Lipodystrophy, Congenital Generalized, Type 3 (CGL3)

Alias:
Congenital Generalized Lipodystrophy Type 3
Lipodystrophy, Berardinelli-Seip Congenital, Type 3
Berardinelli-Seip Congenital Lipodystrophy, Type 3
Berardinelli-Seip Congenital Lipodystrophy Type 3
Bscl3
Cgl3
Congenital Generalized Lipodystrophy 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipodystrophy, Congenital Generalized, Type 3, also known as congenital generalized lipodystrophy type 3, is related to lipodystrophy, congenital generalized, type 1 and congenital generalized lipodystrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Metabolism of nitric oxide: NOS3 activation and regulation. Affiliated tissues include adipocyte, and related phenotypes are diabetes mellitus and splenomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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9
56
5

Medical Symptom

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Categorization
Description
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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