GTR Home > Conditions/Phenotypes > Congenital generalized lipodystrophy type 1

Disease characteristics

Excerpted from the GeneReview: Berardinelli-Seip Congenital Lipodystrophy
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.

Available tests

15 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: 1-AGPAT2, BSCL, BSCL1, LPAAB, LPAAT-beta, AGPAT2
    Summary: 1-acylglycerol-3-phosphate O-acyltransferase 2

Clinical features

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  • Umbilical hernia
  • Hirsutism
  • Hyperinsulinemia
  • Hypertriglyceridemia
  • Splenomegaly
  • Decreased fertility in females
  • Polyphagia
  • Tall stature
  • Labial hypertrophy
  • Large hands
  • Long foot
  • Clitoromegaly
  • Insulin-resistant diabetes mellitus at puberty
  • Prominent umbilicus
  • Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
  • Generalized muscular appearance from birth
  • Decreased serum leptin
  • Polycystic ovaries
  • Mandibular prognathia
  • Acanthosis nigricans
  • Cirrhosis
  • Hepatic steatosis
  • Acute pancreatitis
  • Hepatomegaly
  • Cystic angiomatosis of bone
  • Accelerated skeletal maturation
  • Lipodystrophy
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