FB2024_03 , released June 25, 2024
Human Disease Model Report: lipodystrophy, congenital generalized
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General Information
Name
lipodystrophy, congenital generalized
FlyBase ID
FBhh0000574
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as congenital generalized lipodystrophy (CGL). Congenital generalized lipodystrophy is a genetically heterogeneous disorder with multiple causative genes and mapped loci. CGL subtypes, as defined by OMIM, can be found in the 'Related Diseases' section, below, by following the link in the "OMIM phenotypic series" section or in the table, which includes links to more detailed reports for subtypes that have been investigated using fly models.

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: lipodystrophy, congenital generalized
OMIM report
Symptoms and phenotype

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004; pubmed:15028826). [from MIM:269700; 2017.07.10]

(OMIM, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Berardinelli-Seip syndrome
CGL
congenital generalized lipodystrophy
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)