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LIPE-related familial partial lipodystrophy

Disease definition

A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.

ORPHA:435660

Classification level: Disorder
  • Synonym(s):
    • FPLD6
    • LIPE-related FPLD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E88.1
  • OMIM: 615980
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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