ARCA
MCID: ATS307
MIFTS: 42

Autosomal Recessive Cerebellar Ataxia (ARCA)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Recessive Cerebellar Ataxia:

Name: Autosomal Recessive Cerebellar Ataxia 12 58 6 15
Arca 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebellar ataxia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Portugal),1-9/100000 (Worldwide),1-9/100000 (France),1-9/100000 (Norway),1-9/100000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050950
Orphanet 58 ORPHA1172

Summaries for Autosomal Recessive Cerebellar Ataxia

Disease Ontology : 12 A cerebellar ataxia that has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Cerebellar Ataxia, also known as arca, is related to spinocerebellar ataxia, autosomal recessive 8 and spinocerebellar ataxia, autosomal recessive 14. An important gene associated with Autosomal Recessive Cerebellar Ataxia is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and colon.

Related Diseases for Autosomal Recessive Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47 Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43 Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9 Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

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

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 34.6 SYNE1 SPTBN2 SETX COQ8A
2 spinocerebellar ataxia, autosomal recessive 14 34.1 SYNE1 SPTBN2 SPG7 COQ8A
3 spinocerebellar ataxia, autosomal recessive 4 34.1 ZNF592 VPS13D
4 spinocerebellar ataxia, autosomal recessive 23 34.0 TDP1 CWF19L1
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.7 TDP1 SPTBN2 SETX COQ8A
6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 33.3 SETX ANO10 AFP
7 ataxia-oculomotor apraxia 3 32.8 TDP1 SETX
8 boucher-neuhauser syndrome 32.7 SNX14 GRID2
9 peripheral nervous system disease 31.3 TWNK TDP1 SETX H2AC18
10 hereditary ataxia 31.3 VPS13D TWNK TDP1 SPTBN2 SPG7 SNX14
11 axonal neuropathy 31.3 TWNK TDP1 SETX
12 autosomal dominant cerebellar ataxia 31.1 TWNK TDP1 STUB1 SPTBN2 SPG7 SETX
13 3-methylglutaconic aciduria, type iii 31.1 TWNK SPG7 SNX14 PMPCA
14 spastic paraplegia 7, autosomal recessive 31.0 SPG7 COQ8A ANO10
15 spastic paraplegia 46, autosomal recessive 30.8 SPG7 GBA2
16 hereditary spastic paraplegia 30.7 SPG7 SETX GRID2 GBA2
17 autosomal recessive cerebellar ataxia with late-onset spasticity 12.4
18 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.4
19 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 12.4
20 autosomal recessive cerebellar ataxia due to a dna repair defect 12.4
21 spinocerebellar ataxia, autosomal recessive 16 12.1
22 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.1
23 spinocerebellar ataxia, autosomal recessive 10 12.1
24 spinocerebellar ataxia, autosomal recessive 12 12.1
25 spinocerebellar ataxia, autosomal recessive 17 12.1
26 spinocerebellar ataxia, autosomal recessive 3 12.0
27 spinocerebellar ataxia, autosomal recessive 11 11.9
28 spinocerebellar ataxia, autosomal recessive 15 11.9
29 coenzyme q10 deficiency, primary, 4 11.6
30 ataxia-telangiectasia 11.6
31 spastic ataxia, charlevoix-saguenay type 11.5
32 spinocerebellar ataxia, autosomal recessive 2 11.5
33 marinesco-sjogren syndrome 11.5
34 spinocerebellar ataxia, autosomal recessive 20 11.5
35 spinocerebellar ataxia, autosomal recessive 24 11.5
36 cerebellar ataxia, cayman type 11.2
37 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 11.2
38 spinocerebellar ataxia, autosomal recessive 6 11.2
39 spinocerebellar ataxia, autosomal recessive 7 11.2
40 spinocerebellar ataxia, autosomal recessive 13 11.2
41 spinocerebellar ataxia, autosomal recessive 18 11.2
42 lichtenstein-knorr syndrome 11.2
43 spinocerebellar ataxia, autosomal recessive 21 11.2
44 spinocerebellar ataxia, autosomal recessive 22 11.2
45 spinocerebellar ataxia, autosomal recessive 25 11.2
46 spinocerebellar ataxia, autosomal recessive 26 11.2
47 spinocerebellar ataxia, autosomal recessive 27 11.2
48 ataxia and polyneuropathy, adult-onset 10.9
49 cervix erosion 10.7 SPG7 SETX
50 israeli tick typhus 10.7 SPTBN2 PMPCA

Graphical network of the top 20 diseases related to Autosomal Recessive Cerebellar Ataxia:



Diseases related to Autosomal Recessive Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Recessive Cerebellar Ataxia

Drugs & Therapeutics for Autosomal Recessive Cerebellar Ataxia

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
3 Trace Elements Phase 3
4 Vitamins Phase 3
5 Lecithin Phase 3
6 Complement System Proteins Phase 3
7 Nutrients Phase 3
8 Micronutrients Phase 3
9 Ubiquinone Phase 3
10
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171
11
tannic acid Approved Phase 2 1401-55-4
12
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
13 Bucindolol Investigational Phase 2 71119-11-4 51045
14 Adrenergic beta-1 Receptor Antagonists Phase 2
15 Adrenergic alpha-Antagonists Phase 2
16 Antihypertensive Agents Phase 2
17 Adrenergic Antagonists Phase 2
18 Sympatholytics Phase 2
19 Adrenergic Agents Phase 2
20 Anti-Arrhythmia Agents Phase 2
21 Vasodilator Agents Phase 2
22 Adrenergic beta-Antagonists Phase 2
23 Adrenergic alpha-1 Receptor Antagonists Phase 2
24 Sympathomimetics Phase 2
25 Neurotransmitter Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
2 GENETIC-AF - A Genotype-Directed Comparative Effectiveness Trial of Bucindolol and Toprol-XL for Prevention of Symptomatic Atrial Fibrillation/Atrial Flutter in Patients With Heart Failure Completed NCT01970501 Phase 2 bucindolol hydrochloride;metoprolol succinate
3 A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreich's Ataxia (MOXIe) Active, not recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
4 Lateral Arm Flap: Usage as Pedicle and Free Flap :A Case Series Completed NCT03763383
5 Exploitation of a BAse of Genetic Data (Obtained by Next Generation SEquencing) for the Validation of a Clinical Algorithm for the Diagnosis of Recessive Cerebellar Ataxias Recruiting NCT04099914
6 Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia Not yet recruiting NCT04261127
7 Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias Not yet recruiting NCT04297891

Search NIH Clinical Center for Autosomal Recessive Cerebellar Ataxia

Genetic Tests for Autosomal Recessive Cerebellar Ataxia

Anatomical Context for Autosomal Recessive Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Recessive Cerebellar Ataxia:

40
Heart, Lung, Colon, Prostate, Testes, Eye, Spleen

Publications for Autosomal Recessive Cerebellar Ataxia

Articles related to Autosomal Recessive Cerebellar Ataxia:

