Orphanet: Berardinelli Seip congenital lipodystrophy

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Berardinelli-Seip congenital lipodystrophy

Disease definition

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).


Classification level: Disorder
  • Synonym(s):
    • BSCL
    • Berardinelli-Seip syndrome
    • GCL
    • Generalized congenital lipodystrophy
    • 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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