ARCA
MCID: ATS307
MIFTS: 41

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 hereditary ataxia that has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Cerebellar Ataxia, also known as arca, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and coenzyme q10 deficiency, primary, 4. An important gene associated with Autosomal Recessive Cerebellar Ataxia is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). 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 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 153)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.7 TDP1 SPTBN2 SETX COQ8A
2 coenzyme q10 deficiency, primary, 4 33.3 SETX COQ8A
3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 33.3 SPTBN2 SETX AFP
4 spinocerebellar ataxia, autosomal recessive 21 32.8 UBA5 GBA2
5 aceruloplasminemia 32.0 SYNE1 SPTBN2 SETX H2AC18 GRID2 GBA2
6 hereditary ataxia 31.3 TWNK TDP1 SPTBN2 SPG7 SNX14 SETX
7 vitamin e, familial isolated deficiency of 31.2 SETX COQ8A
8 3-methylglutaconic aciduria, type iii 31.1 TWNK SPG7 SNX14 PMPCA
9 autosomal dominant cerebellar ataxia 31.1 TWNK TDP1 STUB1 SPTBN2 SPG7 SETX
10 axonal neuropathy 31.0 TWNK TDP1 SETX
11 cerebellar ataxia, nonprogressive, with mental retardation 31.0 VLDLR CWF19L1
12 spastic paraplegia 46, autosomal recessive 30.9 SPG7 GBA2
13 hereditary spastic paraplegia 30.7 SPG7 SETX GRID2 GBA2
14 autosomal recessive cerebellar ataxia with late-onset spasticity 12.4
15 spinocerebellar ataxia, autosomal recessive 8 12.4
16 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.4
17 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 12.4
18 autosomal recessive cerebellar ataxia due to a dna repair defect 12.4
19 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.1
20 spinocerebellar ataxia, autosomal recessive 10 12.1
21 spinocerebellar ataxia, autosomal recessive 3 12.0
22 spinocerebellar ataxia, autosomal recessive 4 12.0
23 spinocerebellar ataxia, autosomal recessive 23 12.0
24 spinocerebellar ataxia, autosomal recessive 16 11.7
25 spinocerebellar ataxia, autosomal recessive 12 11.7
26 spinocerebellar ataxia, autosomal recessive 17 11.7
27 spinocerebellar ataxia, autosomal recessive 14 11.6
28 spastic ataxia, charlevoix-saguenay type 11.5
29 cerebellar ataxia, early-onset, with retained tendon reflexes 11.5
30 spinocerebellar ataxia, autosomal recessive 2 11.5
31 marinesco-sjogren syndrome 11.5
32 spinocerebellar ataxia, autosomal recessive 24 11.5
33 spinocerebellar ataxia, autosomal recessive 11 11.4
34 spinocerebellar ataxia, autosomal recessive 15 11.4
35 boucher-neuhauser syndrome 11.2
36 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 11.2
37 spinocerebellar ataxia, autosomal recessive 6 11.2
38 spinocerebellar ataxia, autosomal recessive 22 11.2
39 spinocerebellar ataxia, autosomal recessive 27 11.2
40 cerebellar ataxia, mental retardation and dysequlibrium syndrome 11.2
41 ataxia and polyneuropathy, adult-onset 10.9
42 ataxia-oculomotor apraxia 3 10.7 TDP1 SETX
43 cerebral palsy, ataxic, autosomal recessive 10.7 SPTBN2 COQ8A
44 cervix erosion 10.7 SPG7 SETX
45 spinocerebellar ataxia 20 10.7 SPTBN2 SNX14
46 spinocerebellar ataxia 13 10.7 SPTBN2 SNX14 COQ8A
47 proximal spinal muscular atrophy 10.7 SPG7 SETX
48 spastic paraplegia 73, autosomal dominant 10.6 UBA5 GBA2
49 spinocerebellar ataxia type 1 with axonal neuropathy 10.6 TDP1 SETX H2AC18
50 charcot-marie-tooth hereditary neuropathy 10.6 SPG7 SETX

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 Vitamins Phase 3
4 Trace Elements Phase 3
5 Nutrients Phase 3
6 Lecithin Phase 3
7 Micronutrients Phase 3
8 Complement System Proteins Phase 3
9 Ubiquinone Phase 3
10
tannic acid Approved Phase 2 1401-55-4
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12
Metoprolol Approved, Investigational Phase 2 51384-51-1, 37350-58-6 4171
13 Bucindolol Investigational Phase 2 71119-11-4 51045
14 Antihypertensive Agents Phase 2
15 Neurotransmitter Agents Phase 2
16 Sympathomimetics Phase 2
17 Anti-Arrhythmia Agents Phase 2
18 Adrenergic alpha-Antagonists Phase 2
19 Adrenergic Antagonists Phase 2
20 Adrenergic beta-1 Receptor Antagonists Phase 2
21 Adrenergic beta-Antagonists Phase 2
22 Vasodilator Agents Phase 2
23 Autonomic Agents Phase 2
24 Sympatholytics Phase 2
25 Adrenergic 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 Not yet recruiting NCT04099914

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 833)
# Title Authors PMID Year
1
Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison. 61
31933160 2020
2
Concurrence of multiple sclerosis, oligodendroglioma, and autosomal recessive cerebellar ataxia with spasticity in the same patient: A challenging diagnosis. 61
31954225 2020
3
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
4
Magnesium Links Starvation-Mediated Antibiotic Persistence to ATP. 61
31915231 2020
5
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
6
The regulation of Moco biosynthesis and molybdoenzyme gene expression by molybdenum and iron in bacteria. 61
31517366 2019
7
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset. 61
31319223 2019
8
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
9
Deletion of arcA, iclR, and tdcC in Escherichia coli to improve l-threonine production. 61
31177569 2019
10
Transcriptional regulator ArcA mediates expression of oligopeptide transport systems both directly and indirectly in Shewanella oneidensis. 61
31554843 2019
11
Identification and Characterization of a Novel Protein ASP-3 Purified from Arca subcrenata and Its Antitumor Mechanism. 61
31505835 2019
12
Optimizing Modified mRNA In Vitro Synthesis Protocol for Heart Gene Therapy. 61
31508439 2019
13
Technical success and long-term outcomes after anomalous right coronary artery stenting with cardiac computed tomography angiography correlation. 61
31430026 2019
14
Proteomic analysis of ESBL-producing Escherichia coli under bentonite condition. 61
31154643 2019
15
Purification and characterization of a novel β-1,3-glucanase from Arca inflata and its immune-enhancing effects. 61
31000023 2019
16
Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia. 61
31078656 2019
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 2019
18
Antimicrobial susceptibility, virulence determinants profiles and molecular characteristics of Staphylococcus epidermidis isolates in Wenzhou, eastern China. 61
31288755 2019
19
[ANMCO/SIC/GISE/ARCA/SIRM Consensus document: Description of coronary atherosclerosis for diagnostic, prognostic and therapeutic purposes]. 61
31320766 2019
20
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
21
Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia. 61
31291898 2019
22
Incidentally Diagnosed Anomalous Right Coronary Artery with an Interarterial Course Presenting as Chest Pain. 61
31576257 2019
23
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). 61
30778901 2019
24
The combined antimicrobial effect of arginine and fluoride toothpaste. 61
31182718 2019
25
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
26
The effect of matrix interferences on in situ boron isotope analysis by laser ablation multi-collector inductively coupled plasma mass spectrometry. 61
30866057 2019
27
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
28
Anomalous Coronary Artery Origin and Sudden Cardiac Death: Clinical and Pathological Insights From a National Pathology Registry. 61
31000108 2019
29
Left Atrial Myxoma Associated with Malignant Anomalous Course of Right Coronary Artery: A Rare Concurrent Incidence of Two Rare Diseases. 61
31281745 2019
30
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
31
Prevalence of predicted resistance to doravirine in HIV-1-positive patients after exposure to non-nucleoside reverse transcriptase inhibitors. 61
30769200 2019
32
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
33
CitAB Two-Component System-Regulated Citrate Utilization Contributes to Vibrio cholerae Competitiveness with the Gut Microbiota. 61
30559220 2019
34
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia. 61
30624801 2019
35
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 61
30548255 2019
36
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations. 61
30662006 2019
37
Transfer of the Namibian Argistes africanus Simon, 1910 (Araneae: Liocranidae) to Afroceto Lyle amp; Haddad, 2010 (Trachelidae), with a new synonym. 61
31715813 2019
38
Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies. 61
30790538 2019
39
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. 61
30515630 2019
40
Human exposure to mercury and its hematological effects: a systematic review. 61
30758455 2019
41
Role of arginine deiminase in thymic atrophy during experimental Streptococcus pyogenes infection. 61
30471128 2019
42
Mycoplasma enhydrae sp. nov. isolated from southern sea otters (Enhydra lutris nereis). 61
30543510 2019
43
Prevalence and determinants of resistance mutations in HIV-1-infected patients exposed to integrase inhibitors in a large Italian cohort. 61
30461149 2019
44
Structure and reactivity of a siderophore-interacting protein from the marine bacterium Shewanella reveals unanticipated functional versatility. 61
30420426 2019
45
Effects of 405-nm LED Treatment on the Resistance of Listeria monocytogenes to Subsequent Environmental Stresses. 61
31474971 2019
46
The protein regulator ArgR and the sRNA derived from the 3'-UTR region of its gene, ArgX, both regulate the arginine deiminase pathway in Lactococcus lactis. 61
31220124 2019
47
Molecular Characterization of Methicillin Resistant Staphylococcus aureus in West Bank-Palestine. 61
31192182 2019
48
Regulation of Respiratory Pathways in Campylobacterota: A Review. 61
31417516 2019
49
Animal Breed Composition Is Associated With the Hindgut Microbiota Structure and β-Lactam Resistance in the Multibreed Angus-Brahman Herd. 61
31456774 2019
50
Focal Choroidal Elevations: Localized Pigment Epithelial Contour Alterations due to Isolated Choroidal Vessels. 61
31687198 2019

Variations for Autosomal Recessive Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Recessive Cerebellar Ataxia:

6 (show top 50) (show all 213) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 TDP1 NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)SNV Conflicting interpretations of pathogenicity 314839 rs35973343 14:90499510-90499510 14:90033166-90033166
4 TDP1 NM_018319.4(TDP1):c.1366+10G>ASNV Conflicting interpretations of pathogenicity 314838 rs200295380 14:90456119-90456119 14:89989775-89989775
5 SPTBN2 NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln)SNV Conflicting interpretations of pathogenicity 305565 rs558572111 11:66468139-66468139 11:66700668-66700668
6 COQ8A NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)SNV Conflicting interpretations of pathogenicity 214033 rs376462712 1:227165191-227165191 1:226977490-226977490
7 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His)SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500
8 COQ8A NM_020247.5(COQ8A):c.258A>C (p.Ala86=)SNV Conflicting interpretations of pathogenicity 136298 rs137872711 1:227152781-227152781 1:226965080-226965080
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.1697A>G (p.Lys566Arg)SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973
11 COQ8A NM_020247.5(COQ8A):c.63G>A (p.Ala21=)SNV Conflicting interpretations of pathogenicity 136294 rs11549709 1:227149149-227149149 1:226961448-226961448
12 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=)SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594
13 COQ8A NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)SNV Conflicting interpretations of pathogenicity 296020 rs147097934 1:227171796-227171796 1:226984095-226984095
14 COQ8A NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)SNV Conflicting interpretations of pathogenicity 296027 rs886046069 1:227174207-227174207 1:226986506-226986506
15 COQ8A NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)SNV Conflicting interpretations of pathogenicity 296015 rs145034527 1:227169808-227169808 1:226982107-226982107
16 COQ8A NM_020247.5(COQ8A):c.798G>A (p.Thr266=)SNV Conflicting interpretations of pathogenicity 296014 rs750042754 1:227169795-227169795 1:226982094-226982094
17 COQ8A NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)SNV Conflicting interpretations of pathogenicity 296018 rs139133094 1:227171487-227171487 1:226983786-226983786
18 COQ8A NM_020247.5(COQ8A):c.1399-13G>ASNV Conflicting interpretations of pathogenicity 296022 rs73087649 1:227172236-227172236 1:226984535-226984535
19 COQ8A NM_020247.5(COQ8A):c.1800C>T (p.Val600=)SNV Conflicting interpretations of pathogenicity 296028 rs74589348 1:227174294-227174294 1:226986593-226986593
20 COQ8A NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)SNV Conflicting interpretations of pathogenicity 296029 rs774789966 1:227174303-227174303 1:226986602-226986602
21 ANO10 NM_018075.5(ANO10):c.1669-8T>GSNV Conflicting interpretations of pathogenicity 345178 rs115769245 3:43591348-43591348 3:43549856-43549856
22 ANO10 NM_018075.5(ANO10):c.1294-3deldeletion Conflicting interpretations of pathogenicity 345185 rs778730043 3:43602897-43602897 3:43561405-43561405
23 ANO10 NM_018075.5(ANO10):c.1683G>C (p.Thr561=)SNV Conflicting interpretations of pathogenicity 345177 rs141040660 3:43591326-43591326 3:43549834-43549834
24 ANO10 NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln)SNV Conflicting interpretations of pathogenicity 345187 rs61732728 3:43618213-43618213 3:43576721-43576721
25 ANO10 NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)SNV Conflicting interpretations of pathogenicity 345189 rs146569520 3:43618366-43618366 3:43576874-43576874
26 SPTBN2 NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg)SNV Conflicting interpretations of pathogenicity 305593 rs190532690 11:66478158-66478158 11:66710687-66710687
27 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=)SNV Conflicting interpretations of pathogenicity 298499 rs754389465 10:102748889-102748889 10:100989132-100989132
28 TWNK NM_021830.5(TWNK):c.-549G>ASNV Uncertain significance 298487 rs886046625 10:102747419-102747419 10:100987662-100987662
29 TWNK NM_021830.5(TWNK):c.-470G>ASNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741
30 TWNK NM_021830.5(TWNK):c.*709C>GSNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219
31 TWNK NM_021830.5(TWNK):c.*747C>GSNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257
32 TWNK NM_021830.5(TWNK):c.*763T>CSNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273
33 TWNK NM_021830.5(TWNK):c.-585T>GSNV Uncertain significance 298486 rs886046624 10:102747383-102747383 10:100987626-100987626
34 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308
35 TWNK NM_021830.5(TWNK):c.*574C>TSNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084
36 TWNK NM_021830.5(TWNK):c.*619G>ASNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129
37 TWNK NM_021830.5(TWNK):c.*803A>GSNV Uncertain significance 298521 rs886046640 10:102754070-102754070 10:100994313-100994313
38 TWNK NM_021830.5(TWNK):c.-423C>TSNV Uncertain significance 298489 rs886046627 10:102747545-102747545 10:100987788-100987788
39 TWNK NM_021830.5(TWNK):c.-105T>CSNV Uncertain significance 298493 rs886046629 10:102747863-102747863 10:100988106-100988106
40 TWNK NM_021830.5(TWNK):c.274G>A (p.Gly92Ser)SNV Uncertain significance 298496 rs886046630 10:102748241-102748241 10:100988484-100988484
41 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=)SNV Uncertain significance 298497 rs886046631 10:102748243-102748243 10:100988486-100988486
42 TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)SNV Uncertain significance 298500 rs62626271 10:102749009-102749009 10:100989252-100989252
43 TWNK NM_021830.5(TWNK):c.*234T>GSNV Uncertain significance 298506 rs886046633 10:102753501-102753501 10:100993744-100993744
44 TWNK NM_021830.5(TWNK):c.*555G>ASNV Uncertain significance 298514 rs886046635 10:102753822-102753822 10:100994065-100994065
45 TWNK NM_021830.5(TWNK):c.-644A>TSNV Uncertain significance 298485 rs886046623 10:102747324-102747324 10:100987567-100987567
46 TWNK NM_021830.5(TWNK):c.*438G>CSNV Uncertain significance 298510 rs886046634 10:102753705-102753705 10:100993948-100993948
47 SPTBN2 NM_006946.3(SPTBN2):c.4985+12G>ASNV Uncertain significance 305551 rs199692345 11:66460429-66460429 11:66692958-66692958
48 ANO10 NM_018075.5(ANO10):c.676G>A (p.Ala226Thr)SNV Uncertain significance 345190 rs188443010 3:43618670-43618670 3:43577178-43577178
49 ANO10 NM_018075.5(ANO10):c.-74C>TSNV Uncertain significance 345200 rs886058482 3:43663463-43663463 3:43621971-43621971
50 ANO10 NM_018075.5(ANO10):c.*452A>GSNV Uncertain significance 345162 rs886058476 3:43407946-43407946 3:43366454-43366454

Expression for Autosomal Recessive Cerebellar Ataxia

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

Pathways for Autosomal Recessive Cerebellar Ataxia

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 steroid metabolic process GO:0008202 8.8 WWOX VLDLR GBA2

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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