(show top 50) (show all 850)
# Title Authors PMID Year
1
The response regulator ArcA enhances biofilm formation in the vpsT manner under the anaerobic condition in Vibrio cholerae. 61
32283260 2020
2
Transcription Factor ArcA is a Flux Sensor for the Oxygen Consumption Rate in Escherichia coli. 61
32383263 2020
3
Evolution of mitochondrial gene arrangements in Arcidae (Bivalvia: Arcida) and their phylogenetic implications. 61
32512195 2020
4
Toxicity of Carbon, Silicon, and Metal-Based Nanoparticles to the Hemocytes of Three Marine Bivalves. 61
32397595 2020
5
Mutual interplay between ArcA and σE orchestrates envelope stress response in Shewanella oneidensis. 61
32372525 2020
6
Concurrence of multiple sclerosis, oligodendroglioma, and autosomal recessive cerebellar ataxia with spasticity in the same patient: A challenging diagnosis. 61
31954225 2020
7
Trace elements and oxidative stress in the Ark shell Arca noae from a Mediterranean coastal lagoon (Bizerte lagoon, Tunisia): are there health risks associated with their consumption? 61
32128728 2020
8
PEX10-related autosomal recessive cerebellar ataxia with hearing loss. 61
30022445 2020
9
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype. 61
32340215 2020
10
Interarterial course of anomalous right coronary artery: role of symptoms and surgical outcomes. 61
32310847 2020
11
Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison. 61
31933160 2020
12
Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene. 61
32259893 2020
13
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. 61
32170608 2020
14
Sudden Cardiac Death in a Patient with Anomalous Origin of Right Coronary Artery with Concomitant Sinus of Valsalva Aneurysm. 61
32328387 2020
15
Pretreatment HIV drug resistance and treatment failure in non-Italian HIV-1-infected patients enrolled in ARCA. 61
32118584 2020
16
Suppression of antibiotic resistance evolution by single-gene deletion. 61
32144279 2020
17
Predominance of methicillin-resistant Staphylococcus aureus SCCmec type II-CC5 and SCCmec type IV-CC1/CC8 among companion animal clinical isolates in Japan: Findings from phylogenetic comparison with human clinical isolates. 61
31472282 2020
18
Arginine Catabolic Mobile Element in Evolution and Pathogenicity of the Community-Associated Methicillin-Resistant Staphylococcus aureus Strain USA300. 61
32085445 2020
19
Expression regulation of multiple key genes to improve L-threonine in Escherichia coli. 61
32093713 2020
20
Computer-Aided Rational Design of Efficient NADPH Production System by Escherichia coli pgi Mutant Using a Mixture of Glucose and Xylose. 61
32318559 2020
21
Arca subcrenata Polypeptides Inhibit Human Colorectal Cancer HT-29 Cells Growth via Suppression of IGF-1R/Akt/mTOR Signaling and ATP Production. 61
31295033 2020
22
Magnesium Links Starvation-Mediated Antibiotic Persistence to ATP. 61
31915231 2020
23
No impact of previous NRTIs resistance in HIV positive patients switched to DTG+2NRTIs under virological control: Time of viral suppression makes the difference. 61
31629714 2019
24
The regulation of Moco biosynthesis and molybdoenzyme gene expression by molybdenum and iron in bacteria. 61
31517366 2019
25
Structural characterization of novel comb-like branched α-d-glucan from Arca inflata and its immunoregulatory activities in vitro and in vivo. 61
31552984 2019
26
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset. 61
31319223 2019
27
Identification and Characterization of a Novel Protein ASP-3 Purified from Arca subcrenata and Its Antitumor Mechanism. 61
31505835 2019
28
Transcriptional regulator ArcA mediates expression of oligopeptide transport systems both directly and indirectly in Shewanella oneidensis. 61
31554843 2019
29
Deletion of arcA, iclR, and tdcC in Escherichia coli to improve l-threonine production. 61
31177569 2019
30
Optimizing Modified mRNA In Vitro Synthesis Protocol for Heart Gene Therapy. 61
31508439 2019
31
Technical success and long-term outcomes after anomalous right coronary artery stenting with cardiac computed tomography angiography correlation. 61
31430026 2019
32
Proteomic analysis of ESBL-producing Escherichia coli under bentonite condition. 61
31154643 2019
33
Purification and characterization of a novel β-1,3-glucanase from Arca inflata and its immune-enhancing effects. 61
31000023 2019
34
Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia. 61
31078656 2019
35
Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia. 61
31291898 2019
36
[ANMCO/SIC/GISE/ARCA/SIRM Consensus document: Description of coronary atherosclerosis for diagnostic, prognostic and therapeutic purposes]. 61
31320766 2019
37
Anomalous Origin of the Right Coronary Artery from the Left Main Coronary Artery in the Setting of Critical Bicuspid Aortic Valve Stenosis. 61
31687103 2019
38
Incidentally Diagnosed Anomalous Right Coronary Artery with an Interarterial Course Presenting as Chest Pain. 61
31576257 2019
39
Antimicrobial susceptibility, virulence determinants profiles and molecular characteristics of Staphylococcus epidermidis isolates in Wenzhou, eastern China. 61
31288755 2019
40
The combined antimicrobial effect of arginine and fluoride toothpaste. 61
31182718 2019
41
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). 61
30778901 2019
42
Relationship between craving and impulsivity in patients with alcohol dependence with or without dual disorders in an outpatient treatment center: a descriptive study. 61
31233207 2019
43
First report on USA300 outbreak in a neonatal intensive care unit detected by polymerase chain reaction-based open reading frame typing in Japan. 61
30595348 2019
44
The effect of matrix interferences on in situ boron isotope analysis by laser ablation multi-collector inductively coupled plasma mass spectrometry. 61
30866057 2019
45
A decline in molluscan carbonate production driven by the loss of vegetated habitats encoded in the Holocene sedimentary record of the Gulf of Trieste. 61
30983639 2019
46
Prevalence and Genetic Characteristics of Methicillin-Resistant Staphylococcus aureus and Coagulase-Negative Staphylococci Isolated from Oral Cavity of Healthy Children in Japan. 61
30694723 2019
47
Prevalence of predicted resistance to doravirine in HIV-1-positive patients after exposure to non-nucleoside reverse transcriptase inhibitors. 61
30769200 2019
48
Left Atrial Myxoma Associated with Malignant Anomalous Course of Right Coronary Artery: A Rare Concurrent Incidence of Two Rare Diseases. 61
31281745 2019
49
Anomalous Coronary Artery Origin and Sudden Cardiac Death: Clinical and Pathological Insights From a National Pathology Registry. 61
31000108 2019
50
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia. 61
30624801 2019

