congenital generalised lipodystrophy(redirected from Berardinelli-Seip syndrome)
congenital generalised lipodystrophyA 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.
CGL 1—AGPAT2 (acylglycerol 3-phosphate-O-acyltransferase 2);
CGL 2—BSCL2 (Berardinelli Seip Congenital Lipodystrophy 2);
CGL 3—CAV1 (Caveolin-1).