SANDO
MCID: SNS008
MIFTS: 24

Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO) malady

Rare diseases, Neuronal diseases categories
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Summaries for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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33MalaCards
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MalaCards: Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis, also known as SANDO, is related to neuropathy and ataxia neuropathy spectrum. An important gene associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis is POLG (polymerase (DNA directed), gamma). Related mouse phenotype embryogenesis.

Aliases & Classifications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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43NIH Rare Diseases, 22GTR, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 43 22 62
sando 43


Related Diseases for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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17GeneCards, 18GeneDecks
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Diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.0POLG, C10orf2
2ataxia neuropathy spectrum10.7
3c10orf2-related ataxia neuropathy spectrum disorders10.5
4polg-related ataxia neuropathy spectrum disorders10.5
5ophthalmoplegia10.3
6ataxia10.2
7dysphagia10.0
8alpers syndrome10.0POLG, C10orf2
9chronic progressive external ophthalmoplegia10.0POLG, C10orf2
10spinocerebellar ataxia10.0C10orf2, POLG
11mitochondrial disorders9.9POLG, C10orf2

Graphical network of diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:



Diseases related to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Symptoms for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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Drugs & Therapeutics for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Search NIH Clinical Center for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Genetic Tests for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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22GTR
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Genetic tests related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

id Genetic test Affiliating Genes
1 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis22

Anatomical Context for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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Animal Models for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1POLG, C10orf2

Publications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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52PubMed
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Articles related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

idTitleAuthorsYear
1
A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions. (23524600)
2013
2
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. (19813183)
2010

Variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

1
id Gene Name Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.1399G> A (p.Ala467Thr)single nucleotide variantPathogenicrs113994095GRCh37Chr 15, 89870432: 89870432
2POLGNM_002693.2(POLG): c.1879C> T (p.Arg627Trp)single nucleotide variantPathogenicrs121918046GRCh37Chr 15, 89868751: 89868751
3POLGNM_002693.2(POLG): c.2794C> T (p.His932Tyr)single nucleotide variantPathogenicrs121918048GRCh37Chr 15, 89864184: 89864184
4POLGNM_002693.2(POLG): c.3151G> C (p.Gly1051Arg)single nucleotide variantPathogenicrs121918049GRCh37Chr 15, 89862284: 89862284
5POLGNM_002693.2(POLG): c.2243G> C (p.Trp748Ser)single nucleotide variantPathogenicrs113994097GRCh37Chr 15, 89866657: 89866657
6C10orf2NM_021830.4(C10orf2): c.955A> G (p.Lys319Glu)single nucleotide variantPathogenicrs80356543GRCh37Chr 10, 102748922: 102748922

Expression for genes affiliated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Search GEO for disease gene expression data for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis.

Pathways for genes affiliated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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Compounds for genes affiliated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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GO Terms for genes affiliated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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16Gene Ontology
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Cellular components related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.1POLG, C10orf2

Biological processes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.1POLG, C10orf2
2mitochondrial DNA replicationGO:0062648.8POLG, C10orf2

Molecular functions related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.1POLG, C10orf2

Products for genes affiliated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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Sources for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet