Variants
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PLIN1-related familial partial lipodystrophy

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Description

Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

8

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Genes

External Links

  • OMIM

    613877

  • Orphanet

    280356

  • HPO
  • Medgen

    C3151268

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