MCID: ATX004
MIFTS: 59

Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Ataxia

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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 based summary: Ataxia is related to ataxia telangiectasia and spinocerebellar ataxia. An important gene associated with Ataxia is ATXN2 (ataxin 2), and among its related pathways are GADD45 Pathway and DNA damage Role of Brca1 and Brca2 in DNA repair. The compounds ku 60019 and ku 55933 have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and testes, and related mouse phenotypes are reproductive system and muscle.

Wikipedia:65 Ataxia (from Greek ?- [a negative prefix] + -????? [order] = \"lack of order\") is a neurological sign... more...

Aliases & Classifications for Ataxia

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Ataxia, Aliases & Descriptions:

Name: Ataxia 43


Classifications:



Related Diseases for Ataxia

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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

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

(show top 50)    (show all 986)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia telangiectasia32.1TRIM29, SETX, APTX, ATM, ATR
2spinocerebellar ataxia32.0SPTBN2, C10orf2, ATXN1, ATXN10, ATXN3, ATXN2
3machado-joseph disease31.8ATXN3
4spinocerebellar ataxia type 731.7ATXN2, ATXN7
5friedreich ataxia31.7SACS, FXN, SETX, APTX, TTPA, ATXN1
6hereditary ataxia31.7FXN, ATXN2, ATXN7, ATXN3, ATXN1
7infantile onset spinocerebellar ataxia31.6SACS, ATCAY
8olivopontocerebellar atrophy31.5ATXN3, ATXN1
9apraxia31.5ATCAY, TTPA, APTX, SETX
10spinocerebellar ataxia type 1731.4ATXN1, ATXN3, ATXN7, ATXN2
11ataxia with vitamin e deficiency31.3TTPA, APTX, SETX, FXN
12neuropathy31.3C10orf2, KCNA1, SETX, SACS
13spinocerebellar degeneration31.2ATXN1, ATXN3, ATXN2
14cerebellar ataxia31.1ATXN7, ATXN2, ATM, TTPA, TTBK2, APTX
15spinocerebellar ataxia type 1231.1ATXN1, ATXN3, ATXN7, ATXN2
16nijmegen breakage syndrome31.1ATM, ATR
17multiple system atrophy31.0ATXN3, ATXN1
18huntington's disease31.0ATXN7, ATXN3, ATXN1
19cerebellar degeneration30.9ATM, ATXN2
20dentatorubral-pallidoluysian atrophy30.9ATXN1, ATXN3, ATXN7, ATXN2
21kearns-sayre syndrome30.9ATXN7
22dysphagia30.5ATXN1, ATXN3
23seckel syndrome30.1ATR, ATM
24mitochondrial disorders30.0FXN, C10orf2
25episodic ataxia10.9
26tremor10.8
27spinocerebellar ataxia type 610.8
28fragile x-associated tremor/ataxia syndrome10.7
29spasticity10.7
30episodic ataxia type 210.7
31neuronitis10.6
32spinocerebellar ataxia type 1010.6
33myoclonus10.6
34arsacs10.5
35early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.5
36episodic ataxia type 110.5
37mental retardation10.5
38retinitis10.5
39dystonia10.5
40spinocerebellar ataxia type 1410.5
41spinocerebellar ataxia type 810.5
42spinocerebellar ataxia type 510.4
43ophthalmoplegia10.4
44breast cancer10.4
45dementia10.4
46ataxia neuropathy spectrum10.4
47spinocerebellar ataxia type 1510.4
48x-linked sideroblastic anemia with ataxia10.4
49migraine10.4
50spinocerebellar ataxia type 1310.4

Graphical network of the top 20 diseases related to Ataxia:



Diseases related to ataxia

Symptoms for Ataxia

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Drugs & Therapeutics for Ataxia

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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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MalaCards organs/tissues related to Ataxia:

32
Brain, Cerebellum, Testes, Breast, T cells, Lung, Eye, Skin, B cells, Heart, Thyroid, Spinal cord, Colon, Skeletal muscle, Liver, Endothelial, Cortex, Ovary, Myeloid, Pituitary, Bone, Retina, Whole blood, Thymus, Kidney, Pancreas, Adrenal gland, Prostate, Testis, Parietal lobe, Temporal lobe, Globus pallidus, Hypothalamus, Medulla oblongata, Dorsal root ganglion, Cardiac myocytes, Tongue, Neutrophil

Animal Models for Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.7ATXN2, ATXN7, ATCAY, ATR, TTPA, ATM
2MP:00053699.5FXN, ITPR1, KCNA1, ATCAY, ATXN7, TTPA
3MP:00053809.5TTBK2, TTPA, C10orf2, ATM, ATR, FXN
4MP:00053789.1SPTBN2, ATR, ATCAY, FXN, ITPR1, TTBK2
5MP:00053769.1ATR, APTX, KCNA1, ATXN2, FXN, TTPA
6MP:00053869.0ATM, ATXN2, ATXN7, ATXN3, KCNA1, TTPA
7MP:00107689.0KCNA1, ATXN1, ATR, ATCAY, ATXN7, ATXN2
8MP:00036318.9FXN, ITPR1, TTBK2, TTPA, ATXN1, KCNA1

Publications for Ataxia

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Articles related to Ataxia:

