FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: myopathy, lactic acidosis, and sideroblastic anemia 3
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General Information
Name
myopathy, lactic acidosis, and sideroblastic anemia 3
FlyBase ID
FBhh0000379
Disease Ontology Term
Parent Disease
OMIM
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3; MLASA3
Overview

This report describes myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3), which is a subtype of myopathy, lactic acidosis, and sideroblastic anemia (MLASA). It is one of several diseases associated with the human mitochondrially-encoded gene MT-ATP6. See the human disease model report for mitochondrial complex V disorders, MT-ATP6-related (FBhh0000376) for information on experimental results using Drosophila models of this and related diseases. See MIM:516060 for variants of MT-ATP6 associated with myopathy, lactic acidosis, and sideroblastic anemia 3.

[updated Aug. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: myopathy, lactic acidosis, and sideroblastic anemia
Symptoms and phenotype
Specific Disease Summary: myopathy, lactic acidosis, and sideroblastic anemia 3
OMIM report
Human gene(s) implicated
Symptoms and phenotype

MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by Burrage et al., 2014; pubmed:25037980). [from MIM:500011; 2016.08.26]

(OMIM, 2013-)
Genetics

MLASA3 is caused by heteroplasmic mutation in the mitochondrial-encoded ATP6 gene (MT-ATP6). One such patient has been reported. [from MIM:500011; 2016.08.26]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
MLASA3
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MT-ATP6; mitochondrially encoded ATP synthase membrane subunit 6
    D. melanogaster ortholog (based on DIOPT)
    Dmel\mt:ATPase6
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 2 human to 1 Drosophila; the additional orthologous human gene is MT-ATP8.

    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)