MCID: CRB198
MIFTS: 32

Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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

Name: Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 58
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 71
Cerebellar Ataxia with Bilateral Vestibulopathy Syndrome 58
Cabv Syndrome 58
Canvas 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

MalaCards based summary : Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome, also known as cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, is related to ataxia and polyneuropathy, adult-onset and aceruloplasminemia, and has symptoms including gait ataxia, cerebellar ataxia and imbalance. An important gene associated with Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome is RFC1 (Replication Factor C Subunit 1). The drugs Sodium-Glucose Transporter 2 Inhibitors and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are dysarthria and delayed speech and language development

Related Diseases for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.6
2 aceruloplasminemia 10.6
3 neuropathy 10.6
4 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 10.5
5 pathologic nystagmus 10.3
6 arts syndrome 10.2
7 diarrhea 10.2
8 machado-joseph disease 10.1
9 friedreich ataxia 10.1
10 leprosy 3 10.1
11 vascular disease 10.1
12 sensory peripheral neuropathy 10.1
13 dermatitis 10.1
14 contact dermatitis 10.1
15 hyperglycemia 10.1
16 end stage renal failure 10.1
17 hansen's disease 10.1
18 polyploidy 10.1
19 hepatocellular carcinoma 9.9
20 multiple system atrophy 1 9.9
21 migraine with or without aura 1 9.9
22 parkinson disease, late-onset 9.9
23 triiodothyronine receptor auxiliary protein 9.9
24 pancreatic cancer 9.9
25 yemenite deaf-blind hypopigmentation syndrome 9.9
26 body mass index quantitative trait locus 1 9.9
27 lung cancer susceptibility 3 9.9
28 spinocerebellar ataxia 45 9.9
29 peripheral vascular disease 9.9
30 spastic ataxia 9.9
31 early-onset parkinson's disease 9.9
32 physical disorder 9.9
33 xerophthalmia 9.9
34 bacterial infectious disease 9.9
35 sarcoma 9.9
36 keratoconjunctivitis sicca 9.9
37 polyneuropathy 9.9
38 autosomal dominant cerebellar ataxia 9.9
39 adenocarcinoma 9.9
40 allergic contact dermatitis 9.9
41 cellulitis 9.9
42 spindle cell sarcoma 9.9
43 folliculitis 9.9
44 peritonitis 9.9
45 cataract 9.9
46 vasculitis 9.9
47 myeloid leukemia 9.9
48 diabetes mellitus 9.9
49 otitis externa 9.9
50 anca-associated vasculitis 9.9

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



Diseases related to Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome

Symptoms & Phenotypes for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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

58 31 (show all 16)
# 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 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
6 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
9 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
10 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
11 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
12 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
13 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
14 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
15 vestibular areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0008568
16 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108

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


gait ataxia, cerebellar ataxia, imbalance

Drugs & Therapeutics for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Sodium-Glucose Transporter 2 Inhibitors Phase 4
2 Hypoglycemic Agents Phase 4
3 5-(4-chloro-3-(4-ethoxybenzyl)phenyl)-1-hydroxymethyl-6,8-dioxabicyclo(3.2.1)... Phase 4
4 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 3
5 Adrenergic beta-Antagonists Phase 3
6 Angiotensin-Converting Enzyme Inhibitors Phase 3
7
Ethylene Phase 1 74-85-1 6325
8
Remifentanil Approved 132875-61-7 60815
9
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
10
tannic acid Approved 1401-55-4
11
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
12
Rocuronium Approved 119302-91-9, 143558-00-3 441290
13
Warfarin Approved 81-81-2 6691 54678486
14
Heparin Approved, Investigational 9005-49-6 772 46507594
15
Enoxaparin Approved 9005-49-6 772
16
Dalteparin Approved 9005-49-6
17
Edoxaban Approved 480449-70-5
18
Apixaban Approved 503612-47-3 10182969
19
Fondaparinux Approved, Investigational 104993-28-4
20
Rivaroxaban Approved 366789-02-8
21
Canagliflozin Approved 842133-18-0
22
Dabigatran Investigational 211914-51-1
23 Antiparasitic Agents
24 Antiprotozoal Agents
25 Antimalarials
26 Anti-Infective Agents
27 Acidophilus
28 Anesthetics
29 Narcotics
30 Anesthetics, General
31 Analgesics, Opioid
32 Hypnotics and Sedatives
33 Central Nervous System Depressants
34 Anesthetics, Intravenous
35 Analgesics
36 Fibrinolytic Agents
37 Antithrombins
38 Serine Proteinase Inhibitors
39 Anticoagulants
40 Heparin, Low-Molecular-Weight
41 calcium heparin
42 Antithrombin III
43 PENTA
44 Factor Xa Inhibitors
45 HIV Protease Inhibitors
46
protease inhibitors
47 Dipeptidyl-Peptidase IV Inhibitors
48
Serine Investigational, Nutraceutical 56-45-1 5951

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 A Randomized, Multicenter, Double-Blind, Parallel, Placebo-Controlled Study of the Effects of Canagliflozin on Renal Endpoints in Adult Subjects With Type 2 Diabetes Mellitus Completed NCT01989754 Phase 4 Placebo;Canagliflozin, 100 mg;Canagliflozin, 300 mg
2 Phase 4, Randomized, Placebo-controlled, Cross-over Trial to Assess the Effect of 4-week Ertugliflozin (SGLT-2 Inhibitor) Therapy on Renal Oxygenation by BOLD-MRI and Renal Oxygen Consumption by PET Using ¹¹C-acetate in T2DM Without Kidney Disease and Healthy Controls. Not yet recruiting NCT04027530 Phase 4 Ertugliflozin 15 mg
3 A Randomized, Multicenter, Double-Blind, Parallel, Placebo-Controlled Study of the Effects of JNJ-28431754 on Cardiovascular Outcomes in Adult Subjects With Type 2 Diabetes Mellitus Completed NCT01032629 Phase 3 Placebo;Canagliflozin (JNJ-28431754) 100 mg;Canagliflozin (JNJ-28431754) 300 mg
4 Maggot Therapy for Wound Debridement: a Randomized Multicentric Double-blind Trial Completed NCT01211236 Phase 3
5 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
6 Effect of Dapagliflozin on the Progression From Prediabetes to T2DM in Subjects With Myocardial Infarction Not yet recruiting NCT03658031 Phase 3 Dapagliflozin 10mg
7 Effect of Forced-air Warming and Circulating-water Mattress in Preventing Heat Loss During Vascular Surgery Completed NCT00712023 Phase 2
8 ERtugliflozin triAl in DIabetes With Preserved or Reduced ejeCtion FrAcTion mEchanistic Evaluation in Heart Failure: "ERADICATE-HF" Not yet recruiting NCT03416270 Phase 2 Ertugliflozin;Placebo
9 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
10 Narrative Comprehension by People With Acquired Brain Injury Unknown status NCT03309930
11 Treatment of Hypertensive Leg Ulcer by Adipose Tissue Grafting Unknown status NCT01932021
12 Comparison of Inextensible and Extensible Lumbosacral Orthoses for the Management of Episodes of Lower Back Pain Completed NCT01933399
13 Innovative Public-private Partnership to Target Subsidized Antimalarials in the Retail Sector Completed NCT02199977
14 Geriatric Inclusive Art: Effects of Painting Sessions on Older In-patients With Cognitive Decline Completed NCT03624387
15 Home Evaluation of Visual Exit Barriers in Dementia-related Wandering Completed NCT00997425
16 Effect of Probiotic Tablets and Topical Probiotic Oil (Lactobacillus. Reuteri) on Oral Wound Healing (Pilot Study) Completed NCT03210779
17 Shoes for Kids on the Island of Pemba (SKIP): A Pragmatic, Cluster Randomised Controlled Trial to Test if Shoes Reduce Hookworm Infection and Transmission in School-aged Children on Pemba Island, Zanzibar Completed NCT01869127
18 The Value of Integrating Visual Arts (VIVA): Evaluating the Benefits of Hospital Room Artwork on Inpatient Wellbeing Completed NCT02357160
19 Choice of Anesthesia for Endovascular Treatment of Acute Ischemic Stroke in Posterior Circulation: a Randomized Controlled Exploratory Study (CANVAS-Ⅱ) Recruiting NCT03317535
20 Locating Nociceptive Stimuli Applied to the Lumbar Region in Healthy Subjects and in Subjects With Chronic Low Back Pain Recruiting NCT03463109
21 Improving Family Quality of Life Through Training to Reduce Care-Resistant Behaviors by People With Alzheimer Dementia and Traumatic Brain Injury (NeuroNS) Study Recruiting NCT03734289
22 Direct Oral Anticoagulants (DOACs) Versus LMWH +/- Warfarin for VTE in Cancer: A Randomized Effectiveness Trial (CANVAS Trial) Recruiting NCT02744092 Rivaroxaban;Apixaban;Edoxaban;Dabigatran;Warfarin;Dalteparin;Enoxaparin;Fondaparinux
23 Testing Tele-Savvy, an On-line Psychoeducation Program for Dementia Family Caregivers Recruiting NCT03033875
24 Efficacy of a New Design of Foot Abduction Brace (FAB) Compared to Standard FAB During Ponseti Treatment of Idiopathic Clubfoot by Measuring Rate of Recurrence and Compliance Using Novel Touch Sensors Recruiting NCT03249805
25 Replication of Canagliflozin and Cardiovascular and Renal Events in Type 2 Diabetes (CANVAS Trial) Active, not recruiting NCT03936010 Canagliflozin;DPP-4 inhibitor
26 Is Stroke Neurodegenerative? A Longitudinal Study of Brain Volume and Cognitive Decline Following Stroke (CANVAS: Cognition And Neocortical Volume After Stroke). Active, not recruiting NCT02205424
27 Increasing Provider Competence for Treating Stress-related Mental Health Conditions in Low Resource Settings Active, not recruiting NCT03602222
28 Development and Evaluation of ACT on Health: An Online Health Promotion Program Not yet recruiting NCT03932994
29 In-person and Online Healthy Eating Promotion Through Self-regulation (HEP-S): Assessing the Efficacy of a Narrative-based Intervention Not yet recruiting NCT04099498

