congenital generalized lipodystrophy type 3; Berardinelli-Seip congenital lipodystrophy type 3

Epidemiology

rare

Genetics

• autosomal recessive
• associated with defects in caveolin-1 gene

Clinical manifestations

• near-absence of adipose tissue from birth or early infancy
• severe insulin resistance, early onset of diabetes
• hepatic steatosis

Laboratory

• serum triglycerides: hypertriglyceridemia

More general terms

• congenital lipodystrophy

Database

• OMIM: https://mirror.omim.org/entry/26612526