MCID: ATX004
MIFTS: 58

Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Ataxia

About this section
Sources:
45NINDS, 66Wikipedia, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NINDS:45 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 ataxia telangiectasia. 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:66 Ataxia (from Greek ?- [a negative prefix] + -????? [order] = \"lack of order\") is a neurological sign... more...

Aliases & Classifications for Ataxia

About this section
Sources:
45NINDS
See all sources

Classifications:

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


Aliases & Descriptions:

ataxia 45


Related Diseases for Ataxia

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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 970)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.8SPTBN2, C10orf2, ATXN1, ATXN10, ATXN3, ATXN2
2ataxia telangiectasia31.8TRIM29, SETX, APTX, ATM, ATR
3friedreich ataxia31.5SACS, FXN, SETX, APTX, TTPA, ATXN1
4cerebellar ataxia31.5ATXN7, ATXN2, ATM, TTPA, TTBK2, APTX
5spinocerebellar ataxia type 331.2ATXN3
6hereditary ataxia31.2FXN, ATXN2, ATXN7, ATXN3, ATXN1
7spinocerebellar ataxia type 731.1ATXN2, ATXN7
8apraxia31.1ATCAY, TTPA, APTX, SETX
9olivopontocerebellar atrophy31.0ATXN3, ATXN1
10neuropathy31.0C10orf2, KCNA1, SETX, SACS
11infantile onset spinocerebellar ataxia31.0SACS, ATCAY
12spinocerebellar ataxia type 1730.9ATXN1, ATXN3, ATXN7, ATXN2
13ataxia with vitamin e deficiency30.9TTPA, APTX, SETX, FXN
14nijmegen breakage syndrome30.7ATM, ATR
15spinocerebellar degeneration30.6ATXN1, ATXN3, ATXN2
16spinocerebellar ataxia type 1230.6ATXN1, ATXN3, ATXN7, ATXN2
17multiple system atrophy30.6ATXN3, ATXN1
18huntington's disease30.5ATXN7, ATXN3, ATXN1
19cerebellar degeneration30.4ATM, ATXN2
20dentatorubral-pallidoluysian atrophy30.4ATXN1, ATXN3, ATXN7, ATXN2
21kearns-sayre syndrome30.2ATXN7
22dysphagia30.0ATXN1, ATXN3
23mitochondrial disorders29.8FXN, C10orf2
24seckel syndrome29.7ATR, ATM
25episodic ataxia10.8
26tremor10.8
27spinocerebellar ataxia type 610.7
28fragile x-associated tremor/ataxia syndrome10.7
29spasticity10.7
30episodic ataxia type 210.6
31machado-joseph disease10.6
32neuronitis10.6
33spinocerebellar ataxia type 1010.5
34myoclonus10.5
35arsacs10.5
36early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.5
37episodic ataxia type 110.5
38mental retardation10.5
39dystonia10.5
40retinitis10.5
41spinocerebellar ataxia type 1410.5
42spinocerebellar ataxia type 810.4
43breast cancer10.4
44ophthalmoplegia10.4
45dementia10.4
46spinocerebellar ataxia type 1510.4
47spinocerebellar ataxia type 1310.4
48harding ataxia10.4
49migraine10.3
50episodic ataxia with nystagmus10.3

Graphical network of the top 20 diseases related to Ataxia:



Diseases related to ataxia

Symptoms for Ataxia

About this section

Drugs & Therapeutics for Ataxia

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Ataxia

Drug clinical trials:

Search ClinicalTrials for Ataxia

Search NIH Clinical Center for Ataxia

Search CenterWatch for Ataxia

Genetic Tests for Ataxia

About this section

Anatomical Context for Ataxia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Ataxia:

34
Brain, Cerebellum, Testes, Breast, T cells, Lung, Eye, Skin, B cells, Heart, Colon, Thyroid, Spinal cord, Skeletal muscle, Liver, Endothelial, Ovary, Cortex, Retina, Pituitary, Myeloid, Bone, Parietal lobe, Globus pallidus, Dorsal root ganglion, Temporal lobe, Tongue, Cardiac myocytes, Hypothalamus, Kidney, Testis, Prostate, Adrenal gland, Pancreas, Whole blood, Thymus, Medulla oblongata

Animal Models for Ataxia or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Ataxia:

38
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

About this section
Sources:
53PubMed
See all sources

Articles related to Ataxia:

