congenital generalized lipodystrophy type 2

info · Genetic · ICD-10: E88.1

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

Signs and symptoms

Acanthosis nigricans
Elevated hemoglobin A1c
Reduced subcutaneous adipose tissue
Type II diabetes mellitus
Hepatic steatosis
Labial hypertrophy
Large hands
Mild intellectual disability
Decreased fertility
Cirrhosis

Also known as: Berardinelli-Seip congenital lipodystrophy type 2; Berardinelli-Seip syndrome; Brunzell syndrome BSCL2-related; CGL2; congenital lipoatrophic diabetes