CANVAS
MCID: CRB196
MIFTS: 47

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

MalaCards integrated aliases for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:

Name: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 57 72 36 6 70
Canvas 57 58 72
Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 58
Ataxia, Cerebellar, Neuropathy, and Vestibular Areflexia Syndrome 39
Cerebellar Ataxia with Bilateral Vestibulopathy Syndrome 58
Neurologic Manifestations 44
Cabv Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
adult onset (mean 54 years)


HPO:

31
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

OMIM® : 57 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011). (614575) (Updated 20-May-2021)

MalaCards based summary : Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome, also known as canvas, is related to pellagra-like syndrome and griscelli syndrome, type 3, and has symptoms including gait ataxia, cerebellar ataxia and imbalance. An important gene associated with Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome is RFC1 (Replication Factor C Subunit 1). The drugs Dexmedetomidine and Adrenergic alpha-Agonists have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and pituitary, and related phenotypes are dysarthria and delayed speech and language development

KEGG : 36 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset, slowly progressive neurological disorder characterized by imbalance, sensory neuropathy, bilateral vestibulopathy, and chronic cough. Biallelic expansion of an intronic repeat in RFC1 is a cause of CANVAS.

UniProtKB/Swiss-Prot : 72 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit.

Related Diseases for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Diseases related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 611)
# Related Disease Score Top Affiliating Genes
1 pellagra-like syndrome 11.1
2 griscelli syndrome, type 3 11.1
3 perrault syndrome 1 11.0
4 hyperprolinemia, type i 11.0
5 schindler disease, type i 11.0
6 wilson disease 10.9
7 localized scleroderma 10.9
8 kanzaki disease 10.9
9 schindler disease 10.9
10 griscelli syndrome, type 1 10.9
11 gaucher disease, type i 10.9
12 retinitis pigmentosa with or without skeletal anomalies 10.9
13 hyperuricemia, hprt-related 10.9
14 mental retardation, x-linked, syndromic, cabezas type 10.9
15 niemann-pick disease, type b 10.9
16 combined malonic and methylmalonic aciduria 10.9
17 immunoskeletal dysplasia with neurodevelopmental abnormalities 10.9
18 deafness, autosomal dominant 78 10.9
19 beriberi 10.9
20 ataxia and polyneuropathy, adult-onset 10.6
21 neuropathy 10.6
22 encephalopathy 10.4
23 lyme disease 10.4
24 peripheral nervous system disease 10.4
25 encephalitis 10.3
26 osteochondrosis 10.3
27 sensory peripheral neuropathy 10.3
28 pathologic nystagmus 10.3
29 rfc1 canvas / spectrum disorder 10.3
30 dysphagia 10.3
31 swallowing disorders 10.3
32 type 2 diabetes mellitus 10.3
33 sarcoidosis 1 10.3
34 ocular motor apraxia 10.3
35 aseptic meningitis 10.3
36 porphyria 10.3
37 purpura 10.3
38 acquired immunodeficiency syndrome 10.3
39 meningoencephalitis 10.2
40 myelitis 10.2
41 myopathy 10.2
42 systemic lupus erythematosus 10.2
43 endocarditis 10.2
44 guillain-barre syndrome 10.2
45 toxoplasmosis 10.2
46 neuritis 10.2
47 movement disease 10.2
48 diabetes mellitus 10.2
49 deficiency anemia 10.2
50 exanthem 10.2

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:



Diseases related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Symptoms & Phenotypes for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Human phenotypes related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
3 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
4 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
5 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
6 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
7 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
8 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
9 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
10 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
11 vestibular areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0008568
12 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
13 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
14 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
15 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
16 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
17 hyporeflexia 31 HP:0001265
18 positive romberg sign 31 HP:0002403
19 cerebellar atrophy 31 HP:0001272
20 postural instability 31 HP:0002172
21 limb ataxia 31 HP:0002070
22 axonal loss 31 HP:0003447
23 gaze-evoked nystagmus 31 HP:0000640
24 impaired horizontal smooth pursuit 31 HP:0001151

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
gait ataxia
positive romberg sign
cerebellar atrophy
cerebellar ataxia
more
Head And Neck Eyes:
gaze-evoked nystagmus
impaired horizontal smooth pursuit
oscillopsia
impairment of compensatory eye movement reflexes
impaired visually enhanced vestibuloocular reflex (vvor)
more
Neurologic Peripheral Nervous System:
hyporeflexia
peripheral neuropathy, sensory
sensory impairment, non length-dependent
decreased or absent sensory nerve action potentials, upper and lower limbs
loss of myelinated fibers seen on sural nerve biopsy

Head And Neck Ears:
normal hearing
loss of vestibular reflexes
atrophy of vestibular nerves and ganglion cells (ascertained in 1 patient)

Clinical features from OMIM®:

614575 (Updated 20-May-2021)

UMLS symptoms related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:


gait ataxia; cerebellar ataxia; imbalance

Drugs & Therapeutics for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Drugs for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2 Adrenergic alpha-Agonists Phase 4
3 Hypnotics and Sedatives Phase 4
4 Adrenergic Agonists Phase 4
5 Adrenergic Agents Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Omega 3 Fatty Acid Phase 4
8
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 5862
9
Zidovudine Approved Phase 1 30516-87-1 35370
10
Nimodipine Approved, Investigational Phase 1 66085-59-4 4497
11 Anti-Retroviral Agents Phase 1
12 Anti-HIV Agents Phase 1
13 Anti-Infective Agents Phase 1
14 Antiviral Agents Phase 1
15 Vasodilator Agents Phase 1
16 Antimetabolites Phase 1
17 Hormones Phase 1
18 Reverse Transcriptase Inhibitors Phase 1
19 Antihypertensive Agents Phase 1
20 calcium channel blockers Phase 1
21
Ethylene Phase 1 74-85-1 6325
22
Miglustat Approved 72599-27-0 51634
23
Sufentanil Approved, Investigational 56030-54-7 41693
24
Lidocaine Approved, Vet_approved 137-58-6 3676
25
Amphetamine Approved, Illicit, Investigational 300-62-9 5826 3007
26
Warfarin Approved 81-81-2 6691 54678486
27
Edoxaban Approved 480449-70-5
28
Rivaroxaban Approved 366789-02-8
29
Enoxaparin Approved 9005-49-6 772
30
Fondaparinux Approved, Investigational 104993-28-4
31
Apixaban Approved 503612-47-3 10182969
32
Dalteparin Approved 9005-49-6
33
Heparin Approved, Investigational 9005-49-6 772 9812414
34
Tinzaparin Approved 9041-08-1, 9005-49-6 25244225
35
Carbon monoxide Approved, Investigational 630-08-0 281
36
Methadone Approved 76-99-3 4095
37
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
38
Morphine Approved, Investigational 57-27-2 5288826
39
Phenylpropanolamine Approved, Vet_approved, Withdrawn 14838-15-4 26934
40
Remifentanil Approved 132875-61-7 60815
41
tannic acid Approved 1401-55-4
42
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
43
Rocuronium Approved 119302-91-9, 143558-00-3 441290
44
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
45
4-Aminopyridine Approved 504-24-5 1727
46
Canagliflozin Approved 842133-18-0
47
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198
48
Ketamine Approved, Vet_approved 6740-88-1 3821
49
Polyestradiol phosphate Approved 28014-46-2
50
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757

Interventional clinical trials:

