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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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Accession:DOID:0111276 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)
Synonyms:exact_synonym: ATAXIA NEUROPATHY SPECTRUM DISORDERS;   EPM5;   MIRAS;   SANDO;   ataxia neuropathy spectrum;   autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions;   mitochondrial recessive ataxia syndrome;   progressive myoclonic epilepsy 5;   sensory ataxia neuropathy, dysarthria and ophthalmoplegia
 narrow_synonym: ATAXIA WITH DYSARTHRIA;   EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY;   SCAE
 primary_id: MESH:C537583
 alt_id: MESH:C579922;   OMIA:001467;   OMIM:607459
 xref: ORDO:70595


show annotations for term's descendants           Sort by:
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 IAGP ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915 		JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP
EXP		 DNA:missense mutations:cds:
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... RGD:8694282, RGD:8694285 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLGARF POLG alternative reading frame IAGP ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,330,208...89,333,809 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 IAGP ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:21276947 PMID:25326635 PMID:25741868 PMID:26942291 PMID:26942292 NCBI chr 3:64,092,236...64,268,173
Ensembl chr 3:64,092,236...64,445,476 		JBrowse link
G PRICKLE2-AS1 PRICKLE2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:21276947 PMID:25326635 PMID:25741868 PMID:26942291 PMID:26942292 NCBI chr 3:64,067,964...64,103,131
Ensembl chr 3:64,067,964...64,103,131
Ensembl chr 3:64,067,964...64,103,131 		JBrowse link
G TWNK twinkle mtDNA helicase EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 CTD
ClinVar		 PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    Nutritional and Metabolic Diseases 10577
      disease of metabolism 10577
        mitochondrial metabolism disease 1235
          sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 8
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        central nervous system disease 23611
          brain disease 22049
            disease of mental health 17235
              developmental disorder of mental health 12024
                specific developmental disorder 7418
                  communication disorder 606
                    language disorder 224
                      speech disorder 110
                        articulation disorder 24
                          Dysarthria 19
                            sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 8
paths to the root