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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.


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: C5191005
  • MeSH: -
  • GARD: 12601
  • MedDRA: -

Detailed information


  • Clinical practice guidelines
  • English (2016) - J Clin Endocrinol Metab
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.