FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: D-2-hydroxyglutaric aciduria
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General Information
Name
D-2-hydroxyglutaric aciduria
FlyBase ID
FBhh0000096
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of several diseases classified as D-2-hydroxyglutaric aciduria (D2HGA). D2HGA is a genetically heterogeneous disorder, with at least two implicated genes. A listing of D2HGA subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models. D2HGA is distinct from L-2-hydroxyglutaric aciduria (L2HGA); both are described in the Genetics Home Reference page for 2-hydroxyglutaric aciduria (see link below).

[updated Dec. 2015 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: D-2-hydroxyglutaric aciduria
OMIM report
Symptoms and phenotype

D-2-hydroxyglutaric aciduria is a neurometabolic disorder. Symptoms are varible, ranging from asymptomatic to developmental delay, epilepsy, hypotonia (weak muscle tone), and dysmorphic features. Severe cases are characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. [from MIM:600721, MIM:613657; 2015.12.21]

(OMIM, 2013-)
Genetics

D-2-hydroxyglutaric aciduria (D2HGA) is a genetically heterogeneous disorder, with two implicated genes to date. [from MIM:600721; 2015.12.21]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
2-hydroxyglutaric aciduria
D2HGA
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)