Bardet-Biedl syndrome type 11

(redirected from BBS11)

Bardet-Biedl syndrome type 11

An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. It is variably accompanied by diabetes mellitus, hypertension and congenital heart disease. BBS is more common in mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, due a founder effect stemming from the high rate of consanguinity in these populations.
 
Molecular pathology
Defects of TRIM32, which encodes a trim motif protein which acts as an E3 ubiquitin-protein ligase, cause Bardet-Biedl syndrome type 11.