Lipodystrophy, Congenital Generalized, Type 1 (CGL1)

Alias:
Congenital Generalized Lipodystrophy Type 1
Berardinelli-Seip Congenital Lipodystrophy, Type 1
Lipodystrophy, Berardinelli-Seip Congenital, Type 1
Brunzell Syndrome, Agpat2-Related
Brunzell Syndrome Agpat2-Related
Bscl1
Cgl1
Berardinelli-Seip Congenital Lipodystrophy Type 1
Total Lipodystrophy and Acromegaloid Gigantism
Lipodystrophy, Generalized, Congenital, Type 1
Congenital Generalized Lipodystrophy 1
Familial Partial Lipodystrophy, Type 2
Familial Generalized Lipodystrophy
Lipodystrophy Berardinelli Type
Lipoatrophic Diabetes Mellitus
Berardinelli-Seip Syndrome
Lipoatrophic Diabetes
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipodystrophy, Congenital Generalized, Type 1, also known as congenital generalized lipodystrophy type 1, is related to lipodystrophy, familial partial, type 2 and acquired generalized lipodystrophy, and has symptoms including myalgia An important gene associated with Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Adipogenesis. The drugs Empagliflozin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are cardiomyopathy and hepatomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
AR
Unknown
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8
77
38

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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