/BBS9 genes 5) defects in BBS2, BBS4, BBS5, BBS10, BBS12, ARL6, CEP290 genes 6) other implicated genes MYO9A, Clinical manifestations: 1) early onset obesity 2) severe pigmentary retinopathy 3) polydactyly 4) renal malformations 5) mental retardation 6) hypogenitalism Laboratory: - BBS1 gene mutation - BBS2 gene mutation - BBS10 gene mutation Complications: -> associated increased risk for: a) diabetes mellitus b) hypertension c) congenital heart disease

Specific

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

General

endocrine disease genetic syndrome (multisystem disorder) metabolic disease

Database Correlations

OMIM correlations MORBIDMAP correlations

References

OMIM :accession 209900