(show top 50) (show all 104)
# Name Status NCT ID Phase Drugs
1 Cognitive Outcomes After Dexmedetomidine Sedation in Cardiac Surgery Patients: CODEX Trial Recruiting NCT04289142 Phase 4 Dexmedetomidine Hydrochloride Group
2 The Potential Effect of Omega3 Supplement in Fish Oil on Infarced Areas in the Brain and Improvement of Neurological Functions fo Ischemic Stroke Patients Not yet recruiting NCT04386525 Phase 4
3 A Phase 3b Multicenter, Single-Arm, Open-Label Safety Study of LY2951742 (Galcanezumab) in Patients With Episodic or Chronic Cluster Headache Completed NCT02797951 Phase 3 Galcanezumab
4 A Randomized, Blinded Study of Fluorescence Detection of Pediatric Primary Central Nervous System Tumors in Subjects Receiving Tozuleristide and Imaged With the Canvas System Recruiting NCT03579602 Phase 2, Phase 3 tozuleristide
5 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270
6 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Active, not recruiting NCT03643562 Phase 3 Adrabetadex
7 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Active, not recruiting NCT03879655 Phase 2, Phase 3 VTS-270
8 Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
9 A Multicenter, Open-label, Follow-up Study to Evaluate the Long-term Safety and Tolerability of BGG492 TID as Adjunctive Therapy in Patients With Partial Onset Seizures Completing Double-blind, Placebo-controlled Study CBGG492A2207 or CBGG492A2211 Completed NCT01338805 Phase 2 BGG492
10 A 12-week, Multi-center, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study Examining Seizure Frequency of BGG492 Capsules as Adjunctive Treatment in Patients With Partial Onset Seizures Completed NCT01147003 Phase 2 Investigational new drug, company code: BGG492;Placebo;Investigational new drug, company code: BGG492
11 PeriOperative Interventional Neuroprotection Trial (POINT) Completed NCT00041392 Phase 2 Magnesium;0.9% saline
12 Influence of CPB Temperature on CABG Morbidity Completed NCT00000604 Phase 2
13 An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913130 Phase 1, Phase 2 QR-110
14 A Phase 2 Study of Fluorescence Detection of Adult Primary Central Nervous System Tumors in Subjects Receiving Tozuleristide and Imaged With the Canvas System Not yet recruiting NCT04743310 Phase 2 tozuleristide
15 A 12-week, Randomized, Double-blind, Placebo-controlled Exploratory Study to Assess the Antiepileptic Activity of BGG492 Given Orally as Adjunctive Treatment in Patients With Refractory Partial Onset Seizures Withdrawn NCT01167335 Phase 2 BGG492;Placebo
16 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Withdrawn NCT03687476 Phase 2 VTS-270
17 Hyperbaric Oxygen Therapy Can Improve Neurological State Post Meningioma Removal Surgery -Randomized Prospective Trial Unknown status NCT02084927 Phase 1
18 Intraoperative Infrared Functional Brain Mapping Completed NCT00001554 Phase 1
19 Randomized, Double-Blind, Placebo-Controlled Trial of Nimodipine for the Neurological Manifestations of HIV-1 Completed NCT00000738 Phase 1 Nimodipine;Zidovudine
20 Therapeutic Effect of Inexpensive, Flexible and Non-heeled Footwear on the Clinical, Functional and Gait Biomechanics in Elderly Women With Knee Osteoarthritis: a Randomized Clinical Trial Completed NCT01342458 Phase 1
21 Cannulation of the Artery Axiliaris for Extracorporeal Circulation Unknown status NCT01615172
22 Evaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIB Unknown status NCT02520934 Miglustat;ERT
23 The Effects of Intermittent Epidural Bolus Versus Continuous Epidural Infusion on Fever for Labor Analgesia in Primiparous Women Unknown status NCT01708668
24 Can Bedside Ultrasonographic Measurements of Optic Nerve Sheath Diameter Following the Return of Spontaneous Circulation Predict Negative Neurological Outcome in Out of Hospital Cardiac Arrest Patients? Unknown status NCT02637258
25 Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants Unknown status NCT02691156
26 Evaluation of the Effectiveness of Three Different Approaches for the Rehabilitation of Gait in Patients With Parkinson's Disease: Treadmill Versus Treadmill-plus Versus Virtual Reality Unknown status NCT03021408
27 Saving Brains In Uganda And Burkina Faso (PROMISE Saving Brains) Unknown status NCT01882335
28 Development of Potential Biomarkers for Foetal Brain Development After Congenital CMV Infection Unknown status NCT03188679
29 The Effect of Respiration Rate During Pranayama Practice on the Autonomic Nervous System Unknown status NCT03280589 Early Phase 1
30 Pilot Study Using a Video Game to Train Cognitive Control Processes in Healthy Older Adults Completed NCT00586638
31 Neurovirus Emerging in the Americas Study (NEAS): Neurologic Manifestations of the Arbovirus Dengue, Chikungunya and Zika Infections in Colombia Completed NCT03206541
32 An Investigation of Knee Position Sense, Balance, and Dual Task Performance in Different Phases of Menstrual Cycle in Females With Multiple Sclerosis Completed NCT04286828
33 KLOS Study - Korean Medicine Registry for Low Back Pain Patients, a Prospective, Observational, Multicenter, Pilot Study Completed NCT02418286
34 Spinal Anesthesia Using Lidocaine and Sufentanil and TNS (=Transient Neurological Symptoms) Completed NCT01283087
35 The Effects of a Long-lasting Infusion of Vasoactive Intestinal Peptide (VIP) on Headache, Cranial Hemodynamic and Autonomic Symptoms in Episodic Migraine Patients Without Aura Completed NCT04260035 Vasoactive Intestinal Polypeptide (VIP);Sterile saline
36 TLSO Versus No Orthosis for the Treatment of Thoracolumbar Burst Fractures Without Neurologic Injury: A Multicenter Prospective Randomized Equivalence Trial Completed NCT01741168
37 The Relationship Between Pain, Anxiety and Fatigue and Knee Position Sense, Balance and Dual Task Performance During Menstrual Cycle in Females With Multiple Sclerosis Completed NCT04408742
38 Music Therapy as a Pain Modifying Intervention in Children With Life-limiting Neurological Impairments and Metabolic Conditions Completed NCT01456884
39 Non-Motor Features of Cervical Dystonia Completed NCT03471923
40 New CVD Risk Factors for Lowered Cognitive Functioning Completed NCT00037310
41 RICALOR - Registro Italiano Complicanze Anestesia LOco Regionale - Italian Registry for Complications During Regional Anesthesia Completed NCT02038491
42 Outcomes of Sleep Disorders in Older Men Completed NCT00070681
43 Age, Risk Factors for CVD and Cognitive Functioning Completed NCT00007397
44 Evolution of Ischemic Stroke Subtypes in Hong Kong Completed NCT03936439
45 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
46 fMRI and Spectroscopy Studies of Cortical Plasticity at 1.5 and 3 Tesla Completed NCT00006424
47 NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing Completed NCT01969370
48 Neuropsychological Studies of Children With Sickle Cell Completed NCT00005438
49 Prevalence of Comorbid Spasticity and Urinary Incontinence in Residents of a Long-Term Care Facility Completed NCT03250988
50 Using Telemedicine to Improve Spasticity Diagnosis Rates Completed NCT03211390

