: MeSH: Lipodystrophy, Congenital Generalized

Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipodystrophy, Congenital Generalized

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipodystrophy, Congenital Generalized

Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipodystrophy, Congenital Generalized

Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipodystrophy > Lipodystrophy, Congenital Generalized

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Metabolic > Lipodystrophy > Lipodystrophy, Congenital Generalized

Nutritional and Metabolic Diseases > Metabolic Diseases > Skin Diseases, Metabolic > Lipodystrophy > Lipodystrophy, Congenital Generalized

Lipodystrophy, Congenital Generalized

Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. It is caused by mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). It is caused by mutation of gene encoding seipin (BSCL2).

http://data.loterre.fr/ark:/67375/JVR-Z2WDBS3N-W

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