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Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipodystrophy, Familial Partial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipodystrophy, Familial Partial
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipodystrophy, Familial Partial
Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipodystrophy > Lipodystrophy, Familial Partial
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Metabolic > Lipodystrophy > Lipodystrophy, Familial Partial
Nutritional and Metabolic Diseases > Metabolic Diseases > Skin Diseases, Metabolic > Lipodystrophy > Lipodystrophy, Familial Partial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Laminopathies > Lipodystrophy, Familial Partial

Preferred term

Lipodystrophy, Familial Partial  

Type

  • mesh:Descriptor

Definition

  • 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. This type can be caused by mutation in the gene encoding LAMIN TYPE A. This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

Broader concept

Related concepts

Entry terms

  • Familial Partial Lipodystrophy
  • Koberling-Dunnigan Syndrome

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-FX7ZNNRZ-9

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RDF/XML TURTLE JSON-LD Created 7/5/06, last modified 7/1/21