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PLIN1-related familial partial lipodystrophy

Disease definition

A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.

ORPHA:280356

Classification level: Disorder
  • Synonym(s):
    • FPLD4
    • PLIN1-related FPLD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: E88.1
  • OMIM: 613877
  • UMLS: -
  • MeSH: -
  • GARD: 12601
  • MedDRA: -

Detailed information

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