ANS
MCID: ATX010
MIFTS: 41

Ataxia Neuropathy Spectrum (ANS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Ataxia Neuropathy Spectrum

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Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).

MalaCards: Ataxia Neuropathy Spectrum, also known as mitochondrial recessive ataxia syndrome, is related to spinocerebellar ataxia and chronic progressive external ophthalmoplegia. An important gene associated with Ataxia Neuropathy Spectrum is POLG (polymerase (DNA directed), gamma). Affiliated tissues include skeletal muscle, and related mouse phenotype embryogenesis.

Description from OMIM:47 607459

Aliases & Classifications for Ataxia Neuropathy Spectrum

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Sources:
62UMLS, 21Genetics Home Reference, 49Orphanet, 47OMIM, 36MESH via Orphanet, 63UMLS via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spinocerebellar ataxia with epilepsy:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood
sando:
Inheritance: Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

ataxia neuropathy spectrum 21
mitochondrial recessive ataxia syndrome 21 47
spinocerebellar ataxia with epilepsy 49 62
miras 21 49
sando 21 49
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 62
sensory ataxic neuropathy - dysarthria - ophthalmoparesis 49
sensory ataxia neuropathy dysarthria and ophthalmoplegia 21
mitochondrial spinocerebellar ataxia with epilepsy 49
recessive mitochondrial ataxia syndrome 49
mscae 49
scae 49
ans 21


External Ids:

OMIM47 607459
MESH via Orphanet36 C537583
UMLS via Orphanet63 C1843851
ICD10 via Orphanet26 G71.3, G11.8

Related Diseases for Ataxia Neuropathy Spectrum

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ataxia Neuropathy Spectrum:



Diseases related to ataxia neuropathy spectrum

Symptoms for Ataxia Neuropathy Spectrum

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

607459

Clinical features from OMIM:

607459

Drugs & Therapeutics for Ataxia Neuropathy Spectrum

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ataxia Neuropathy Spectrum

Search NIH Clinical Center for Ataxia Neuropathy Spectrum

Genetic Tests for Ataxia Neuropathy Spectrum

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Anatomical Context for Ataxia Neuropathy Spectrum

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33MalaCards
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MalaCards organs/tissues related to Ataxia Neuropathy Spectrum:

33
Skeletal muscle

Animal Models for Ataxia Neuropathy Spectrum or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Ataxia Neuropathy Spectrum:

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

Publications for Ataxia Neuropathy Spectrum

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Sources:
52PubMed
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Articles related to Ataxia Neuropathy Spectrum:

idTitleAuthorsYear
1
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. (22805437)
2012

Variations for Ataxia Neuropathy Spectrum

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ataxia Neuropathy Spectrum:

64 (show all 12)
id Symbol AA change Variation ID SNP ID
1C10orf2p.Lys319GluVAR_023649
2C10orf2p.Lys319GluVAR_023649
3C10orf2p.Lys319GluVAR_023649
4POLGp.Ala467ThrVAR_012155rs113994095
5POLGp.Gln497HisVAR_023669
6POLGp.Arg627TrpVAR_023672
7POLGp.Trp748SerVAR_023673
8POLGp.His932TyrVAR_023679
9POLGp.Gly1051ArgVAR_023684
10POLGp.Gly517ValVAR_058879rs61752783
11POLGp.Arg627GlnVAR_058883
12POLGp.Arg807CysVAR_058887

Clinvar genetic disease variations for Ataxia Neuropathy Spectrum:

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 Ataxia Neuropathy Spectrum

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia Neuropathy Spectrum

Search GEO for disease gene expression data for Ataxia Neuropathy Spectrum.

Pathways for genes affiliated with Ataxia Neuropathy Spectrum

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Compounds for genes affiliated with Ataxia Neuropathy Spectrum

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GO Terms for genes affiliated with Ataxia Neuropathy Spectrum

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Sources:
16Gene Ontology
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Cellular components related to Ataxia Neuropathy Spectrum according to GeneCards/GeneDecks:

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

Biological processes related to Ataxia Neuropathy Spectrum according to GeneCards/GeneDecks:

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

Molecular functions related to Ataxia Neuropathy Spectrum according to GeneCards/GeneDecks:

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

Products for genes affiliated with Ataxia Neuropathy Spectrum

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Ataxia Neuropathy Spectrum

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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