Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Término preferido
Lipodystrophy, Familial Partial
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Familial Partial Lipodystrophy
- Koberling-Dunnigan Syndrome
En otras lenguas
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francés
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Lipodystrophie familiale partielle
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Syndrome de Köbberling-Dunnigan
URI
http://data.loterre.fr/ark:/67375/JVR-FX7ZNNRZ-9
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