ARCA
MCID: ATS307
MIFTS: 44

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 59 6 15
Arca 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050950
Orphanet 59 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 spinocerebellar ataxia, autosomal recessive 10 and spastic ataxia, charlevoix-saguenay type. An important gene associated with Autosomal Recessive Cerebellar Ataxia is ANO10 (Anoctamin 10). The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and colon, and related phenotypes are Increased vaccinia virus (VACV) infection and homeostasis/metabolism

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 138)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 10 34.0 SYNE1 ANO10
2 spastic ataxia, charlevoix-saguenay type 32.0 SETX FXN
3 spinocerebellar ataxia, autosomal recessive 21 31.8 UBA5 SPG7 GBA2
4 spinocerebellar ataxia 8 30.5 TWNK SYNE1
5 autosomal dominant cerebellar ataxia 30.0 TDP1 SPTBN2 FXN
6 vitamin e, familial isolated deficiency of 29.5 SPG7 SETX FXN AFP
7 3-methylglutaconic aciduria, type iii 28.8 SPG7 SLC25A46 PMPCA FXN
8 hereditary ataxia 28.7 TWNK TDP1 SPTBN2 SPG7 SETX FXN
9 aceruloplasminemia 28.4 VLDLR SYNE1 SPTBN2 SETX GBA2 FXN
10 autosomal recessive cerebellar ataxia with late-onset spasticity 12.4
11 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.4
12 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 12.4
13 autosomal recessive cerebellar ataxia due to a dna repair defect 12.4
14 spinocerebellar ataxia, autosomal recessive 8 12.3
15 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.1
16 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.8
17 spinocerebellar ataxia, autosomal recessive 16 11.7
18 spinocerebellar ataxia, autosomal recessive 12 11.7
19 spinocerebellar ataxia, autosomal recessive 17 11.7
20 coenzyme q10 deficiency, primary, 4 11.6
21 spinocerebellar ataxia, autosomal recessive 14 11.6
22 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.5
23 spinocerebellar ataxia, autosomal recessive 3 11.5
24 spinocerebellar ataxia, autosomal recessive 2 11.5
25 marinesco-sjogren syndrome 11.5
26 harding ataxia 11.5
27 spinocerebellar ataxia, autosomal recessive 4 11.4
28 spinocerebellar ataxia, autosomal recessive 11 11.4
29 spinocerebellar ataxia, autosomal recessive 15 11.4
30 spinocerebellar ataxia, autosomal recessive 23 11.4
31 boucher-neuhauser syndrome 11.2
32 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 11.2
33 cerebellar ataxia, mental retardation and dysequlibrium syndrome 11.2
34 ataxia and polyneuropathy, adult-onset 10.9
35 spinocerebellar ataxia 20 10.5 SPTBN2 SNX14
36 apraxia 10.5
37 oculomotor apraxia 10.5
38 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.5 SPTBN2 SETX
39 friedreich ataxia 1 10.4
40 ataxia-telangiectasia 10.4
41 spastic ataxia 10.4
42 telangiectasis 10.4
43 spinocerebellar ataxia 15 10.4 STUB1 SPTBN2
44 proximal spinal muscular atrophy 10.3 SPG7 SETX
45 ataxia with vitamin e deficiency 10.3
46 syne1 deficiency 10.3
47 abetalipoproteinemia 10.3
48 coenzyme q10 deficiency disease 10.3
49 neuropathy 10.3
50 spastic paraplegia 49, autosomal recessive 10.3 SPG7 SNX14

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 AFP ANO10 ATM COQ8A CWF19L1 FXN

MGI Mouse Phenotypes related to Autosomal Recessive Cerebellar Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 AFP ANO10 ATM FXN GBA2 SETX

Drugs & Therapeutics for Autosomal Recessive Cerebellar Ataxia

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

(show all 27)
# 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 Ubiquinone Phase 3
4 Complement System Proteins Phase 3
5 Vitamins Phase 3
6 Nutrients Phase 3
7 Micronutrients Phase 3
8 Lecithin Phase 3
9 Trace Elements Phase 3
10
tannic acid Approved Phase 2 1401-55-4
11
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171
12
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
13 Bucindolol Investigational Phase 2 71119-11-4 51045
14 Sympathomimetics Phase 2
15 Neurotransmitter Agents Phase 2
16 Antihypertensive Agents Phase 2
17 Adrenergic alpha-Antagonists Phase 2
18 Adrenergic beta-1 Receptor Antagonists Phase 2
19 Adrenergic Antagonists Phase 2
20 Adrenergic alpha-1 Receptor Antagonists Phase 2
21 Peripheral Nervous System Agents Phase 2
22 Adrenergic beta-Antagonists Phase 2
23 Adrenergic Agents Phase 2
24 Anti-Arrhythmia Agents Phase 2
25 Sympatholytics Phase 2
26 Vasodilator Agents Phase 2
27 Autonomic 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

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:

41
Heart, Lung, Colon, Prostate, Testes, Spleen, Eye

Publications for Autosomal Recessive Cerebellar Ataxia

Articles related to Autosomal Recessive Cerebellar Ataxia:

(show top 50) (show all 815)
# Title Authors PMID Year
1
Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia. 38
31078656 2019
2
Purification and characterization of a novel β-1,3-glucanase from Arca inflata and its immune-enhancing effects. 38
31000023 2019
3
Technical success and long-term outcomes after anomalous right coronary artery stenting with cardiac computed tomography angiography correlation. 38
31430026 2019
4
Proteomic analysis of ESBL-producing Escherichia coli under bentonite condition. 38
31154643 2019
5
Arca subcrenata Polypeptides Inhibit Human Colorectal Cancer HT-29 Cells Growth via Suppression of IGF-1R/Akt/mTOR Signaling and ATP Production. 38
31295033 2019
6
Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia. 38
31291898 2019
7
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset. 38
31319223 2019
8
[ANMCO/SIC/GISE/ARCA/SIRM Consensus document: Description of coronary atherosclerosis for diagnostic, prognostic and therapeutic purposes]. 38
31320766 2019
9
Antimicrobial susceptibility, virulence determinants profiles and molecular characteristics of Staphylococcus epidermidis isolates in Wenzhou, eastern China. 38
31288755 2019
10
The combined antimicrobial effect of arginine and fluoride toothpaste. 38
31182718 2019
11
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). 38
30778901 2019
12
Deletion of arcA, iclR, and tdcC in Escherichia coli to improve l-threonine production. 38
31177569 2019
13
Relationship between craving and impulsivity in patients with alcohol dependence with or without dual disorders in an outpatient treatment center: a descriptive study. 38
31233207 2019
14
First report on USA300 outbreak in a neonatal intensive care unit detected by polymerase chain reaction-based open reading frame typing in Japan. 38
30595348 2019
15
The effect of matrix interferences on in situ boron isotope analysis by laser ablation multi-collector inductively coupled plasma mass spectrometry. 38
30866057 2019
16
A decline in molluscan carbonate production driven by the loss of vegetated habitats encoded in the Holocene sedimentary record of the Gulf of Trieste. 38
30983639 2019
17
Prevalence and Genetic Characteristics of Methicillin-Resistant Staphylococcus aureus and Coagulase-Negative Staphylococci Isolated from Oral Cavity of Healthy Children in Japan. 38
30694723 2019
18
Prevalence of predicted resistance to doravirine in HIV-1-positive patients after exposure to non-nucleoside reverse transcriptase inhibitors. 38
30769200 2019
19
Anomalous Coronary Artery Origin and Sudden Cardiac Death: Clinical and Pathological Insights From a National Pathology Registry. 38
31000108 2019
20
Left Atrial Myxoma Associated with Malignant Anomalous Course of Right Coronary Artery: A Rare Concurrent Incidence of Two Rare Diseases. 38
31281745 2019
21
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 38
30548255 2019
22
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia. 38
30624801 2019
23
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations. 38
30662006 2019
24
CitAB Two-Component System-Regulated Citrate Utilization Contributes to Vibrio cholerae Competitiveness with the Gut Microbiota. 38
30559220 2019
25
Mycoplasma enhydrae sp. nov. isolated from southern sea otters (Enhydra lutris nereis). 38
30543510 2019
26
Role of arginine deiminase in thymic atrophy during experimental Streptococcus pyogenes infection. 38
30471128 2019
27
Human exposure to mercury and its hematological effects: a systematic review. 38
30758455 2019
28
Prevalence and determinants of resistance mutations in HIV-1-infected patients exposed to integrase inhibitors in a large Italian cohort. 38
30461149 2019
29
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. 38
30515630 2019
30
Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies. 38
30790538 2019
31
Cooperative Function of TraJ and ArcA in Regulating the F Plasmid tra Operon. 38
30322855 2019
32
Structure and reactivity of a siderophore-interacting protein from the marine bacterium Shewanella reveals unanticipated functional versatility. 38
30420426 2019
33
Regulation of Respiratory Pathways in Campylobacterota: A Review. 38
31417516 2019
34
Molecular Characterization of Methicillin Resistant Staphylococcus aureus in West Bank-Palestine. 38
31192182 2019
35
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. 38
31220124 2019
36
Characterization and development of SAPP as a specific peptidic inhibitor that targets Porphyromonas gingivalis. 38
30298683 2018
37
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. 38
30460542 2018
38
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 38
30308956 2018
39
Proteomic Delineation of the ArcA Regulon in Salmonella Typhimurium During Anaerobiosis. 38
30038032 2018
40
Microbial Cell Factories à la Carte: Elimination of Global Regulators Cra and ArcA Generates Metabolic Backgrounds Suitable for the Synthesis of Bioproducts in Escherichia coli. 38
30030227 2018
41
Evolution of transmitted HIV-1 drug resistance and viral subtypes circulation in Italy from 2006 to 2016. 38
29932313 2018
42
Impact of transmitted HIV-1 drug resistance on the efficacy of first-line antiretroviral therapy with two nucleos(t)ide reverse transcriptase inhibitors plus an integrase inhibitor or a protease inhibitor. 38
29945251 2018
43
Coordinated Hibernation of Transcriptional and Translational Apparatus during Growth Transition of Escherichia coli to Stationary Phase. 38
30225374 2018
44
Purification and structural characterization of a novel antioxidant and antibacterial protein from Arca inflata. 38
29733930 2018
45
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. 38
30084953 2018
46
Changes in the tissue concentrations of trace elements during the reproductive cycle of Noah's Ark shells (Arca noae Linnaeus, 1758). 38
30041325 2018
47
Routes of phosphoryl group transfer during signal transmission and signal decay in the dimeric sensor histidine kinase ArcB. 38
29945971 2018
48
Dolutegravir (DTG)-containing regimens after receiving raltegravir (RAL) or elvitegravir (EVG): Durability and virological response in a large Italian HIV drug resistance network (ARCA). 38
29957545 2018
49
Engineering Escherichia coli for Glutarate Production as the C5 Platform Backbone. 38
29858204 2018
50
Effect of global transcriptional regulators on kinetic behavior of Escherichia coli under anaerobic fermentation conditions. 38
29748694 2018

Variations for Autosomal Recessive Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Recessive Cerebellar Ataxia:

6 (show top 50) (show all 211)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COQ8A NM_020247.5(COQ8A): c.993C> T (p.Phe331=) single nucleotide variant Conflicting interpretations of pathogenicity rs41303129 1:227170648-227170648 1:226982947-226982947
2 COQ8A NM_020247.5(COQ8A): c.258A> C (p.Ala86=) single nucleotide variant Conflicting interpretations of pathogenicity rs137872711 1:227152781-227152781 1:226965080-226965080
3 COQ8A NM_020247.5(COQ8A): c.291C> T (p.Ser97=) single nucleotide variant Conflicting interpretations of pathogenicity rs111529228 1:227152814-227152814 1:226965113-226965113
4 COQ8A NM_020247.5(COQ8A): c.63G> A (p.Ala21=) single nucleotide variant Conflicting interpretations of pathogenicity rs11549709 1:227149149-227149149 1:226961448-226961448
5 TWNK NM_021830.5(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 10:102750730-102750730 10:100990973-100990973
6 COQ8A NM_020247.5(COQ8A): c.697G> A (p.Ala233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376462712 1:227165191-227165191 1:226977490-226977490
7 COQ8A NM_020247.5(COQ8A): c.811C> T (p.Arg271Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145034527 1:227169808-227169808 1:226982107-226982107
8 COQ8A NM_020247.5(COQ8A): c.1188C> T (p.Asp396=) single nucleotide variant Conflicting interpretations of pathogenicity rs139133094 1:227171487-227171487 1:226983786-226983786
9 COQ8A NM_020247.5(COQ8A): c.1399-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs73087649 1:227172236-227172236 1:226984535-226984535
10 COQ8A NM_020247.5(COQ8A): c.1800C> T (p.Val600=) single nucleotide variant Conflicting interpretations of pathogenicity rs74589348 1:227174294-227174294 1:226986593-226986593
11 COQ8A NM_020247.5(COQ8A): c.1809C> T (p.Pro603=) single nucleotide variant Conflicting interpretations of pathogenicity rs774789966 1:227174303-227174303 1:226986602-226986602
12 ANO10 NM_018075.5(ANO10): c.980A> G (p.Tyr327Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146569520 3:43618366-43618366 3:43576874-43576874
13 SPTBN2 NM_006946.3(SPTBN2): c.3431G> A (p.Arg1144Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs558572111 11:66468139-66468139 11:66700668-66700668
14 TDP1 NM_018319.4(TDP1): c.1705A> G (p.Thr569Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs35973343 14:90499510-90499510 14:90033166-90033166
15 TDP1 NM_018319.4(TDP1): c.1747A> G (p.Ser583Gly) single nucleotide variant Uncertain significance rs201355368 14:90499552-90499552 14:90033208-90033208
16 TDP1 NM_018319.4(TDP1): c.*904C> T single nucleotide variant Uncertain significance rs886050884 14:90510391-90510391 14:90044047-90044047
17 TDP1 NM_018319.4(TDP1): c.1343G> A (p.Arg448Gln) single nucleotide variant Uncertain significance rs144746398 14:90456086-90456086 14:89989742-89989742
18 TDP1 NM_018319.4(TDP1): c.1366+10G> A single nucleotide variant Uncertain significance rs200295380 14:90456119-90456119 14:89989775-89989775
19 TDP1 NM_018319.4(TDP1): c.*1015G> A single nucleotide variant Uncertain significance rs374734859 14:90510502-90510502 14:90044158-90044158
20 TDP1 NM_018319.3(TDP1): c.-275C> G single nucleotide variant Uncertain significance rs886050881 14:90422270-90422270 14:89955926-89955926
21 TDP1 NM_018319.4(TDP1): c.*1203G> T single nucleotide variant Uncertain significance rs531417402 14:90510690-90510690 14:90044346-90044346
22 TDP1 NM_018319.4(TDP1): c.*1355G> A single nucleotide variant Uncertain significance rs755484553 14:90510842-90510842 14:90044498-90044498
23 TDP1 NM_018319.3(TDP1): c.-292G> T single nucleotide variant Uncertain significance rs577403021 14:90422253-90422253 14:89955909-89955909
24 TDP1 NM_018319.4(TDP1): c.-76T> C single nucleotide variant Uncertain significance rs886050883 14:90423076-90423076 14:89956732-89956732
25 TDP1 NM_018319.4(TDP1): c.-55C> G single nucleotide variant Uncertain significance rs751280891 14:90423097-90423097 14:89956753-89956753
26 TDP1 NM_018319.4(TDP1): c.716A> G (p.His239Arg) single nucleotide variant Uncertain significance rs750038981 14:90437575-90437575 14:89971231-89971231
27 TDP1 NM_018319.4(TDP1): c.885-15T> C single nucleotide variant Uncertain significance rs375601290 14:90450845-90450845 14:89984501-89984501
28 SPTBN2 NM_006946.3(SPTBN2): c.3430C> T (p.Arg1144Ter) single nucleotide variant Uncertain significance 11:66468140-66468140 11:66700669-66700669
29 TDP1 NM_018319.4(TDP1): c.15C> T (p.Gly5=) single nucleotide variant Uncertain significance rs779666160 14:90429473-90429473 14:89963129-89963129
30 TDP1 NM_018319.3(TDP1): c.-278C> T single nucleotide variant Uncertain significance rs886050880 14:90422267-90422267 14:89955923-89955923
31 TDP1 NM_018319.4(TDP1): c.-232A> C single nucleotide variant Uncertain significance rs886050882 14:90422313-90422313 14:89955969-89955969
32 TDP1 NM_018319.4(TDP1): c.789C> T (p.His263=) single nucleotide variant Uncertain significance rs562317662 14:90442157-90442157 14:89975813-89975813
33 TDP1 NM_018319.4(TDP1): c.884+5G> A single nucleotide variant Uncertain significance rs370991229 14:90446981-90446981 14:89980637-89980637
34 TDP1 NM_018319.4(TDP1): c.1342C> T (p.Arg448Trp) single nucleotide variant Uncertain significance rs141725364 14:90456085-90456085 14:89989741-89989741
35 TDP1 NM_018319.4(TDP1): c.*774G> A single nucleotide variant Uncertain significance rs372910082 14:90510261-90510261 14:90043917-90043917
36 TDP1 NM_018319.4(TDP1): c.*776T> C single nucleotide variant Uncertain significance rs761481355 14:90510263-90510263 14:90043919-90043919
37 TWNK NM_021830.5(TWNK): c.1853C> T (p.Pro618Leu) single nucleotide variant Uncertain significance rs886046632 10:102753065-102753065 10:100993308-100993308
38 TWNK NM_021830.5(TWNK): c.*574C> T single nucleotide variant Uncertain significance rs886046636 10:102753841-102753841 10:100994084-100994084
39 TWNK NM_021830.5(TWNK): c.*619G> A single nucleotide variant Uncertain significance rs886046637 10:102753886-102753886 10:100994129-100994129
40 TWNK NM_021830.5(TWNK): c.*803A> G single nucleotide variant Uncertain significance rs886046640 10:102754070-102754070 10:100994313-100994313
41 TDP1 NM_018319.4(TDP1): c.*264G> T single nucleotide variant Uncertain significance rs779122283 14:90509751-90509751 14:90043407-90043407
42 TWNK NM_021830.5(TWNK): c.77G> T (p.Gly26Val) single nucleotide variant Uncertain significance rs772221026 10:102748044-102748044 10:100988287-100988287
43 TDP1 NM_018319.4(TDP1): c.19T> C (p.Tyr7His) single nucleotide variant Uncertain significance rs754747710 14:90429477-90429477 14:89963133-89963133
44 TDP1 NM_018319.4(TDP1): c.1317+11G> A single nucleotide variant Uncertain significance rs36009827 14:90455445-90455445 14:89989101-89989101
45 TDP1 NM_018319.4(TDP1): c.1799C> T (p.Thr600Met) single nucleotide variant Uncertain significance rs772139596 14:90509459-90509459 14:90043115-90043115
46 TDP1 NM_018319.4(TDP1): c.*945C> T single nucleotide variant Uncertain significance rs540904390 14:90510432-90510432 14:90044088-90044088
47 SPTBN2 NM_006946.3(SPTBN2): c.2162G> A (p.Arg721His) single nucleotide variant Uncertain significance rs200016211 11:66472585-66472585 11:66705114-66705114
48 ANO10 NM_018075.5(ANO10): c.338-11T> C single nucleotide variant Uncertain significance rs774494441 3:43640169-43640169 3:43598677-43598677
49 ANO10 NM_018075.5(ANO10): c.192A> G (p.Leu64=) single nucleotide variant Uncertain significance rs146432615 3:43642021-43642021 3:43600529-43600529
50 ANO10 NM_018075.5(ANO10): c.-31G> C single nucleotide variant Uncertain significance rs533146042 3:43663420-43663420 3:43621928-43621928

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

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.67 TDP1 STUB1 SETX ATM
2 mitochondrion organization GO:0007005 9.33 TWNK SPG7 FXN
3 mitochondrial calcium ion transmembrane transport GO:0006851 9.32 SPG7 PMPCA
4 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.26 UFM1 UBA5
5 protein ufmylation GO:0071569 8.96 UFM1 UBA5
6 protein K69-linked ufmylation GO:1990592 8.62 UFM1 UBA5

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

# Name GO ID Score Top Affiliating Genes
1 DNA helicase activity GO:0003678 8.62 TWNK SETX

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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62 PubMed
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