Disease

Congenital Generalized Lipodystrophy

About the Disease
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 BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways are Metabolism and IL-9 Signaling Pathways. The drugs Propoxycaine and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related phenotypes are hepatomegaly and lipodystrophy

Common Targets
SYNE2 | CYP21A2 | CEBPA | AGPAT2 | BSCL2 | CAVIN1 | CAV1 | LEPR | LMNA

疾病靶点研报
Congenital Generalized Lipodystrophy

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