Congenital Generalized Lipodystrophy (CGL)

Congenital Generalized Lipodystrophy(来自ICD-11)

别称:

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Bscl

Lipodystrophy, Congenital Generalized

Generalized Lipodystrophy

Lipoatrophic Diabetes

Cgl

Congenital Generalized Lipodystrophy Type 2

Lipodystrophy, Generalized, Congenital

Familial Partial Lipodystrophy, Type 2

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Total Lipodystrophy

Brunzell Syndrome

Seip Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Generalized Lipodystrophy, also known as berardinelli-seip congenital lipodystrophy, is related to lipodystrophy, congenital generalized, type 4 and lipodystrophy, congenital generalized, type 3, and has symptoms including myalgia An important gene associated with Congenital Generalized Lipodystrophy is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways are Metabolism and IL-9 Signaling Pathways. The drugs Propoxycaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are hepatomegaly and lipodystrophy

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