congenital generalised lipodystrophy

(redirected from Berardinelli-Seip syndrome)

congenital generalised lipodystrophy

A rare autosomal recessive disorder characterised by extreme paucity of adipose tissue from birth and early onset of metabolic complications related to insulin resistance. It has been clinically divided into 3 types, each of which is caused by a different mutation.
 
Molecular pathology
CGL 1—AGPAT2  (acylglycerol 3-phosphate-O-acyltransferase 2);
CGL 2—BSCL2 (Berardinelli Seip Congenital Lipodystrophy 2);
CGL 3—CAV1 (Caveolin-1).