Search NIH Clinical Center for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Cochrane evidence based reviews: neurologic manifestations

Genetic Tests for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Anatomical Context for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

MalaCards organs/tissues related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:

40
Skin, Kidney, Pituitary, Eye, Bone, Heart, Liver

Publications for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Articles related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:

(show top 50) (show all 824)
# Title Authors PMID Year
1
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. 61 6 57
32851396 2020
2
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 61 57 6
30926972 2019
3
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. 57 61
21950986 2011
4
Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. 57
14607788 2004
5
Cardiovascular and renal outcomes with canagliflozin according to baseline diuretic use: a post hoc analysis from the CANVAS Program. 61
33595905 2021
6
Macrovascular Risk Equations Based on the CANVAS Program. 61
33580867 2021
7
Social network data of Swiss farmers related to agricultural climate change mitigation. 61
33718550 2021
8
Dissociating embodiment and emotional reactivity in motor responses to artworks. 61
33761410 2021
9
Transforming University of California, Irvine medical physiology instruction into the pandemic era. 61
33733055 2021
10
Production of Fuel from Plastic Waste: A Feasible Business. 61
33809658 2021
11
Cardiovascular effects of SGLT-2 inhibitors and GLP-1 receptor agonists: the P-value and beyond. 61
33764645 2021
12
Point-of-care testing in pharmacies-An evaluation of the service from the lens of resource-based theory of competitive advantage. 61
33309067 2021
13
[SGLT2 inhibitors: A new era for our patients]. 61
33773943 2021
14
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort. 61
33666721 2021
15
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. 61
33495376 2021
16
Oncology expressive arts: providing a window to reflect on a stressful experience. 61
33729909 2021
17
CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions. 61
32910249 2021
18
Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia. 61
33745133 2021
19
The Pathology of the Vestibular System in CANVAS. 61
33492056 2021
20
Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1. 61
33188504 2021
21
Sensory neuronopathies: new genes, new antibodies and new concepts. 61
33563795 2021
22
Investigating the microstructural properties of normal-appearing white matter (NAWM) preceding conversion to white matter hyperintensities (WMHs) in stroke survivors. 61
33577935 2021
23
An unusual case of high-voltage electrical injury involving fractal wood burning. 61
33521782 2021
24
Scalable Scalable Vector Graphics: Automatic Translation of Interactive SVGs to a Multithread VDOM for Fast Rendering. 61
33587700 2021
25
An exploration of the heterogeneity in effects of SGLT2 inhibition on cardiovascular and all-cause mortality in the EMPA-REG OUTCOME, CANVAS Program, DECLARE-TIMI 58, and CREDENCE trials. 61
32979427 2021
26
RFC1 CANVAS: the expanding phenotype. 61
33563796 2021
27
Correction to: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1. 61
33225422 2021
28
Controlled Environment Neutron Radiography of Moisture Sorption/Desorption in Nanocellulose-Treated Cotton Painting Canvases. 61
33615232 2021
29
StructGraphics: Flexible Visualization Design through Data-Agnostic and Reusable Graphical Structures. 61
33048753 2021
30
Protective effects of SGLT-2 inhibitors across the cardiorenal continuum: two faces of the same coin. 61
33659986 2021
31
Autosomal STR and SNP characterization of populations from the Northeastern Peruvian Andes with the ForenSeq™ DNA Signature Prep Kit. 61
33640735 2021
32
PlotThread: Creating Expressive Storyline Visualizations using Reinforcement Learning. 61
33048748 2021
33
Canagliflozin: metabolic, cardiovascular and renal protection. 61
33538620 2021
34
Investigating counterfeiting of an artwork by XRF, SEM-EDS, FTIR and synchrotron radiation induced MA-XRF at LNLS-BRAZIL. 61
32987269 2021
35
Sodium-glucose co-transporter-2 inhibitors and atrial fibrillation in the cardiovascular and renal outcome trials. 61
33001548 2021
36
When a House Is Not a Home: A Survey of Antimetastatic Niches and Potential Mechanisms of Disseminated Tumor Cell Suppression. 61
33276706 2021
37
Successful implementation of telemedicine depends on personal relations between company representatives and healthcare providers: A qualitative study of business models for Danish home telemonitoring. 61
33508963 2021
38
It's more than just interoception: The insular cortex involvement in alcohol use disorder. 61
33486788 2021
39
A versatile and user-friendly approach for the analysis of proteins in ancient and historical objects. 61
33147491 2021
40
Insulin-Like Growth Factor Binding Protein 7 Predicts Renal and Cardiovascular Outcomes in the Canagliflozin Cardiovascular Assessment Study. 61
33158949 2021
41
Relative Efficiency of Drag Fabrics for Collection of Blacklegged Tick (Acari: Ixodidae) Larvae, Nymphs, and Adults. 61
33511399 2021
42
Relative and Absolute Risk Reductions in Cardiovascular and Kidney Outcomes With Canagliflozin Across KDIGO Risk Categories: Findings From the CANVAS Program. 61
32971190 2021
43
Transition From a Standard to a Hybrid On-Site and Remote Anatomic Pathology Training Model During the Coronavirus Disease 2019 (COVID-19) Pandemic. 61
32937659 2021
44
The presence of dysphagia in patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a subjective and objective study. 61
33433750 2021
45
Surrogate cardiovascular outcomes with sodium-glucose co-transporter-2 inhibitors in women: An updated meta-analysis. 61
33714400 2021
46
Kidney Disease in Type 2 Diabetes Mellitus and Benefits of Sodium-Glucose Cotransporter 2 Inhibitors: A Consensus Statement. 61
33025397 2020
47
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia. 61
32694621 2020
48
Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. 61
32939785 2020
49
Sodium-glucose co-transporter-2 inhibitors and major adverse limb events: A trial-level meta-analysis including 51 713 individuals. 61
32744411 2020
50
Network Building with the Cytoscape BioGateway App Explained in Five Use Cases. 61
32986267 2020

