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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

Terme préférentiel

Lipodystrophy, Familial Partial  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Familial Partial Lipodystrophy
  • Koberling-Dunnigan Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 01/07/2021