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AKT2-related familial partial lipodystrophy

Disease definition

A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.

ORPHA:79085

Classification level: Disorder
  • Synonym(s):
    • AKT2-related FPLD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E88.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 12599
  • MedDRA: -

Detailed information

Professionals

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