FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: lipodystrophy, familial partial
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General Information
Name
lipodystrophy, familial partial
FlyBase ID
FBhh0001526
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as familial partial lipodystrophy (FPLD). Familial partial lipodystrophy is a genetically heterogeneous disorder with multiple implicated genes. A listing of FPLD subtypes, as defined by OMIM, can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated Jul. 2023 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: lipodystrophy, familial partial
OMIM report
Symptoms and phenotype

Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. [from MIM:151660; 2023.07.18]

(OMIM, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
familial partial lipodystrophy
FPLD
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 (2)