FB2025_01 , released February 20, 2025
Human Disease Model Report: coenzyme Q10 deficiency, primary
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General Information
Name
coenzyme Q10 deficiency, primary
FlyBase ID
FBhh0001446
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as primary coenzyme Q10 deficiency (COQ10D). COQ10D is characterized by a reduction of coenzyme Q10 (ubiquinone) levels associated with mutation of one of the genes involved in the biosynthesis of coenzyme Q10. A comprehensive list of COQ10D subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated Apr. 2022 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: coenzyme Q10 deficiency, primary
OMIM report
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
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)