MCID: ATX004
MIFTS: 53

Ataxia malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Ataxia

Aliases & Descriptions for Ataxia:

Name: Ataxia 51 29 29

Classifications:



Summaries for Ataxia

NINDS : 51 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 spinocerebellar ataxia 29, congenital nonprogressive and spinocerebellar ataxia type 16. An important gene associated with Ataxia is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6), and among its related pathways/superpathways are Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics and DNA Damage Induced 14-3-3Sigma Signaling. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and testes, and related phenotypes are Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor and behavior/neurological

Wikipedia : 71 Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that... more...

Related Diseases for Ataxia

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 981)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 29, congenital nonprogressive 33.3 ITPR1 SPTBN2
2 spinocerebellar ataxia type 16 32.9 ATM FXN SETX
3 dandy-walker syndrome 31.0 ATM ATR
4 friedreich ataxia 12.3
5 ataxia-telangiectasia 12.3
6 spinocerebellar ataxia 2 12.2
7 episodic ataxia, type 2 12.2
8 spinocerebellar ataxia 1 12.2
9 spinocerebellar ataxia 7 12.2
10 spinocerebellar ataxia 6 12.2
11 ataxia-telangiectasia-like disorder 12.2
12 episodic ataxia/myokymia syndrome 12.2
13 spinocerebellar ataxia 13 12.2
14 spinocerebellar ataxia 36 12.2
15 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.1
16 spinocerebellar ataxia 8 12.1
17 spinocerebellar ataxia 20 12.1
18 spinocerebellar ataxia 21 12.1
19 spinocerebellar ataxia 31 12.1
20 spinocerebellar ataxia 10 12.1
21 spinocerebellar ataxia 17 12.1
22 spinocerebellar ataxia 28 12.1
23 episodic ataxia 12.1
24 spinocerebellar ataxia 27 12.1
25 mitochondrial recessive ataxia syndrome 12.1
26 spinocerebellar ataxia 23 12.1
27 cerebellar ataxia and hypogonadotropic hypogonadism 12.1
28 spinocerebellar ataxia 14 12.1
29 spinocerebellar ataxia 12 12.1
30 autosomal dominant cerebellar ataxia 12.1
31 ataxia with vitamin e deficiency 12.1
32 spinocerebellar ataxia 38 12.1
33 spinocerebellar ataxia, autosomal recessive 8 12.1
34 spinocerebellar ataxia 35 12.1
35 spinocerebellar ataxia 15 12.1
36 spinocerebellar ataxia, autosomal recessive 1 12.0
37 spinocerebellar ataxia 5 12.0
38 ataxia with isolated vitamin e deficiency 12.0
39 cerebellar ataxia 12.0
40 episodic ataxia, type 6 12.0
41 spinocerebellar ataxia 34 12.0
42 spinocerebellar ataxia, autosomal recessive 7 12.0
43 spastic ataxia, charlevoix-saguenay type 12.0
44 ataxia, spastic, 4 12.0
45 spinocerebellar ataxia 11 12.0
46 fragile x-associated tremor/ataxia syndrome 12.0
47 ataxia, cerebellar, cayman type 12.0
48 spinocerebellar ataxia, x-linked 1 12.0
49 spinocerebellar ataxia, autosomal recessive 13 12.0
50 ataxia, posterior column, with retinitis pigmentosa 12.0

Graphical network of the top 20 diseases related to Ataxia:



Diseases related to Ataxia

Symptoms & Phenotypes for Ataxia

GenomeRNAi Phenotypes related to Ataxia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 8.62 ATM ATR

MGI Mouse Phenotypes related to Ataxia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 NPC1 ATM SETX ATR SPTBN2 ATXN1
2 homeostasis/metabolism MP:0005376 10.03 NPC1 ATM SETX ATR SPTBN2 ATXN1
3 nervous system MP:0003631 9.7 ATCAY NPC1 ATM ATR SPTBN2 ATXN1
4 reproductive system MP:0005389 9.28 NPC1 ATM SETX ATR TTPA ELOVL5

Drugs & Therapeutics for Ataxia

Drugs for Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 283)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
3
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
4
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
5
Phenylephrine Approved Phase 4 59-42-7 6041
6
Oxymetazoline Approved Phase 4 1491-59-4 4636
7
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
8
Doxepin Approved Phase 4 1668-19-5 667477 667468
9
Zolpidem Approved Phase 4 82626-48-0 5732
10
Ethanol Approved Phase 4,Phase 3 64-17-5 702
11
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
12
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
13
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
14
Acetylcholine Approved Phase 4 51-84-3 187
15
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
16
Citalopram Approved Phase 4 59729-33-8 2771
17
Sulfadiazine Approved, Vet_approved Phase 4 68-35-9 5215
18
Sulfamethoxazole Approved Phase 4 723-46-6 5329
19
Chlordiazepoxide Approved, Illicit Phase 4 58-25-3 2712
20
Amantadine Approved Phase 4 768-94-5 2130
21
Pyrimethamine Approved, Vet_approved Phase 4 58-14-0 4993
22
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
23
Metformin Approved Phase 4 657-24-9 14219 4091
24
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
26 insulin Phase 4
27 Estradiol valerate Phase 4 979-32-8
28
Histamine Phosphate Phase 4 51-74-1 65513
29 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
30 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Mitogens Phase 4
32 Adrenergic Agents Phase 4
33 GABA Agents Phase 4,Phase 3
34 GABA Agonists Phase 4
35 Adrenergic Agonists Phase 4
36 GABA-A Receptor Agonists Phase 4
37 Adrenergic alpha-2 Receptor Agonists Phase 4
38 Adrenergic alpha-Agonists Phase 4
39 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
40 Contraceptive Agents Phase 4
41 Sympatholytics Phase 4
42 Histamine Antagonists Phase 4
43 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
44 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1
45 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
47 Hypnotics and Sedatives Phase 4
48 Estradiol 17 beta-cypionate Phase 4
49 Estradiol 3-benzoate Phase 4
50 Estrogens Phase 4

Interventional clinical trials:

(show top 50) (show all 223)
id Name Status NCT ID Phase
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
2 Assess the Effect of a Single Dose of Zolpidem, Silenor & Placebo on Arousability, Ataxia/Balance & Cognitive Performance in Healthy Volunteers Unknown status NCT02353299 Phase 4
3 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4
4 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
5 Gabapentin vs Chlordiazepoxide for Ambulatory Alcohol Withdrawal Completed NCT01573052 Phase 4
6 Treatment of Cerebral Toxoplasmosis in HIV/AIDS Completed NCT00367081 Phase 4
7 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4
8 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4
9 Robot Assisted Gait Training in Patients With Infratentorial Stroke Recruiting NCT02680691 Phase 4
10 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Active, not recruiting NCT01284127 Phase 4
11 Blinded, Randomized Study of Gabapentin (Neurontin®) and Gabapentin Enacarbil (Horizant™) in Restless Leg Syndrome Terminated NCT02117076 Phase 4
12 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
13 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3
14 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3
15 Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3
16 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3
17 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3
18 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3
19 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3
20 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
21 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3
22 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3
23 STEADFAST Long-Term Safety Extension Completed NCT02797080 Phase 3
24 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3
25 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3
26 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3
27 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3
28 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3
29 A Clinical Trial for Inactivated Japanese Encephalitis Vaccine in Healthy Chinese Infants Completed NCT02367664 Phase 3
30 Postoperative Pain and Morphine Consumption After Mastectomy - Lyrica Completed NCT01391858 Phase 3
31 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3
32 Oral HYCAMTIN Plus Whole Brain Radiation Therapy In Treatment Of Brain Metastases Resulting From Non-Small Lung Cancer Completed NCT00390806 Phase 3
33 Trial in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT02960893 Phase 2, Phase 3
34 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
35 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Recruiting NCT02333305 Phase 3
36 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Recruiting NCT02918760 Phase 3
37 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Recruiting NCT02889302 Phase 3
38 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3
39 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2
40 Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia Unknown status NCT01958177 Phase 1, Phase 2
41 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
42 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
43 Citocoline for Treatment of FXTAS Unknown status NCT02197104 Phase 2
44 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Unknown status NCT02039206 Phase 2
45 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2
46 A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's Disease Unknown status NCT01539837 Phase 2
47 Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years Unknown status NCT01834664 Phase 1, Phase 2
48 Improving Hand Use in Multiple Sclerosis Unknown status NCT01081275 Phase 2
49 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2
50 A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2

Search NIH Clinical Center for Ataxia

Genetic Tests for Ataxia

Genetic tests related to Ataxia:

id Genetic test Affiliating Genes
1 Ataxia 29

Anatomical Context for Ataxia

MalaCards organs/tissues related to Ataxia:

39
Brain, Cerebellum, Testes, Breast, T Cells, Lung, Eye

Publications for Ataxia

Articles related to Ataxia:

(show top 50) (show all 4649)
id Title Authors Year
1
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. ( 28402445 )
2017
2
Dysphagia in Friedreich Ataxia. ( 28474131 )
2017
3
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. ( 28017198 )
2017
4
Cerebellar ataxia associated with anti-glutamic acid decarboxylase (anti-GAD) autoantibodies: a rare and puzzling disease. ( 28355318 )
2017
5
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. ( 28192817 )
2017
6
Spinal anaesthesia for a caesarean section in a patient with paraneoplastic cerebellar ataxia. ( 28515524 )
2017
7
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. ( 28017373 )
2017
8
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
9
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
10
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. ( 27913285 )
2017
11
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. ( 28423040 )
2017
12
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
13
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. ( 28162005 )
2017
14
Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia. ( 28024081 )
2017
15
Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. ( 27814974 )
2017
16
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). ( 28131712 )
2017
17
Low-Titre GAD Antibody-Associated Late-Onset Cerebellar Ataxia with a Significant Clinical Response to Intravenous Immunoglobulin Treatment. ( 28321713 )
2017
18
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. ( 28123174 )
2017
19
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
20
Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma. ( 28074147 )
2017
21
Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia. ( 28082326 )
2017
22
Preventive motor training but not progenitor grafting ameliorates cerebellar ataxia and deregulated autophagy in tambaleante mice. ( 28237314 )
2017
23
Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. ( 28319124 )
2017
24
Friedreich Ataxia: current status and future prospects. ( 28405347 )
2017
25
Cardiac transplantation in Friedreich Ataxia: Extended follow-up. ( 28109580 )
2017
26
Erratum to: The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. ( 28081717 )
2017
27
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
28
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia. ( 28228265 )
2017
29
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. ( 28444220 )
2017
30
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. ( 28120234 )
2017
31
Adult Onset Sporadic Cerebellar Ataxia in Singapore: Diagnostic Outcomes of Paraneoplastic Antibody Testing and Early Clinical Features of Paraneoplastic Cerebellar Degeneration. ( 28417137 )
2017
32
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
33
A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene. ( 28416787 )
2017
34
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
35
Superficial bedside brain biopsy can be a safe and practical approach to confirm a rare form of prion disease in cerebellar ataxia: A case study. ( 28320192 )
2017
36
Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies. ( 28355320 )
2017
37
Progressive hearing loss and cerebellar ataxia in anti-Ma2-associated autoimmune encephalitis. ( 28099568 )
2017
38
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. ( 28002403 )
2017
39
Ataxia-telangiectasia: Immunodeficiency and survival. ( 28126470 )
2017
40
The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis. ( 28166646 )
2017
41
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. ( 28078310 )
2017
42
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
43
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. ( 28082406 )
2017
44
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation. ( 28003964 )
2017
45
Supporting a Youth with Cerebellar Ataxia into Adolescence. ( 28323747 )
2017
46
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial. ( 28068987 )
2017
47
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
48
Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. ( 28487983 )
2017
49
Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation. ( 28088730 )
2017
50
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels. ( 28167673 )
2017

Variations for Ataxia

ClinVar genetic disease variations for Ataxia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Pathogenic rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
2 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
3 PTRH2 NM_016077.4(PTRH2): c.254A> C (p.Gln85Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882234 GRCh38 Chromosome 17, 59697725: 59697725
4 EBF3 NM_001005463.2(EBF3): c.530C> T (p.Pro177Leu) single nucleotide variant Pathogenic rs869312668 GRCh37 Chromosome 10, 131755546: 131755546
5 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
6 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
7 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672
8 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
9 NPC1 NM_000271.4(NPC1): c.1421C> T (p.Pro474Leu) single nucleotide variant Pathogenic rs372445155 GRCh38 Chromosome 18, 23554890: 23554890
10 CACNA1A NM_001127222.1(CACNA1A): c.5015G> C (p.Arg1672Pro) single nucleotide variant Pathogenic rs1057519429 GRCh37 Chromosome 19, 13346480: 13346480

Expression for Ataxia

Search GEO for disease gene expression data for Ataxia.

Pathways for Ataxia

Pathways related to Ataxia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.32 ATM ATR
2 9.9 ATM ATR

GO Terms for Ataxia

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

id Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.26 ATCAY KCNA1 SACS SETX
2 nuclear inclusion body GO:0042405 8.62 ATXN1 ATXN3

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism growth GO:0035264 9.54 ATM FLVCR1 SPTBN2
2 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.32 ATM ATR
3 replicative senescence GO:0090399 9.26 ATM ATR
4 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.16 ATM ATR
5 establishment of RNA localization to telomere GO:0097694 8.96 ATM ATR
6 establishment of macromolecular complex localization to telomere GO:0097695 8.62 ATM ATR

Sources for Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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