FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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General Information
Name
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
FlyBase ID
FBhh0000443
Disease Ontology Term
Parent Disease
OMIM
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO
Overview

This report describes ataxia neuropathy spectrum, one of several diseases associated with the human DNA polymerase gene POLG, which plays a role in replication of mitochondrial DNA. See the human disease model report for mtDNA polymerase disorders, POLG-related (FBhh0000432) for information on experimental results using Drosophila models of this and related diseases. See MIM:174763 for variants of POLG associated with this disease.

[updated Nov. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
OMIM report

[SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO](https://omim.org/entry/607459)

Human gene(s) implicated

[POLYMERASE, DNA, GAMMA; POLG](https://omim.org/entry/174763)

Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
ANS
ataxia neuropathy spectrum
MIRAS
mitochondrial recessive ataxia syndrome
mitochondrial spinocerebellar ataxia-epilepsy syndrome
SANDO
SCAE
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
spinocerebellar ataxia with epilepsy
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)