(show top 50)    (show all 3714)
idTitleAuthorsYear
1
Cerebello-cerebral connectivity deficits in Friedreich ataxia. (23563750)
2013
2
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. (23349320)
2013
3
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
4
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. (22459047)
2012
5
Ataxia telangiectasia: learning from previous mistakes. (23242084)
2012
6
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. (21997342)
2012
7
Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease. (22109901)
2012
8
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. (22441213)
2012
9
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. (22006793)
2012
10
Exonic deletions of FXN and early-onset Friedreich ataxia. (22409940)
2012
11
Ataxia resulting from posterior fossa tumors of childhood and other mass lesions. (21827887)
2012
12
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
13
Cerebellar ataxia: pathophysiology and rehabilitation. (21321055)
2011
14
Mutations in PEX10 are a cause of autosomal recessive ataxia. (20695019)
2010
15
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. (20712895)
2010
16
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (20410144)
2010
17
Update on the management of the immunodeficiency in ataxia-telangiectasia. (20477642)
2009
18
Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains. (19861499)
2009
19
Clinical spectrum of ataxia-telangiectasia in adulthood. (19535770)
2009
20
Glycine transporter blockade ameliorates motor ataxia in a mouse model of spinocerebellar atrophy. (19270429)
2009
21
The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice. (18602413)
2008
22
Acute cerebellar ataxia associated with primary human herpesvirus-6 infection: a report of two cases. (19012639)
2008
23
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. (18080849)
2008
24
Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population. (18262566)
2008
25
Transcranial sonography in spinocerebellar ataxia type 2. (18458857)
2008
26
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (17562928)
2007
27
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
28
Comparison of ataxia-telangiectasia mutated protein expression in diffuse large B-cell lymphomas of primary central nervous system and non-central nervous system origin. (17516749)
2007
29
Mutation and genomic deletion status of ataxia telangiectasia mutated (ATM) and p53 confer specific gene expression profiles in mantle cell lymphoma. (16461462)
2006
30
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. (16961073)
2006
31
Recruitment of ataxia-telangiectasia mutated to the p21(waf1) promoter by ZBP-89 plays a role in mucosal protection. (16952553)
2006
32
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. (16189624)
2005
33
The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. (16043940)
2005
34
Molecular basis of ataxia telangiectasia and related diseases. (16038621)
2005
35
Increased cerebellar PET glucose metabolism corresponds to ataxia in Wernicke-Korsakoff syndrome. (14998834)
2004
36
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
37
Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. (12393664)
2002
38
Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease. (11952922)
2002
39
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
40
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. (11248459)
2001
41
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. (11198281)
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

About this section

Expression for genes affiliated with Ataxia

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 54QIAGEN, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 5Cell Signaling Technology
See all sources

Compounds for genes affiliated with Ataxia

About this section
Sources:
62Tocris Bioscience, 46Novoseek, 30IUPHAR, 3BitterDB, 52PharmGKB, 25HMDB, 12DrugBank
See all sources

Compounds related to Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ku 559336210.3ATM, ATR
2ku 600196210.2ATM, ATR
3aphidicolin4610.2ATM, ATR
4vitamin-e4610.0TTPA, APTX, SETX, FXN
5alpha tocopherol4610.0TTPA, APTX, SETX, FXN
6glutamine469.9TTPA, ATM, ATXN2, ATXN7, ATXN3, ATXN1
7polyacrylamide469.9ATXN3, ATXN7, ATXN2, ATM
8caffeine46 30 3 52 25 1214.8ITPR1, ATM, ATR

GO Terms for genes affiliated with Ataxia

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:0304259.9ATCAY, ATXN10, KCNA1, SACS
2nuclear matrixGO:0163639.8ATXN7, ATXN3, ATXN1
3nucleolusGO:0057309.6ATXN7, ATXN2, APTX, SETX, ITPR1, ATXN1
4nucleoplasmGO:0056549.6ATR, ATXN1, ATXN3, ATM, APTX, SETX
5cytoplasmGO:0057378.9TRIM29, ATCAY, ATXN1, ATXN10, ATXN3, 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:04356910.4ATXN7, ATXN1
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, ATM, TTBK2
6double-strand break repairGO:00630210.2SETX, APTX, ATM
7negative regulation of multicellular organism growthGO:04001510.1ATXN2, FXN
8cellular response to DNA damage stimulusGO:00697410.1APTX, ATM, ATR
9negative regulation of phosphorylationGO:0423269.9ATXN7, ATXN1
10cell deathGO:0082198.9SACS, SPTBN2, C10orf2, ATXN1, ATXN10, ATXN3

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ataxia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet