MCID: CRB198
MIFTS: 29

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 59
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 72
Cerebellar Ataxia with Bilateral Vestibulopathy Syndrome 59
Cabv Syndrome 59
Canvas 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA504476
UMLS 72 C3281223

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 56)
# 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 1 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 hansen's disease 10.1
17 polyploidy 10.1
18 hepatocellular carcinoma 10.0
19 multiple system atrophy 1 10.0
20 migraine with or without aura 1 10.0
21 parkinson disease, late-onset 10.0
22 triiodothyronine receptor auxiliary protein 10.0
23 pancreatic cancer 10.0
24 yemenite deaf-blind hypopigmentation syndrome 10.0
25 lung cancer susceptibility 3 10.0
26 spinocerebellar ataxia 45 10.0
27 peripheral vascular disease 10.0
28 spastic ataxia 10.0
29 early-onset parkinson's disease 10.0
30 physical disorder 10.0
31 xerophthalmia 10.0
32 bacterial infectious disease 10.0
33 sarcoma 10.0
34 keratoconjunctivitis sicca 10.0
35 polyneuropathy 10.0
36 autosomal dominant cerebellar ataxia 10.0
37 adenocarcinoma 10.0
38 allergic contact dermatitis 10.0
39 cellulitis 10.0
40 spindle cell sarcoma 10.0
41 folliculitis 10.0
42 end stage renal failure 10.0
43 peritonitis 10.0
44 cataract 10.0
45 vasculitis 10.0
46 myeloid leukemia 10.0
47 diabetes mellitus 10.0
48 otitis externa 10.0
49 anca-associated vasculitis 10.0
50 pure autonomic failure 10.0

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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
3 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
4 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
5 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
6 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
7 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
8 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
9 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
10 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
11 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
12 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
13 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
14 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
15 vestibular areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0008568
16 demyelinating peripheral neuropathy 59 32 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 35)
# 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
Heparin Approved, Investigational 9005-49-6 46507594 772
9
Fondaparinux Approved, Investigational 104993-28-4
10
Apixaban Approved 503612-47-3 10182969
11
Rivaroxaban Approved 366789-02-8
12
Dalteparin Approved 9005-49-6
13
Warfarin Approved 81-81-2 6691 54678486
14
Enoxaparin Approved 9005-49-6 772
15
Edoxaban Approved 480449-70-5
16
Canagliflozin Approved 842133-18-0
17
Serine Approved, Nutraceutical 56-45-1 5951
18
Dabigatran Investigational 211914-51-1
19 Antimalarials
20 Antiparasitic Agents
21 Antiprotozoal Agents
22 Anti-Infective Agents
23 Acidophilus
24 Fibrinolytic Agents
25 Antithrombin III
26 Heparin, Low-Molecular-Weight
27 Serine Proteinase Inhibitors
28 Factor Xa Inhibitors
29 Anticoagulants
30 calcium heparin
31 Antithrombins
32 PENTA
33 Dipeptidyl-Peptidase IV Inhibitors
34 HIV Protease Inhibitors
35
protease inhibitors

Interventional clinical trials:

(show all 27)
# 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 Treatment of Hypertensive Leg Ulcer by Adipose Tissue Grafting Unknown status NCT01932021
11 Comparison of Inextensible and Extensible Lumbosacral Orthoses for the Management of Episodes of Lower Back Pain Completed NCT01933399
12 Innovative Public-private Partnership to Target Subsidized Antimalarials in the Retail Sector Completed NCT02199977
13 Geriatric Inclusive Art: Effects of Painting Sessions on Older In-patients With Cognitive Decline Completed NCT03624387
14 Home Evaluation of Visual Exit Barriers in Dementia-related Wandering Completed NCT00997425
15 Effect of Probiotic Tablets and Topical Probiotic Oil (Lactobacillus. Reuteri) on Oral Wound Healing (Pilot Study) Completed NCT03210779
16 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
17 The Value of Integrating Visual Arts (VIVA): Evaluating the Benefits of Hospital Room Artwork on Inpatient Wellbeing Completed NCT02357160
18 Narrative Comprehension by People With Acquired Brain Injury Recruiting NCT03309930
19 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
20 Locating Nociceptive Stimuli Applied to the Lumbar Region in Healthy Subjects and in Subjects With Chronic Low Back Pain Recruiting NCT03463109
21 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
22 Testing Tele-Savvy, an On-line Psychoeducation Program for Dementia Family Caregivers Recruiting NCT03033875
23 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
24 Replication of Canagliflozin and Cardiovascular and Renal Events in Type 2 Diabetes (CANVAS Trial) Active, not recruiting NCT03936010 Canagliflozin;DPP-4 inhibitor
25 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
26 Increasing Provider Competence for Treating Stress-related Mental Health Conditions in Low Resource Settings Active, not recruiting NCT03602222
27 Development and Evaluation of ACT on Health: An Online Health Promotion Program Not yet recruiting NCT03932994

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:

41
Brain, Testes, Heart, Kidney

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? 38
31418719 2019
2
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. 38
31230722 2019
3
What Is Behind Cerebellar Vertigo and Dizziness? 38
30552638 2019
4
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). 38
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. 38
29696497 2018
6
Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family. 38
29628936 2018
7
Mathematical Methods for Measuring the Visually Enhanced Vestibulo-Ocular Reflex and Preliminary Results from Healthy Subjects and Patient Groups. 38
29483893 2018
8
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation. 38
26566912 2016
9
Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. 38
25130975 2015
10
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome. 38
25070514 2014
11
[Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) in an imbalance patient]. 38
23587257 2014
12
Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. 38
24682971 2014
13
CANVAS an update: clinical presentation, investigation and management. 38
25564090 2014
14
The treatment and natural course of peripheral and central vertigo. 38
24000301 2013
15
Peripheral vestibular disorders. 38
23254559 2013
16
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report. 38
21451431 2011
17
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. 38
21950986 2011
18
Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RFC1 RFC1, AAGGG(n) EXPANSION undetermined variant Pathogenic
2 RFC1 NC_000004.11 indel Pathogenic 4:39350045-39350099 :0-0
3 RFC1 NC_000004.11 indel Pathogenic 4:39350045-39350099 :0-0
4 ELF2 NM_001331036.2(ELF2): c.10G> A (p.Ala4Thr) single nucleotide variant Likely pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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