MCID: ATX004
MIFTS: 50

Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Ataxia

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Ataxia, Aliases & Descriptions:

Name: Ataxia 42 22


Classifications:

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


Summaries for Ataxia

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NINDS:42 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 55933 and ku 60019 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:63 Ataxia (from Greek ?- [a negative prefix] + -????? [order] = \"lack of order\") is a neurological sign... more...

Related Diseases for Ataxia

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Diseases in the Ataxia family:

Hereditary Ataxia

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

(show top 50)    (show all 1092)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia-telangiectasia32.1TRIM29, SETX, APTX, ATM, ATR
2spinocerebellar ataxia32.0SPTBN2, C10orf2, ATXN1, ATXN10, ATXN3, ATXN2
3machado-joseph disease31.8ATXN3
4friedreich ataxia31.7SACS, FXN, SETX, APTX, TTPA, ATXN1
5hereditary ataxia31.6FXN, ATXN2, ATXN7, ATXN3, ATXN1
6spinocerebellar ataxia 231.5ATXN2, ATXN3
7apraxia31.4ATCAY, TTPA, APTX, SETX
8spinocerebellar ataxia 731.4ATXN2, ATXN7
9mitochondrial dna depletion syndrome 731.4SACS, ATCAY
10ophthalmoplegia31.4ATXN7
11spinocerebellar ataxia 131.3ATXN3, ATXN1
12ataxia with vitamin e deficiency31.3TTPA, APTX, SETX, FXN
13neuropathy31.3C10orf2, KCNA1, SETX, SACS
14spinocerebellar ataxia 1731.2ATXN1, ATXN3, ATXN7, ATXN2
15cerebellar ataxia31.1ATXN7, ATXN2, ATM, TTPA, TTBK2, APTX
16spinocerebellar degeneration31.1ATXN1, ATXN3, ATXN2
17spinocerebellar ataxia 1231.1ATXN1, ATXN3, ATXN7, ATXN2
18nijmegen breakage syndrome31.0ATM, ATR
19multiple system atrophy31.0ATXN3, ATXN1
20cerebellar degeneration30.9ATM, ATXN2
21dentatorubro-pallidoluysian atrophy30.6ATXN1, ATXN3, ATXN7, ATXN2
22huntington disease30.5ATXN7, ATXN3, ATXN1
23dysphagia30.5ATXN1, ATXN3
24seckel syndrome30.1ATR, ATM
25mitochondrial disorders30.0FXN, C10orf2
26episodic ataxia10.8
27tremor10.8
28fragile x-associated tremor/ataxia syndrome10.7
29episodic ataxia, type 210.7
30spasticity10.7
31neuronitis10.6
32myoclonus10.5
33ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.5
34arsacs10.5
35spinocerebellar ataxia 610.5
36dystonia10.5
37retinitis10.5
38mental retardation10.5
39spinocerebellar ataxia, autosomal recessive 810.5
40ataxia-ocular apraxia-210.5
41spinocerebellar ataxia 3610.4
42breast cancer10.4
43spinocerebellar ataxia 1310.4
44dementia10.4
45harding ataxia10.4
46migraine10.4
47ataxia-telangiectasia-like disorder10.4
48x-linked sideroblastic anemia with ataxia10.4
49spinocerebellar ataxia, autosomal recessive 710.4
50ataxia, posterior column, with retinitis pigmentosa10.4

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:

Search ClinicalTrials for Ataxia

Search NIH Clinical Center for Ataxia

Genetic Tests for Ataxia

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Genetic tests related to Ataxia:

id Genetic test Affiliating Genes
1 Ataxia22

Anatomical Context for Ataxia

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MalaCards organs/tissues related to Ataxia:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.7ATCAY, ATXN7, ATXN2, ATM, TTPA, ATR
2MP:00053699.5ATCAY, ATXN1, ATXN7, KCNA1, TTPA, ITPR1
3MP:00053809.5C10orf2, ATR, ATM, TTPA, TTBK2, FXN
4MP:00053789.1SPTBN2, ATR, ATCAY, ATXN1, ATXN7, ATXN2
5MP:00053769.1ATR, ATCAY, ATXN1, ATXN2, KCNA1, TTPA
6MP:00053869.0ATXN3, ATXN1, ATCAY, ATR, SPTBN2, ATXN7
7MP:00107689.0ATXN1, ATCAY, ATR, C10orf2, ATXN7, ATXN2
8MP:00036318.9FXN, SPTBN2, ATR, ATCAY, ATXN1, ATXN3

Publications for Ataxia

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Articles related to Ataxia:

(show top 50)    (show all 3989)
idTitleAuthorsYear
1
Treatable causes of cerebellar ataxia. (25757427)
2015
2
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. (25042086)
2014
3
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. (24719489)
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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Search GEO for disease gene expression data for Ataxia.

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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ku 559335910.3ATM, ATR
2ku 600195910.2ATM, ATR
3aphidicolin4310.2ATM, ATR
4vitamin-e4310.0TTPA, APTX, SETX, FXN
5alpha tocopherol4310.0TTPA, APTX, SETX, FXN
6glutamine439.9TTPA, ATM, ATXN2, ATXN7, ATXN3, ATXN1
7polyacrylamide439.9ATXN3, ATXN7, ATXN2, ATM
8caffeine43 28 2 49 24 1214.8ITPR1, ATM, ATR

GO Terms for genes affiliated with Ataxia

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

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:00304259.9ATCAY, ATXN10, KCNA1, SACS
2nuclear matrixGO:00163639.8ATXN7, ATXN3, ATXN1
3nucleolusGO:00057309.6ATXN7, ATXN2, APTX, SETX, ITPR1, ATXN1
4nucleoplasmGO:00056549.6ATR, ATXN1, ATXN3, ATM, APTX, SETX
5cytoplasmGO:00057378.9TRIM29, ATCAY, ATXN1, ATXN10, ATXN3, ATXN7

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:004356910.4ATXN7, ATXN1
2replicative senescenceGO:009039910.3ATM, ATR
3positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.3ATM, ATR
4cellular response to gamma radiationGO:007148010.2ATR, ATM
5peptidyl-serine phosphorylationGO:001810510.2ATR, ATM, TTBK2
6double-strand break repairGO:000630210.2SETX, APTX, ATM
7negative regulation of multicellular organism growthGO:004001510.1ATXN2, FXN
8cellular response to DNA damage stimulusGO:000697410.1APTX, ATM, ATR
9negative regulation of phosphorylationGO:00423269.9ATXN7, ATXN1
10cell deathGO:00082198.9SACS, SPTBN2, C10orf2, ATXN1, ATXN10, ATXN3

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

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055249.5ATR, ATM, TTBK2, SETX, SACS, C10orf2
2protein bindingGO:00055158.2TRIM29, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet