MCID: ATX010
MIFTS: 29

Ataxia Neuropathy Spectrum malady

Genetic diseases, Neuronal diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Rare diseases categories

Aliases & Classifications for Ataxia Neuropathy Spectrum

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Ataxia Neuropathy Spectrum, Aliases & Descriptions:

Name: Ataxia Neuropathy Spectrum 21 60
Alopecia - Progressive Neurological Defect - Endocrinopathy 47
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 60
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 60
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 21
 
Mitochondrial Recessive Ataxia Syndrome 21
Ane Syndrome 47
Sando 21
Miras 21
Ans 21


Classifications:



Characteristics (Orphanet epidemiological data):

47

External Ids:

Orphanet47 157954

Summaries for Ataxia Neuropathy Spectrum

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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 based summary: Ataxia Neuropathy Spectrum, also known as alopecia - progressive neurological defect - endocrinopathy, is related to spinocerebellar ataxia and chronic progressive external ophthalmoplegia. An important gene associated with Ataxia Neuropathy Spectrum is RBM28 (RNA binding motif protein 28). Affiliated tissues include brain and skin.

Related Diseases for Ataxia Neuropathy Spectrum

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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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Drugs & Therapeutics for Ataxia Neuropathy Spectrum

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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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MalaCards organs/tissues related to Ataxia Neuropathy Spectrum:

31
Brain, Skin

Animal Models for Ataxia Neuropathy Spectrum or affiliated genes

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Publications for Ataxia Neuropathy Spectrum

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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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Clinvar genetic disease variations for Ataxia Neuropathy Spectrum:

6
id Gene Variation 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
7RBM28NM_018077.2(RBM28): c.1052T> C (p.Leu351Pro)single nucleotide variantPathogenicrs118204055GRCh37Chr 7, 127970949: 127970949

Expression for genes affiliated with Ataxia Neuropathy Spectrum

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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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Cellular components related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.1POLG, C10orf2

Biological processes related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.1POLG, C10orf2
2mitochondrial DNA replicationGO:00062648.8POLG, C10orf2

Molecular functions related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.1POLG, C10orf2

Products for genes affiliated with Ataxia Neuropathy Spectrum

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ataxia Neuropathy Spectrum

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet