Familial Partial Lipodystrophy

Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

Also Known As:

Dunnigan Syndrome; Lipodystrophy, Familial Partial; Familial Partial Lipodystrophy, Kobberling Type; Familial Partial Lipodystrophy, Type 1; Familial Partial Lipodystrophy, Type 2; Familial Partial Lipodystrophy, Type 3; Koberling-Dunnigan Syndrome; Lipodystrophy, Familial Partial, Associated With PPARg Mutations; Lipodystrophy, Familial Partial, Dunnigan Type; Lipodystrophy, Familial Partial, Kobberling Type; Lipodystrophy, Familial Partial, Type 1; Lipodystrophy, Familial Partial, Type 2; Lipodystrophy, Familial Partial, Type 3; Lipodystrophy, Familial, of Limbs and Lower Trunk; Lipodystrophy, Reverse Partial; Familial Partial Lipodystrophies; Koberling Dunnigan Syndrome; Partial Lipodystrophies, Reverse; Partial Lipodystrophy, Familial; Partial Lipodystrophy, Reverse; Reverse Partial Lipodystrophies; Reverse Partial Lipodystrophy

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Laminopathies: 493
    - Familial Partial Lipodystrophy: 178
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Metabolic Skin Diseases: 1
    - Lipodystrophy: 2323
      - Familial Partial Lipodystrophy: 178
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Lipid Metabolism Disorders: 987
    - Lipodystrophy: 2323
      - Familial Partial Lipodystrophy: 178
    - Inborn Errors Lipid Metabolism
      - Familial Partial Lipodystrophy: 178
  - Metabolic Skin Diseases: 1
    - Lipodystrophy: 2323
      - Familial Partial Lipodystrophy: 178

A E Emery Selected Research

A E Emery Research Topics

Disease

Drug/Important Bio-Agent (IBA)