MCID: CRB196
MIFTS: 34

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Categories: 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 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 ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia, cerebellar ataxia and imbalance. An important gene associated with Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome is ELF2 (E74 Like ETS Transcription Factor 2). The drugs Canagliflozin and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, 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 ataxia and polyneuropathy, adult-onset 10.3
3 diabetes mellitus 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 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Canagliflozin Approved Phase 4,Phase 3 842133-18-0
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
4
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 6013 10204
5
Testosterone enanthate Approved Phase 4 315-37-7 9416
6 Hypoglycemic Agents Phase 4,Phase 3
7 Sodium-Glucose Transporter 2 Inhibitors Phase 4,Phase 3
8 Testosterone 17 beta-cypionate Phase 4
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
10 Antineoplastic Agents, Hormonal Phase 4
11 Hormone Antagonists Phase 4
12 Anabolic Agents Phase 4
13 Androgens Phase 4
14 Hormones Phase 4
15 Vaccines Phase 4
16 Immunologic Factors Phase 4
17
Lisinopril Approved, Investigational Phase 2 83915-83-7, 76547-98-3 5362119
18
Altretamine Approved Phase 2 645-05-6 2123
19
Simethicone Approved Phase 2 8050-81-5
20 Antiviral Agents Phase 2
21 valacyclovir Phase 2
22 Anti-Infective Agents Phase 2,Not Applicable
23
protease inhibitors Phase 2,Not Applicable
24 Angiotensin-Converting Enzyme Inhibitors Phase 2
25 HIV Protease Inhibitors Phase 2,Not Applicable
26 Protective Agents Phase 2
27 Antihypertensive Agents Phase 2
28 Endothelin Receptor Antagonists Phase 2
29 Cardiotonic Agents Phase 2
30
Ethylene Phase 1 74-85-1 6325
31
Dalteparin Approved Not Applicable 9005-49-6
32
Warfarin Approved Not Applicable 81-81-2 6691 54678486
33
Enoxaparin Approved Not Applicable 9005-49-6 772
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 9005-49-6 772 46507594
39
tannic acid Approved Not Applicable 1401-55-4
40
Remifentanil Approved Not Applicable 132875-61-7 60815
41
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 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 68602 5311068
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 Antiprotozoal Agents Not Applicable
50 Antiparasitic Agents Not Applicable

Interventional clinical trials:

(show all 26)
# 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 Study of Tozuleristide and the Canvas Imaging System in Pediatric Subjects With CNS Tumors Undergoing Surgery Recruiting NCT03579602 Phase 2, Phase 3 tozuleristide
7 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
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 CMV Modulation of the Immune System in ANCA-associated Vasculitis Unknown status NCT01633476 Phase 2 Valaciclovir
11 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
12 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
13 Effect of Footwear on the Clinical, Functional, and Biomechanical Aspects in Elderly Women With Knee Osteoarthritis (OA) Completed NCT01342458 Phase 1
14 Treatment of Hypertensive Leg Ulcer by Adipose Tissue Grafting Unknown status NCT01932021 Not Applicable
15 Study to Test Whether Shoes Protect Children Against Hookworm Infection on Pemba Island, Zanzibar Completed NCT01869127 Not Applicable
16 Innovative Public-private Partnership to Target Subsidized Antimalarials in the Retail Sector Completed NCT02199977 Not Applicable
17 Geriatric Inclusive Art: Effects of Painting Sessions on Older In-patients With Cognitive Decline Completed NCT03624387 Not Applicable
18 Home Evaluation of Exit Barriers in Wandering Completed NCT00997425 Not Applicable
19 Comparison of Extensible and Inextensible Lumbosacral Orthoses for Lower Back Pain Completed NCT01933399 Not Applicable
20 Direct Oral Anticoagulants (DOACs) Versus LMWH +/- Warfarin for VTE in Cancer Recruiting NCT02744092 Not Applicable Rivaroxaban;Apixaban;Edoxaban;Dabigatran;Warfarin;Dalteparin;Enoxaparin;Fondaparinux
21 Impact of Anesthesia Type on Outcome in Patients With Acute Ischemic Stroke (AIS) Undergoing Endovascular Treatment Recruiting NCT02677415 Not Applicable
22 Choice of Anesthesia for Endovascular Treatment of Acute Ischemic Stroke in Posterior Circulation Recruiting NCT03317535 Not Applicable
23 Improving Family Quality of Life Through Training to Reduce Care-Resistant Behaviors by People With AD and TBI Recruiting NCT03734289 Not Applicable
24 Subacute Low Back Pain in Active Duty Recruiting NCT03502187 Not Applicable
25 Testing Tele-Savvy, an On-line Psychoeducation Program for Dementia Family Caregivers Recruiting NCT03033875 Not Applicable
26 Cognition And Neocortical Volume After Stroke Active, not recruiting NCT02205424

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, Eye, Heart, Lung

Publications for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

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

(show top 50) (show all 124)
# 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
A Dark Spot on a White Canvas: Thoughts on Being a Black Academic Psychiatrist. ( 30701429 )
2019
5
Padlet: A Digital Canvas. ( 30768536 )
2019
6
Effects of canagliflozin on amputation risk in type 2 diabetes: the CANVAS Program. ( 30868176 )
2019
7
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
8
Contact dermatitis caused by a new rubber compound detected in canvas shoes. ( 29044554 )
2018
9
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
10
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). ( 29089158 )
2018
11
Post-operative peritonitis due to a KPC-producing Klebsiella pneumoniae: the canvas of antibiotic resistance. ( 30374375 )
2018
12
Versatile Identification of Copy Number Variants with Canvas. ( 30039371 )
2018
13
Evaluation of the Adhesion and Performance of Natural Consolidants for Cotton Canvas Conservation. ( 30149696 )
2018
14
Canagliflozin and Cardiovascular disease- results of the CANVAS trial. ( 30357039 )
2018
15
Implications of the CANVAS Study in Reducing Cardiovascular Outcomes. ( 30397837 )
2018
16
Editorial overview: Embroidering the canvas of life. ( 30470343 )
2018
17
Choice of ANesthesia for EndoVAScular Treatment of Acute Ischemic Stroke (CANVAS): Results of the CANVAS Pilot Randomized Controlled Trial. ( 30531556 )
2018
18
Nature's Canvas: An Infant With Stripes and Whorls. ( 30578050 )
2018
19
Physiology of biodeterioration on canvas paintings. ( 28688195 )
2018
20
Canvas SPW: calling de novo copy number variants in pedigrees. ( 29028893 )
2018
21
Canagliflozin for Primary and Secondary Prevention of Cardiovascular Events: Results From the CANVAS Program (Canagliflozin Cardiovascular Assessment Study). ( 29133604 )
2018
22
Cardiovascular outcomes with canagliflozin - is it on the CANVAS? ( 29251018 )
2018
23
Normal tendon reflexes despite absent sensory nerve action potentials in CANVAS: a neurophysiological study. ( 29571876 )
2018
24
Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family. ( 29628936 )
2018
25
An Empty Frame: What Canvas Will You Put in It? ( 29746234 )
2018
26
Instability in Patients with CANVAS: Can Computerized Dynamic Posturography Help in Diagnosis? ( 29764786 )
2018
27
Canagliflozin and renal outcomes in type 2 diabetes: results from the CANVAS Program randomised clinical trials. ( 29937267 )
2018
28
Blank Canvas: The Case for Descriptive Taxonomy. ( 29939233 )
2018
29
Creating a lung adenocarcinoma canvas, one brush stroke at a time. ( 28800890 )
2017
30
Removal of Canvas Patterns in Digital Acquisitions of Paintings. ( 28113181 )
2017
31
Rationale, design and baseline characteristics of the CANagliflozin cardioVascular Assessment Study-Renal (CANVAS-R): A randomized, placebo-controlled trial. ( 28120497 )
2017
32
Optimizing the analysis strategy for the CANVAS Program: A prespecified plan for the integrated analyses of the CANVAS and CANVAS-R trials. ( 28244644 )
2017
33
Choice of ANesthesia for EndoVAScular Treatment of Acute Ischemic Stroke: Protocol for a randomized controlled (CANVAS) trial. ( 28436307 )
2017
34
Coloring by Number? Core Outcome Measures and the Canvas of Intensive Care Unit Survivorship. ( 28699762 )
2017
35
Putting LGBTQ people back on the canvas of history. ( 28745596 )
2017
36
mzStudio: A Dynamic Digital Canvas for User-Driven Interrogation of Mass Spectrometry Data. ( 28763045 )
2017
37
Diabetes mellitus: Cardiovascular and renal benefits of SGLT2 inhibition: insights from CANVAS. ( 28781373 )
2017
38
SGLT2 Inhibitors Through the Windows of EMPA-REG and CANVAS Trials: A Review. ( 29076040 )
2017
39
Sweat Gland Denervation in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS). ( 30363403 )
2017
40
Isolated Vestibular Suppression Impairment With Vestibular Migraine: A Phenotypic CANVAS Variant. ( 26808556 )
2016
41
Sensory Neuronopathy in CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia. ( 26837948 )
2016
42
Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). ( 26918204 )
2016
43
Flipping one-shot library instruction: using Canvas and Pecha Kucha for peer teaching. ( 27076799 )
2016
44
PHYSICS. Painting magnetism on a canvas of graphene. ( 27102468 )
2016
45
Designing a Model of a Digital Ecosystem for Healthcare and Wellness Using the Business Model Canvas. ( 27118010 )
2016
46
Canvas: versatile and scalable detection of copy number variants. ( 27153601 )
2016
47
Chasing Therapeutic Targets in Thymic Malignancies: Finding Needles in the Haystack to Frame a Comprehensive Canvas? ( 27453162 )
2016
48
From Blank Canvas to Masterwork: Creating a Professional Practice Model at a Magnet Hospital. ( 28097022 )
2016
49
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation. ( 26566912 )
2015
50
Development and deployment of the Computer Assisted Neighborhood Visual Assessment System (CANVAS) to measure health-related neighborhood conditions. ( 25545769 )
2015

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

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

Sources for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

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10 dbSNP
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