Variations for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

ClinVar genetic disease variations for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RFC1 NC_000004.12:g.39348425AARRG[(400_2000)] Microsatellite Pathogenic 625839 GRCh37:
GRCh38:
2 RFC1 NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)] Indel Pathogenic 625876 GRCh37: 4:39350045-39350099
GRCh38:
3 RFC1 NC_000004.11:g.39350045_39350099delinsAAAGG[(400_2000)] Indel Pathogenic 625877 GRCh37: 4:39350045-39350099
GRCh38:
4 RFC1 NC_000004.12:g.39348425AAAGG[(10_25)]AAGGG[(n)] Microsatellite Pathogenic 986302 GRCh37:
GRCh38: 4:39348425-39348425
5 RFC1 NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)] Microsatellite Pathogenic 996311 GRCh37:
GRCh38:
6 RFC1 NC_000004.12:g.39348425AAGGG[(400_2000)] Microsatellite Pathogenic 997970 GRCh37:
GRCh38:
7 ELF2 NM_001331036.2(ELF2):c.10G>A (p.Ala4Thr) SNV Likely pathogenic 431175 rs747574524 GRCh37: 4:140058846-140058846
GRCh38: 4:139137692-139137692
8 RFC1 NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)] Microsatellite Uncertain significance 996310 GRCh37:
GRCh38:
9 RFC1 NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) SNV Uncertain significance 1030298 GRCh37: 4:39329310-39329310
GRCh38: 4:39327690-39327690
10 RFC1 NM_002913.5(RFC1):c.132+2923= Microsatellite Benign 996307 GRCh37: 4:39350045-39350099
GRCh38: 4:39348425-39348479
11 RFC1 NM_001204747.1:c.132+2923_2927AAAAG[(12_200)] Microsatellite Benign 996308 GRCh37:
GRCh38:
12 RFC1 NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)] Microsatellite Benign 996309 GRCh37:
GRCh38:

Expression for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Search GEO for disease gene expression data for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Pathways for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

GO Terms for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Biological processes related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.96 RFC1 ELF2
2 negative regulation of transcription, DNA-templated GO:0045892 8.62 RFC1 ELF2

Molecular functions related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.62 RFC1 ELF2

Sources for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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