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Congenital generalized lipodystrophy

Disease definition

A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.

ORPHA:528

Classification level: Disorder
  • Synonym(s):
    • BSCL
    • Berardinelli-Seip congenital lipodystrophy
    • Berardinelli-Seip syndrome
    • CGL
    • Lipoatrophic diabetes
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.1
  • OMIM: 269700  606721  608594  612526  613327
  • UMLS: C0011859  C0221032
  • MeSH: -
  • GARD: -
  • MedDRA: 10024603

Detailed information

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