Variations for Autosomal Recessive Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Recessive Cerebellar Ataxia:

6 (show top 50) (show all 126) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANO10 NM_018075.5(ANO10):c.132dup (p.Asp45fs)duplication Pathogenic 162016 rs540331226 3:43647212-43647213 3:43605720-43605721
2 SYNE1 NM_182961.4(SYNE1):c.16390-2A>GSNV Pathogenic/Likely pathogenic 667389 6:152639400-152639400 6:152318265-152318265
3 TWNK NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)SNV Conflicting interpretations of pathogenicity 426493 rs767175342 10:102748023-102748023 10:100988266-100988266
4 TWNK NM_021830.5(TWNK):c.1244-14C>TSNV Conflicting interpretations of pathogenicity 507889 rs758757135 10:102749387-102749387 10:100989630-100989630
5 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)SNV Conflicting interpretations of pathogenicity 632124 rs758026634 10:102749037-102749037 10:100989280-100989280
6 TWNK NM_021830.5(TWNK):c.1953G>A (p.Lys651=)SNV Conflicting interpretations of pathogenicity 878401 10:102753165-102753165 10:100993408-100993408
7 TWNK NM_021830.5(TWNK):c.672T>C (p.Ala224=)SNV Conflicting interpretations of pathogenicity 878844 10:102748639-102748639 10:100988882-100988882
8 TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=)SNV Conflicting interpretations of pathogenicity 136587 rs11542130 10:102748606-102748606 10:100988849-100988849
9 COQ8A NM_020247.5(COQ8A):c.291C>T (p.Ser97=)SNV Conflicting interpretations of pathogenicity 136299 rs111529228 1:227152814-227152814 1:226965113-226965113
10 TWNK NM_021830.5(TWNK):c.1735-14C>ASNV Conflicting interpretations of pathogenicity 136594 rs201795189 10:102752933-102752933 10:100993176-100993176
11 COQ8A NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)SNV Conflicting interpretations of pathogenicity 214033 rs376462712 1:227165191-227165191 1:226977490-226977490
12 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)SNV Conflicting interpretations of pathogenicity 214185 rs863223921 10:102749163-102749163 10:100989406-100989406
13 TWNK NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973
14 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)SNV Conflicting interpretations of pathogenicity 214178 rs370814108 10:102753187-102753187 10:100993430-100993430
15 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His)SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500
16 TWNK NM_021830.5(TWNK):c.241C>G (p.Leu81Val)SNV Conflicting interpretations of pathogenicity 279715 rs145068570 10:102748208-102748208 10:100988451-100988451
17 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=)SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594
18 COQ8A NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)SNV Conflicting interpretations of pathogenicity 296015 rs145034527 1:227169808-227169808 1:226982107-226982107
19 COQ8A NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)SNV Conflicting interpretations of pathogenicity 296018 rs139133094 1:227171487-227171487 1:226983786-226983786
20 COQ8A NM_020247.5(COQ8A):c.1399-13G>ASNV Conflicting interpretations of pathogenicity 296022 rs73087649 1:227172236-227172236 1:226984535-226984535
21 COQ8A NM_020247.5(COQ8A):c.1800C>T (p.Val600=)SNV Conflicting interpretations of pathogenicity 296028 rs74589348 1:227174294-227174294 1:226986593-226986593
22 ANO10 NM_018075.5(ANO10):c.1294-3deldeletion Conflicting interpretations of pathogenicity 345185 rs778730043 3:43602897-43602897 3:43561405-43561405
23 TWNK NM_021830.5(TWNK):c.-650A>GSNV Conflicting interpretations of pathogenicity 298484 rs187213541 10:102747318-102747318 10:100987561-100987561
24 TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)SNV Conflicting interpretations of pathogenicity 298500 rs62626271 10:102749009-102749009 10:100989252-100989252
25 TWNK NM_021830.5(TWNK):c.1488T>C (p.Thr496=)SNV Conflicting interpretations of pathogenicity 298502 rs549767223 10:102750196-102750196 10:100990439-100990439
26 TWNK NM_021830.5(TWNK):c.-290G>CSNV Conflicting interpretations of pathogenicity 298491 rs62626270 10:102747678-102747678 10:100987921-100987921
27 TWNK NM_021830.5(TWNK):c.*301C>TSNV Conflicting interpretations of pathogenicity 298507 rs41291468 10:102753568-102753568 10:100993811-100993811
28 SPTBN2 NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg)SNV Conflicting interpretations of pathogenicity 305593 rs190532690 11:66478158-66478158 11:66710687-66710687
29 TWNK NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)SNV Conflicting interpretations of pathogenicity 298494 rs577209883 10:102748043-102748043 10:100988286-100988286
30 TWNK NM_021830.5(TWNK):c.492C>T (p.Leu164=)SNV Conflicting interpretations of pathogenicity 298498 rs775463083 10:102748459-102748459 10:100988702-100988702
31 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=)SNV Conflicting interpretations of pathogenicity 298499 rs754389465 10:102748889-102748889 10:100989132-100989132
32 TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=)SNV Conflicting interpretations of pathogenicity 298501 rs200798080 10:102749068-102749068 10:100989311-100989311
33 TWNK NM_021830.5(TWNK):c.*419A>TSNV Conflicting interpretations of pathogenicity 298509 rs187553791 10:102753686-102753686 10:100993929-100993929
34 SPTBN2 NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln)SNV Conflicting interpretations of pathogenicity 305565 rs558572111 11:66468139-66468139 11:66700668-66700668
35 TWNK NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)SNV Conflicting interpretations of pathogenicity 383137 rs144001072 10:102750642-102750642 10:100990885-100990885
36 TDP1 NM_018319.4(TDP1):c.-232A>CSNV Uncertain significance 314814 rs886050882 14:90422313-90422313 14:89955969-89955969
37 SPTBN2 NM_006946.3(SPTBN2):c.2162G>A (p.Arg721His)SNV Uncertain significance 305576 rs200016211 11:66472585-66472585 11:66705114-66705114
38 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308
39 TWNK NM_021830.5(TWNK):c.*574C>TSNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084
40 TWNK NM_021830.5(TWNK):c.*619G>ASNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129
41 TWNK NM_021830.5(TWNK):c.*803A>GSNV Uncertain significance 298521 rs886046640 10:102754070-102754070 10:100994313-100994313
42 TWNK NM_021830.5(TWNK):c.*709C>GSNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219
43 TWNK NM_021830.5(TWNK):c.*747C>GSNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257
44 TWNK NM_021830.5(TWNK):c.*763T>CSNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273
45 TWNK NM_021830.5(TWNK):c.-585T>GSNV Uncertain significance 298486 rs886046624 10:102747383-102747383 10:100987626-100987626
46 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val)SNV Uncertain significance 298495 rs772221026 10:102748044-102748044 10:100988287-100988287
47 TWNK NM_021830.5(TWNK):c.-549G>ASNV Uncertain significance 298487 rs886046625 10:102747419-102747419 10:100987662-100987662
48 TWNK NM_021830.5(TWNK):c.-470G>ASNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741
49 TWNK NM_021830.5(TWNK):c.*438G>CSNV Uncertain significance 298510 rs886046634 10:102753705-102753705 10:100993948-100993948
50 TWNK NM_021830.5(TWNK):c.-644A>TSNV Uncertain significance 298485 rs886046623 10:102747324-102747324 10:100987567-100987567

Expression for Autosomal Recessive Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Cerebellar Ataxia.

Pathways for Autosomal Recessive Cerebellar Ataxia

Pathways related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 TWNK SPTBN2 GRM1

GO Terms for Autosomal Recessive Cerebellar Ataxia

Cellular components related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 parallel fiber to Purkinje cell synapse GO:0098688 8.62 SPTBN2 GRID2

Biological processes related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial calcium ion transmembrane transport GO:0006851 8.96 SPG7 PMPCA
2 mitochondrion organization GO:0007005 8.8 VPS13D TWNK SPG7

Molecular functions related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamate receptor activity GO:0008066 8.62 GRM1 GRID2

Sources for Autosomal Recessive Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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