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, Congenital Generalized
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Tipo
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mesh:Descriptor
Definición
- 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).
Concepto genérico
Etiquetas alternativas
- Berardinelli-Seip Congenital Lipodystrophy
- Berardinelli-Seip Syndrome
- Brunzell Syndrome (with Bone Cysts)
- Congenital Generalized Lipodystrophy
- Generalized Lipodystrophy
- Total Lipodystrophy
En otras lenguas
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francés
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Lipodystrophie congénitale de Berardinelli-Seip
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Lipodystrophie congénitale généralisée
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Lipodystrophies généralisées congénitales
URI
http://data.loterre.fr/ark:/67375/JVR-Z2WDBS3N-W
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