MCID: C10001

C10orf2-Related Ataxia Neuropathy Spectrum Disorders malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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33MalaCards
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MalaCards: C10orf2-Related Ataxia Neuropathy Spectrum Disorders, is also known as sensory ataxic neuropathy, dysarthria, and ophthalmoparesis An important gene associated with C10orf2-Related Ataxia Neuropathy Spectrum Disorders is C10orf2 (chromosome 10 open reading frame 2).

Aliases & Classifications for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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20GeneTests, 62UMLS
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Classifications:

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


Aliases & Descriptions:

c10orf2-related ataxia neuropathy spectrum disorders 20
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 62


Related Diseases for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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Diseases in the Ataxia Neuropathy Spectrum family:

Hereditary Ataxia c10orf2-related ataxia neuropathy spectrum disorders
Polg-Related Ataxia Neuropathy Spectrum Disorders Ataxia

Symptoms for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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Drugs & Therapeutics for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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

Search ClinicalTrials for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

Search NIH Clinical Center for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

Genetic Tests for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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20GeneTests
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Genetic tests related to C10orf2-Related Ataxia Neuropathy Spectrum Disorders:

id Genetic test Affiliating Genes
1 C10orf2-Related Ataxia Neuropathy Spectrum Disorders20 C10orf2

Anatomical Context for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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Animal Models for C10orf2-Related Ataxia Neuropathy Spectrum Disorders or affiliated genes

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Publications for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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Variations for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for C10orf2-Related Ataxia Neuropathy Spectrum Disorders:

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 C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with C10orf2-Related Ataxia Neuropathy Spectrum Disorders

Search GEO for disease gene expression data for C10orf2-Related Ataxia Neuropathy Spectrum Disorders.

Pathways for genes affiliated with C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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Compounds for genes affiliated with C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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GO Terms for genes affiliated with C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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Products for genes affiliated with C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for C10orf2-Related Ataxia Neuropathy Spectrum Disorders

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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