Berardinelli-Seip Congenital Lipodystrophy

Alias:
Berardinelli-Seip Congenital Generalized Lipodystrophy
Familial Generalized Lipodystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Berardinelli-Seip Congenital Lipodystrophy, also known as berardinelli-seip congenital generalized lipodystrophy, is related to lipodystrophy, congenital generalized, type 4 and lipodystrophy, congenital generalized, type 1. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways are Glucose / Energy Metabolism and Adipogenesis. Affiliated tissues include adipocyte and bone, and related phenotypes are limbs/digits/tail and adipose tissue
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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3
35
33

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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Publications
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References Literature

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