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

Genetic Tests for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

Anatomical Context for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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

40
Brain, Testes, Heart, Kidney, Lung, Myeloid

Publications for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

Articles related to Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome:

(show all 18)
# Title Authors PMID Year
1
Is Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) a Vestibular Ganglionopathy? 61
31418719 2019
2
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. 61
31230722 2019
3
What Is Behind Cerebellar Vertigo and Dizziness? 61
30552638 2019
4
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). 61
29089158 2018
5
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres. 61
29696497 2018
6
Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family. 61
29628936 2018
7
Mathematical Methods for Measuring the Visually Enhanced Vestibulo-Ocular Reflex and Preliminary Results from Healthy Subjects and Patient Groups. 61
29483893 2018
8
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation. 61
26566912 2016
9
Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. 61
25130975 2015
10
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome. 61
25070514 2014
11
[Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) in an imbalance patient]. 61
23587257 2014
12
Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. 61
24682971 2014
13
CANVAS an update: clinical presentation, investigation and management. 61
25564090 2014
14
The treatment and natural course of peripheral and central vertigo. 61
24000301 2013
15
Peripheral vestibular disorders. 61
23254559 2013
16
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report. 61
21451431 2011
17
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. 61
21950986 2011
18
Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. 61
21624989 2011

Variations for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RFC1 RFC1, (AAGGG)n REPEAT EXPANSIONundetermined variant Pathogenic 625839
2 RFC1 NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)]indel Pathogenic 625876 4:39350045-39350099
3 RFC1 NC_000004.11:g.39350045_39350099delinsAAAGG[(400_2000)]indel Pathogenic 625877 4:39350045-39350099
4 ELF2 NM_001331036.2(ELF2):c.10G>A (p.Ala4Thr)SNV Likely pathogenic 431175 rs747574524 4:140058846-140058846 4:139137692-139137692

Expression for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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

Pathways for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

GO Terms for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

Sources for Cerebellar Ataxia with Neuropathy and Bilateral Vestibular...

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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