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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

Terme préférentiel

Lipodystrophy, Congenital Generalized  

Type

  • mesh:Descriptor

Définition

  • 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).

Concept générique

Synonyme(s)

  • Berardinelli-Seip Congenital Lipodystrophy
  • Berardinelli-Seip Syndrome
  • Brunzell Syndrome (with Bone Cysts)
  • Congenital Generalized Lipodystrophy
  • Generalized Lipodystrophy
  • Total Lipodystrophy

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 30/06/2021