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PPARG-related familial partial lipodystrophy

Disease definition

A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.


Classification level: Disorder
  • Synonym(s):
    • FPLD3
    • Familial partial lipodystrophy type 3
    • PPARG-related FPLD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E88.1
  • ICD-11: 5A44
  • OMIM: 604367
  • UMLS: C1720861
  • MeSH: -
  • GARD: 12600
  • MedDRA: -

Detailed information


  • Clinical practice guidelines
  • English (2016) - J Clin Endocrinol Metab

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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