(show top 50)    (show all 3889)
idTitleAuthorsYear
1
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. (25042086)
2014
2
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. (24719489)
2014
3
Spectrum of Sleep Disorders in a Patient with Spinocerebellar Ataxia 13. (25406272)
2014
4
Cerebello-cerebral connectivity deficits in Friedreich ataxia. (23563750)
2013
5
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. (23349320)
2013
6
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
7
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. (22459047)
2012
8
Ataxia telangiectasia: learning from previous mistakes. (23242084)
2012
9
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. (21997342)
2012
10
Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease. (22109901)
2012
11
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. (22441213)
2012
12
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. (22006793)
2012
13
Exonic deletions of FXN and early-onset Friedreich ataxia. (22409940)
2012
14
Ataxia resulting from posterior fossa tumors of childhood and other mass lesions. (21827887)
2012
15
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
16
Cerebellar ataxia: pathophysiology and rehabilitation. (21321055)
2011
17
Mutations in PEX10 are a cause of autosomal recessive ataxia. (20695019)
2010
18
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. (20712895)
2010
19
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (20410144)
2010
20
Update on the management of the immunodeficiency in ataxia-telangiectasia. (20477642)
2009
21
Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains. (19861499)
2009
22
Clinical spectrum of ataxia-telangiectasia in adulthood. (19535770)
2009
23
Glycine transporter blockade ameliorates motor ataxia in a mouse model of spinocerebellar atrophy. (19270429)
2009
24
The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice. (18602413)
2008
25
Acute cerebellar ataxia associated with primary human herpesvirus-6 infection: a report of two cases. (19012639)
2008
26
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. (18080849)
2008
27
Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population. (18262566)
2008
28
Transcranial sonography in spinocerebellar ataxia type 2. (18458857)
2008
29
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (17562928)
2007
30
Ataxia-telangiectasia mutated expression is associated with tobacco smoke exposure in esophageal cancer tissues and benzo[a]pyrene diol epoxide in cell lines. (17019709)
2007
31
Mutation and genomic deletion status of ataxia telangiectasia mutated (ATM) and p53 confer specific gene expression profiles in mantle cell lymphoma. (16461462)
2006
32
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. (16961073)
2006
33
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. (16189624)
2005
34
The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. (16043940)
2005
35
Molecular basis of ataxia telangiectasia and related diseases. (16038621)
2005
36
Increased cerebellar PET glucose metabolism corresponds to ataxia in Wernicke-Korsakoff syndrome. (14998834)
2004
37
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
38
Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. (12393664)
2002
39
Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease. (11952922)
2002
40
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
41
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. (11248459)
2001
42
Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulated lymphoblasts for detection of ATM protein. (10780798)
2000
43
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats. (11121484)
2000
44
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations. (9792410)
1998
45
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. (9343108)
1997
46
Comparative genome mapping of the ataxia-telangiectasia region in mouse, rat, and Syrian hamster. (8786135)
1996
47
Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells. (8247533)
1993
48
Ataxia with Oculomotor Apraxia Type 1 (20301629)
1993
49
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. (1279391)
1992
50
Ataxia-telangiectasia in a child with vaccine-associated paralytic poliomyelitis. (1517916)
1992

Variations for Ataxia

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Expression for genes affiliated with Ataxia

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Expression patterns in normal tissues for genes affiliated with Ataxia

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Pathways for genes affiliated with Ataxia

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Compounds for genes affiliated with Ataxia

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Compounds related to Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ku 600196110.3ATM, ATR
2ku 559336110.2ATR, ATM
3aphidicolin4410.2ATM, ATR
4vitamin-e4410.0TTPA, APTX, SETX, FXN
5alpha tocopherol4410.0SETX, TTPA, APTX, FXN
6glutamine449.9TTPA, ATXN1, ATXN3, ATXN7, ATXN2, ATM
7polyacrylamide449.9ATM, ATXN2, ATXN7, ATXN3
8caffeine44 28 2 50 24 1114.8ATR, ATM, ITPR1

GO Terms for genes affiliated with Ataxia

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Cellular components related to Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:0304259.9SACS, ATCAY, KCNA1, ATXN10
2nuclear matrixGO:0163639.8ATXN7, ATXN3, ATXN1
3nucleolusGO:0057309.6ITPR1, SETX, APTX, ATXN2, ATXN7, ATXN1
4nucleoplasmGO:0056549.6SETX, APTX, ATM, ATXN3, ATXN1, ATR
5cytoplasmGO:0057378.9TGM6, SACS, TRIM29, APTX, ATXN2, ATXN7

Biological processes related to Ataxia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.4ATXN1, ATXN7
2replicative senescenceGO:09039910.3ATM, ATR
3positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.3ATM, ATR
4cellular response to gamma radiationGO:07148010.2ATR, ATM
5peptidyl-serine phosphorylationGO:01810510.2ATR, TTBK2, ATM
6double-strand break repairGO:00630210.2SETX, ATM, APTX
7negative regulation of multicellular organism growthGO:04001510.1FXN, ATXN2
8cellular response to DNA damage stimulusGO:00697410.1APTX, ATM, ATR
9negative regulation of phosphorylationGO:0423269.9ATXN1, ATXN7
10cell deathGO:0082198.9C10orf2, ATXN2, TTBK2, APTX, TGM6, SETX

Molecular functions related to Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.5ATR, ATM, TTBK2, SETX, SACS, C10orf2
2protein bindingGO:0055158.2TRIM29, ATR, ATCAY, ATXN1, ATXN10, ATXN3

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet