CANVAS
MCID: CRB196
MIFTS: 37

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

Categories: Genetic diseases, Neuronal 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 58 6 74
Canvas 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
adult onset (sixth decade)


HPO:

33
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

OMIM : 58 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)

MalaCards based summary : Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome, also known as canvas, is related to cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome and diabetes mellitus, 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 Canagliflozin and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and heart, and related phenotypes are dysarthria and gait ataxia

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 all 20)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 11.6
2 diabetes mellitus 10.3
3 ataxia and polyneuropathy, adult-onset 10.3
4 aceruloplasminemia 10.3
5 neuropathy 10.3
6 congestive heart failure 10.2
7 rere-related disorders 10.2
8 dermatitis 10.1
9 contact dermatitis 10.1
10 migraine with or without aura 1 9.9
11 keratoconus posticus circumscriptus 9.9
12 pancreatic cancer 9.9
13 lung cancer susceptibility 3 9.9
14 sarcoma 9.9
15 adenocarcinoma 9.9
16 allergic contact dermatitis 9.9
17 peritonitis 9.9
18 vasculitis 9.9
19 anca-associated vasculitis 9.9
20 spondyloenchondrodysplasia 9.9

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 gait ataxia 33 HP:0002066
3 limb ataxia 33 HP:0002070
4 hyporeflexia 33 HP:0001265
5 cerebellar atrophy 33 HP:0001272
6 vestibular areflexia 33 HP:0008568
7 postural instability 33 HP:0002172
8 axonal loss 33 HP:0003447
9 gaze-evoked nystagmus 33 HP:0000640
10 positive romberg sign 33 HP:0002403
11 impaired horizontal smooth pursuit 33 HP:0001151

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar atrophy
positive romberg sign
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
sural nerve biopsy shows axonal loss
peripheral neuropathy, sensory
sensory impairment, non length-dependent
decreased or absent sensory nerve action potentials, upper and lower limbs

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

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 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Canagliflozin Approved Phase 4,Phase 3 842133-18-0
2
Methyltestosterone Approved Phase 4,Phase 3 58-18-4 6010
3
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3 5949-44-0
4
Testosterone Approved, Experimental, Investigational Phase 4,Phase 3 58-22-0, 481-30-1 10204 6013
5
Testosterone enanthate Approved Phase 4,Phase 3 315-37-7 9416
6 Hypoglycemic Agents Phase 4,Phase 3
7 Sodium-Glucose Transporter 2 Inhibitors Phase 4,Phase 3
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
9 Testosterone 17 beta-cypionate Phase 4,Phase 3
10 Antineoplastic Agents, Hormonal Phase 4,Phase 3
11 Hormone Antagonists Phase 4,Phase 3
12 Anabolic Agents Phase 4,Phase 3
13 Androgens Phase 4,Phase 3
14 Hormones Phase 4,Phase 3
15 Vaccines Phase 4
16 Immunologic Factors Phase 4
17
Lisinopril Approved, Investigational Phase 2 83915-83-7, 76547-98-3 5362119
18
Simethicone Approved Phase 2 8050-81-5
19
Altretamine Approved Phase 2 645-05-6 2123
20 Anti-Infective Agents Phase 2,Not Applicable
21 valacyclovir Phase 2
22 Antiviral Agents Phase 2
23 HIV Protease Inhibitors Phase 2,Not Applicable
24
protease inhibitors Phase 2,Not Applicable
25 Angiotensin-Converting Enzyme Inhibitors Phase 2
26 Cardiotonic Agents Phase 2
27 Endothelin Receptor Antagonists Phase 2
28 Antihypertensive Agents Phase 2
29 Protective Agents Phase 2
30
Ethylene Phase 1 74-85-1 6325
31
Warfarin Approved Not Applicable 81-81-2 54678486 6691
32
Enoxaparin Approved Not Applicable 9005-49-6 772
33
Dalteparin Approved Not Applicable 9005-49-6
34
Rivaroxaban Approved Not Applicable 366789-02-8
35
Edoxaban Approved Not Applicable 480449-70-5
36
Fondaparinux Approved, Investigational Not Applicable 104993-28-4
37
Apixaban Approved Not Applicable 503612-47-3 10182969
38
Heparin Approved, Investigational Not Applicable 9005-49-6 46507594 772
39
tannic acid Approved Not Applicable 1401-55-4
40
Remifentanil Approved Not Applicable 132875-61-7 60815
41
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
42
Rocuronium Approved Not Applicable 119302-91-9, 143558-00-3 441290
43
Propofol Approved, Investigational, Vet_approved Not Applicable 2078-54-8 4943
44
Dexmedetomidine Approved, Vet_approved Not Applicable 113775-47-6 5311068 68602
45
Tramadol Approved, Investigational Not Applicable 27203-92-5 33741
46
Serine Approved, Nutraceutical Not Applicable 56-45-1 5951
47
Dabigatran Investigational Not Applicable 211914-51-1
48 Antimalarials Not Applicable
49 Antiparasitic Agents Not Applicable
50 Antiprotozoal Agents Not Applicable

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 A Study of the Effects of Canagliflozin (JNJ-28431754) on Renal Endpoints in Adult Participants With Type 2 Diabetes Mellitus Completed NCT01989754 Phase 4 Placebo;Canagliflozin, 100 mg;Canagliflozin, 300 mg
2 Testosterone Replacement in Older Men and Atherosclerosis Progression Completed NCT00287586 Phase 4 Testosterone Gel (Androgel);Placebo
3 Pharmacists as Immunizers to Improve Coverage and Provider/Recipient Satisfaction Active, not recruiting NCT02868970 Phase 4
4 CANVAS - CANagliflozin cardioVascular Assessment Study Completed NCT01032629 Phase 3 Placebo;Canagliflozin (JNJ-28431754) 100 mg;Canagliflozin (JNJ-28431754) 300 mg
5 Maggot Therapy for Wound Debridement Completed NCT01211236 Phase 3
6 Optimizing Protein Intake in Older Americans With Mobility Limitations Completed NCT01275365 Phase 3 Testosterone enanthate;Testosterone enanthate
7 Study of Tozuleristide and the Canvas Imaging System in Pediatric Subjects With CNS Tumors Undergoing Surgery Recruiting NCT03579602 Phase 2, Phase 3 tozuleristide
8 Study to Assess the Long Term Safety and Tolerability of ACT-541468 in Adult and Elderly Subjects Suffering From Difficulties to Sleep Recruiting NCT03679884 Phase 3 ACT-541468 10 mg;ACT-541468 25 mg;ACT-541468 50 mg;Placebo
9 Study to Assess the Efficacy and Safety of ACT-541468 in Adult and Elderly Subjects With Insomnia Disorder Recruiting NCT03545191 Phase 3 ACT-541468
10 A Research Study to Show the Effect of Aprocitentan in the Treatment of Difficult to Control (Resistant) High Blood Pressure (Hypertension) and Find Out More About Its Safety Recruiting NCT03541174 Phase 3 Aprocitentan 12.5 mg;Aprocitentan 25 mg;Placebo
11 CMV Modulation of the Immune System in ANCA-associated Vasculitis Unknown status NCT01633476 Phase 2 Valaciclovir
12 Clinical Study to Explore the Effects of Actelion's Latest Endothelin Receptor Antagonist (ERA) - at Different Dose Strengths - on the Efficacy, Safety and Tolerability in Subjects With Essential Hypertension Completed NCT02603809 Phase 2 ACT-132577;Lisinopril
13 Cvac as Maintenance Treatment in Patients With Epithelial Ovarian Cancer in Complete Remission Following First-line Chemotherapy or Second-line Treatment Terminated NCT01521143 Phase 2
14 Effect of Footwear on the Clinical, Functional, and Biomechanical Aspects in Elderly Women With Knee Osteoarthritis (OA) Completed NCT01342458 Phase 1
15 Treatment of Hypertensive Leg Ulcer by Adipose Tissue Grafting Unknown status NCT01932021 Not Applicable
16 Study to Test Whether Shoes Protect Children Against Hookworm Infection on Pemba Island, Zanzibar Completed NCT01869127 Not Applicable
17 Innovative Public-private Partnership to Target Subsidized Antimalarials in the Retail Sector Completed NCT02199977 Not Applicable
18 Geriatric Inclusive Art: Effects of Painting Sessions on Older In-patients With Cognitive Decline Completed NCT03624387 Not Applicable
19 Home Evaluation of Exit Barriers in Wandering Completed NCT00997425 Not Applicable
20 Comparison of Extensible and Inextensible Lumbosacral Orthoses for Lower Back Pain Completed NCT01933399 Not Applicable
21 Direct Oral Anticoagulants (DOACs) Versus LMWH +/- Warfarin for VTE in Cancer Recruiting NCT02744092 Not Applicable Rivaroxaban;Apixaban;Edoxaban;Dabigatran;Warfarin;Dalteparin;Enoxaparin;Fondaparinux
22 Impact of Anesthesia Type on Outcome in Patients With Acute Ischemic Stroke (AIS) Undergoing Endovascular Treatment Recruiting NCT02677415 Not Applicable
23 Choice of Anesthesia for Endovascular Treatment of Acute Ischemic Stroke in Posterior Circulation Recruiting NCT03317535 Not Applicable
24 Improving Family Quality of Life Through Training to Reduce Care-Resistant Behaviors by People With AD and TBI Recruiting NCT03734289 Not Applicable
25 Subacute Low Back Pain in Active Duty Recruiting NCT03502187 Not Applicable
26 Testing Tele-Savvy, an On-line Psychoeducation Program for Dementia Family Caregivers Recruiting NCT03033875 Not Applicable
27 Replication of the CANVAS Diabetes Trial in Healthcare Claims Active, not recruiting NCT03936010 Canagliflozin;DPP-4 inhibitor
28 Cognition And Neocortical Volume After Stroke Active, not recruiting NCT02205424
29 Evaluation of the ACT on Health Program Not yet recruiting NCT03932994 Not Applicable

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

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:

42
Skin, Testes, Heart, Lung, Eye

Publications for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

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

(show top 50) (show all 137)
# Title Authors Year
1
Letter by Koh Regarding Article, "Canagliflozin and Heart Failure in Type 2 Diabetes Mellitus: Results From the CANVAS Program (Canagliflozin Cardiovascular Assessment Study)". ( 30640544 )
2019
2
Response by Figtree et al to Letter Regarding Article, "Canagliflozin and Heart Failure in Type 2 Diabetes Mellitus: Results From the CANVAS Program (Canagliflozin Cardiovascular Assessment Study)". ( 30640545 )
2019
3
Economic modelling of costs associated with outcomes reported for type 2 diabetes mellitus (T2DM) patients in the CANVAS and EMPA-REG cardiovascular outcomes trials. ( 30575426 )
2019
4
Application of microemulsions for the removal of synthetic resins from paintings on canvas. ( 27771968 )
2019
5
A Dark Spot on a White Canvas: Thoughts on Being a Black Academic Psychiatrist. ( 30701429 )
2019
6
Padlet: A Digital Canvas. ( 30768536 )
2019
7
Effects of canagliflozin on amputation risk in type 2 diabetes: the CANVAS Program. ( 30868176 )
2019
8
Effects of Canagliflozin on Heart Failure Outcomes Associated with Preserved and Reduced Ejection Fraction in Type 2 Diabetes: Results from the CANVAS Program. ( 30882240 )
2019
9
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. ( 30926972 )
2019
10
Allergic contact dermatitis caused by dimethylthiocarbamylbenzothiazole sulfide (DMTBS) in canvas shoes: in search of the culprit allergen. ( 28776709 )
2018
11
Contact dermatitis caused by a new rubber compound detected in canvas shoes. ( 29044554 )
2018
12
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres. ( 29696497 )
2018
13
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). ( 29089158 )
2018
14
Post-operative peritonitis due to a KPC-producing Klebsiella pneumoniae: the canvas of antibiotic resistance. ( 30374375 )
2018
15
Physiology of biodeterioration on canvas paintings. ( 28688195 )
2018
16
Canvas SPW: calling de novo copy number variants in pedigrees. ( 29028893 )
2018
17
Canagliflozin for Primary and Secondary Prevention of Cardiovascular Events: Results From the CANVAS Program (Canagliflozin Cardiovascular Assessment Study). ( 29133604 )
2018
18
Cardiovascular outcomes with canagliflozin - is it on the CANVAS? ( 29251018 )
2018
19
Normal tendon reflexes despite absent sensory nerve action potentials in CANVAS: a neurophysiological study. ( 29571876 )
2018
20
Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family. ( 29628936 )
2018
21
An Empty Frame: What Canvas Will You Put in It? ( 29746234 )
2018
22
Instability in Patients with CANVAS: Can Computerized Dynamic Posturography Help in Diagnosis? ( 29764786 )
2018
23
Canagliflozin and renal outcomes in type 2 diabetes: results from the CANVAS Program randomised clinical trials. ( 29937267 )
2018
24
Blank Canvas: The Case for Descriptive Taxonomy. ( 29939233 )
2018
25
Versatile Identification of Copy Number Variants with Canvas. ( 30039371 )
2018
26
Evaluation of the Adhesion and Performance of Natural Consolidants for Cotton Canvas Conservation. ( 30149696 )
2018
27
Canagliflozin and Cardiovascular disease- results of the CANVAS trial. ( 30357039 )
2018
28
Implications of the CANVAS Study in Reducing Cardiovascular Outcomes. ( 30397837 )
2018
29
Editorial overview: Embroidering the canvas of life. ( 30470343 )
2018
30
Choice of ANesthesia for EndoVAScular Treatment of Acute Ischemic Stroke (CANVAS): Results of the CANVAS Pilot Randomized Controlled Trial. ( 30531556 )
2018
31
Nature's Canvas: An Infant With Stripes and Whorls. ( 30578050 )
2018
32
Cardiorenal Outcomes in the CANVAS, DECLARE-TIMI 58, and EMPA-REG OUTCOME Trials: A Systematic Review. ( 31032602 )
2018
33
VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS). ( 28566187 )
2017
34
Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS). ( 27859440 )
2017
35
Creating a lung adenocarcinoma canvas, one brush stroke at a time. ( 28800890 )
2017
36
Removal of Canvas Patterns in Digital Acquisitions of Paintings. ( 28113181 )
2017
37
Rationale, design and baseline characteristics of the CANagliflozin cardioVascular Assessment Study-Renal (CANVAS-R): A randomized, placebo-controlled trial. ( 28120497 )
2017
38
Optimizing the analysis strategy for the CANVAS Program: A prespecified plan for the integrated analyses of the CANVAS and CANVAS-R trials. ( 28244644 )
2017
39
Choice of ANesthesia for EndoVAScular Treatment of Acute Ischemic Stroke: Protocol for a randomized controlled (CANVAS) trial. ( 28436307 )
2017
40
Coloring by Number? Core Outcome Measures and the Canvas of Intensive Care Unit Survivorship. ( 28699762 )
2017
41
Putting LGBTQ people back on the canvas of history. ( 28745596 )
2017
42
mzStudio: A Dynamic Digital Canvas for User-Driven Interrogation of Mass Spectrometry Data. ( 28763045 )
2017
43
Diabetes mellitus: Cardiovascular and renal benefits of SGLT2 inhibition: insights from CANVAS. ( 28781373 )
2017
44
SGLT2 Inhibitors Through the Windows of EMPA-REG and CANVAS Trials: A Review. ( 29076040 )
2017
45
Sweat Gland Denervation in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS). ( 30363403 )
2017
46
Valaciclovir to prevent Cytomegalovirus mediated adverse modulation of the immune system in ANCA-associated vasculitis (CANVAS): study protocol for a randomised controlled trial. ( 27450392 )
2016
47
Isolated Vestibular Suppression Impairment With Vestibular Migraine: A Phenotypic CANVAS Variant. ( 26808556 )
2016
48
Sensory Neuronopathy in CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia. ( 26837948 )
2016
49
Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). ( 26918204 )
2016
50
Flipping one-shot library instruction: using Canvas and Pecha Kucha for peer teaching. ( 27076799 )
2016

Variations for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELF2 NM_201999.2(ELF2): c.10G> A (p.Ala4Thr) single nucleotide variant Likely pathogenic rs747574524 GRCh38 Chromosome 4, 139137692: 139137692
2 ELF2 NM_201999.2(ELF2): c.10G> A (p.Ala4Thr) single nucleotide variant Likely pathogenic rs747574524 GRCh37 Chromosome 4, 140058846: 140058846
3 RFC1 RFC1, AAGGG(n) EXPANSION undetermined variant Pathogenic
4 RFC1 NC_000004.11 indel Pathogenic GRCh37 Chromosome 4, 39350045: 39350099
5 RFC1 NC_000004.11 indel Pathogenic GRCh37 Chromosome 4, 39350045: 39350099

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 8.62 ELF2 RFC1

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 ELF2 RFC1

Sources for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

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