ANS
MCID: ATX010
MIFTS: 41

Ataxia Neuropathy Spectrum (ANS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Ataxia Neuropathy Spectrum

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48OMIM, 34MalaCards
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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:48 607459

Aliases & Classifications for Ataxia Neuropathy Spectrum

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Sources:
63UMLS, 22Genetics Home Reference, 50Orphanet, 48OMIM, 37MESH via Orphanet, 64UMLS via Orphanet, 27ICD10 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):

50
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 22
mitochondrial recessive ataxia syndrome 22 48
spinocerebellar ataxia with epilepsy 50 63
miras 22 50
sando 22 50
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 63
sensory ataxic neuropathy - dysarthria - ophthalmoparesis 50
sensory ataxia neuropathy dysarthria and ophthalmoplegia 22
mitochondrial spinocerebellar ataxia with epilepsy 50
recessive mitochondrial ataxia syndrome 50
mscae 50
scae 50
ans 22


External Ids:

OMIM48 607459
MESH via Orphanet37 C537583
UMLS via Orphanet64 C1843851
ICD10 via Orphanet27 G71.3, G11.8

Related Diseases for Ataxia Neuropathy Spectrum

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18GeneCards, 19GeneDecks
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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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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ataxia Neuropathy Spectrum

Search CenterWatch for Ataxia Neuropathy Spectrum

Genetic Tests for Ataxia Neuropathy Spectrum

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Anatomical Context for Ataxia Neuropathy Spectrum

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34MalaCards
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MalaCards organs/tissues related to Ataxia Neuropathy Spectrum:

34
Skeletal muscle

Animal Models for Ataxia Neuropathy Spectrum or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Ataxia Neuropathy Spectrum:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1POLG, C10orf2

Publications for Ataxia Neuropathy Spectrum

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53PubMed
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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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ataxia Neuropathy Spectrum:

65 (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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia Neuropathy Spectrum

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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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17Gene 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
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Sources for Ataxia Neuropathy Spectrum

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet