MCID: ATX004
MIFTS: 38

Ataxia malady

Summaries for Ataxia

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43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.

MalaCards: Ataxia is related to spinocerebellar ataxia and cerebellar ataxia. An important gene associated with Ataxia is ATXN2 (ataxin 2), and among its related pathways are Cyclins and Cell Cycle Regulation and DNA Damage Induced 14-3-3Sigma Signaling. The compounds glutamine and vitamin-e have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, and related mouse phenotypes are nervous system and behavior/neurological.

Wikipedia:63 Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = \"lack of order\"), is a neurological... more...

Aliases & Classifications for Ataxia

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43NINDS
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Aliases & Descriptions:

ataxia 43


Related Diseases for Ataxia

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17GeneCards, 18GeneDecks
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Diseases in the Ataxia Neuropathy Spectrum family:

C10orf2-Related Ataxia Neuropathy Spectrum Disorders Polg-Related Ataxia Neuropathy Spectrum Disorders
ataxia

Diseases related to Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 893)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.7KCNA1, PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN10
2cerebellar ataxia31.6SACS, APTX, PPP2R2B, ITPR1, ATCAY, ATXN2
3ataxia telangiectasia31.6APTX, ATR, ATM, TRIM29, SETX
4friedreich ataxia31.5ATXN2, ATXN3, ATXN1, TTPA, FXN, SETX
5hereditary ataxia31.1PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1, FXN
6spinocerebellar ataxia type 331.0ATXN3
7apraxia30.9APTX, ATM, TTPA, FXN, SETX
8spinocerebellar ataxia type 730.9ATXN2, ATXN7
9neuropathy30.8SETX, SACS, KCNA1
10ataxia with vitamin e deficiency30.8SETX, FXN, TTPA, APTX
11olivopontocerebellar atrophy30.8ATXN1, ATXN3
12infantile onset spinocerebellar ataxia30.7SACS, ATCAY
13spinocerebellar ataxia type 1730.7PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
14spinocerebellar degeneration30.6ATXN2, ATXN3, ATXN1
15ophthalmoplegia30.5ATXN7
16spinocerebellar ataxia type 1230.4PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
17multiple system atrophy30.4ATXN3, ATXN1
18peripheral neuropathy30.4APTX
19huntington's disease30.3ATXN7, ATXN3, ATXN1
20dentatorubral-pallidoluysian atrophy30.2PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
21axonal neuropathy30.2ATCAY
22episodic ataxia10.8
23spinocerebellar ataxia type 610.7
24fragile x syndrome10.7
25episodic ataxia type 210.6
26machado-joseph disease10.5
27neuronitis10.5
28spinocerebellar ataxia type 1010.5
29cerebellar disease10.5
30arsacs10.5
31episodic ataxia type 110.5
32early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.5
33spinocerebellar ataxia type 1410.4
34retinitis10.4
35spinocerebellar ataxia type 810.4
36breast cancer10.4
37spinocerebellar ataxia type 1510.4
38nijmegen breakage syndrome10.3
39dementia10.3
40spinocerebellar ataxia type 1310.3
41harding ataxia10.3
42ataxia neuropathy spectrum10.3
43ataxia with oculomotor apraxia type 210.3
44x-linked sideroblastic anemia with ataxia10.3
45migraine10.3
46neuropathy ataxia retinitis pigmentosa syndrome10.3
47spinocerebellar ataxia autosomal recessive 110.3
48hypogonadism10.3
49spinocerebellar ataxia type 2010.3
50leukemia10.3

Graphical network of the top 20 diseases related to Ataxia:



Diseases related to ataxia

Clinical Features for Ataxia

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Drugs & Therapeutics for Ataxia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ataxia

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Anatomical Context for Ataxia

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32MalaCards
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MalaCards organs/tissues related to Ataxia:

32
Cerebellum

Animal Models for Ataxia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363113.0KCNA1, SPTBN2, FXN, TTPA, TTBK2, ATXN1
2MP:000538612.8SPTBN2, FXN, TTPA, ATXN1, ATXN7, KCNA1
3MP:000537812.5ATXN2, ATR, ATM, ATXN1, ATCAY, ITPR1
4MP:001076812.4ATCAY, ATR, ATXN2, ATM, ATXN7, KCNA1
5MP:000536911.5FXN, TTPA, ATXN1, ATXN7, ATCAY, ITPR1

Publications for Ataxia

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Genetic Variations for Ataxia

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Expression for genes affiliated with Ataxia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia

Search GEO for disease gene expression data for Ataxia.

Pathways for genes affiliated with Ataxia

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51QIAGEN, 53Reactome, 12EMD Millipore
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Pathways related to Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.1ATM, ATR, PPP2R2B
210.9ATM, ATR
3
Hide members
10.9ATM, ATR
410.9ATM, ATR

Compounds for genes affiliated with Ataxia

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine4411.8TTPA, ATXN1, ATXN3, ATXN7, ATM, ATXN2
2vitamin-e4411.4APTX, TTPA, FXN, SETX
3alpha tocopherol4411.3APTX, TTPA, FXN, SETX
4caffeine44 49 28 2 11 2416.1ATM, ATR, ITPR1
5polyacrylamide4410.9ATXN2, ATM, ATXN7, ATXN3
6ku 559335910.9ATM, ATR
7ku 600195910.8ATM, ATR

GO Terms for genes affiliated with Ataxia

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573712.4ATXN3, SETX, TRIM29, ATXN1, SACS, APTX
2nucleoplasmGO:00565411.3SETX, ATXN1, ATXN3, ATM, ATR, APTX
3dendriteGO:03042511.3ATXN10, KCNA1, SACS, ATCAY
4nuclear matrixGO:01636311.0ATXN7, ATXN3, ATXN1
5nuclear inclusion bodyGO:04240510.9ATXN3, ATXN1

Biological processes related to Ataxia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821912.8SACS, ATXN1, TTBK2, SETX, SPTBN2, TGM6
2double-strand break repairGO:00630211.3SETX, APTX, ATM
3peptidyl-serine phosphorylationGO:01810511.2ATR, TTBK2, ATM
4response to DNA damage stimulusGO:00697411.1ATM, ATR, APTX
5negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356911.0ATXN7, ATXN1
6replicative senescenceGO:09039911.0ATM, ATR
7negative regulation of multicellular organism growthGO:04001510.9FXN, ATXN2
8positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.9ATM, ATR
9cellular response to gamma radiationGO:07148010.8ATR, ATM
10negative regulation of phosphorylationGO:04232610.6ATXN7, ATXN1

Molecular functions related to Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551513.4FXN, APTX, PPP2R2B, ITPR1, ATCAY, ATR

Products for genes affiliated with Ataxia

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Sources for Ataxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet