CANVAS
MCID: CRB196
MIFTS: 47

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

Categories: Genetic diseases, Neuronal diseases, Rare diseases
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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 73 71
Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 58 28 5
Canvas 57 58 73
Ataxia, Cerebellar, Neuropathy, and Vestibular Areflexia Syndrome 38
Cerebellar Ataxia with Bilateral Vestibulopathy Syndrome 58
Cabv Syndrome 58

Characteristics:


Inheritance:

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: Autosomal recessive 57
Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome: Autosomal recessive 58

Prevelance:

Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome: Adult,Elderly 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
slowly progressive
adult onset (mean 54 years)


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Orphanet: 58 A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.

MalaCards based summary: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome, also known as cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, is related to aceruloplasminemia and neuropathy, and has symptoms including cerebellar ataxia, gait ataxia and imbalance. An important gene associated with Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome is RFC1 (Replication Factor C Subunit 1), and among its related pathways/superpathways is Assembly of the pre-replicative complex. The drugs Canagliflozin and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are dysarthria and delayed speech and language development

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 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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 102)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 10.7
2 neuropathy 10.7
3 sensory peripheral neuropathy 10.6
4 cerebellar disease 10.3
5 vestibular disease 10.3
6 axonal neuropathy 10.3
7 pathologic nystagmus 10.3
8 rfc1 canvas / spectrum disorder 10.3
9 swallowing disorders 10.3
10 type 2 diabetes mellitus 10.3
11 diabetes mellitus 10.2
12 stroke, ischemic 10.2
13 end stage renal disease 10.1
14 oto-palatal-digital syndrome 10.1
15 dysautonomia 10.1
16 neurodegeneration with brain iron accumulation 2a 10.0
17 arts syndrome 10.0
18 diarrhea 10.0
19 vascular disease 10.0
20 machado-joseph disease 9.9
21 migraine with or without aura 1 9.9
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9
23 friedreich ataxia 9.9
24 leprosy 3 9.9
25 peripheral vascular disease 9.9
26 hereditary ataxia 9.9
27 parkinsonism 9.9
28 autosomal dominant cerebellar ataxia 9.9
29 dermatitis 9.9
30 contact dermatitis 9.9
31 vasculitis 9.9
32 49, xxxxy syndrome 9.9
33 49,xxxxx syndrome 9.9
34 anca-associated vasculitis 9.9
35 pure autonomic failure 9.9
36 paresthesia 9.9
37 polyploidy 9.9
38 49,xyyyy syndrome 9.9
39 hepatocellular carcinoma 9.8
40 coloboma of macula 9.8
41 dementia, lewy body 9.8
42 multiple system atrophy 1 9.8
43 oculodentodigital dysplasia 9.8
44 parkinson disease, late-onset 9.8
45 aplasia of lacrimal and salivary glands 9.8
46 pancreatic cancer 9.8
47 rhabdomyosarcoma 2 9.8
48 sjogren syndrome 9.8
49 toe syndactyly, telecanthus, and anogenital and renal malformations 9.8
50 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8

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 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001260
2 delayed speech and language development 58 30 Frequent (33%) Frequent (79-30%)
HP:0000750
3 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
4 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
5 multiple joint contractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002828
6 areflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001284
7 dysmetria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001310
8 dysdiadochokinesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002075
9 gait ataxia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002066
10 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
11 distal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002460
12 vestibular areflexia 58 30 Very rare (1%) Frequent (79-30%)
HP:0008568
13 demyelinating peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007108
14 intention tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002080
15 progressive cerebellar ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002073
16 sensorimotor neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007141
17 cough 30 Very rare (1%) HP:0012735
18 peripheral neuropathy 30 Very rare (1%) HP:0009830
19 hyporeflexia 30 Very rare (1%) HP:0001265
20 cerebellar vermis atrophy 30 Very rare (1%) HP:0006855
21 abnormal rapid eye movement sleep 30 Very rare (1%) HP:0002494
22 limb ataxia 30 Very rare (1%) HP:0002070
23 abnormal autonomic nervous system physiology 30 Very rare (1%) HP:0012332
24 downbeat nystagmus 30 Very rare (1%) HP:0010545
25 decreased distal sensory nerve action potential 30 Very rare (1%) HP:0007230
26 positive romberg sign 30 HP:0002403
27 cerebellar atrophy 30 HP:0001272
28 postural instability 30 HP:0002172
29 axonal loss 30 HP:0003447
30 gaze-evoked nystagmus 30 HP:0000640
31 impaired horizontal smooth pursuit 30 HP:0001151

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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


cerebellar ataxia; gait 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 all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Canagliflozin Approved 842133-18-0 74323022 24812758
2
Rocuronium Approved 119302-91-9, 143558-00-3 441290
3
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
4
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
5
Tannic acid Approved 1401-55-4 16129878 16129778
6
Remifentanil Approved 132875-61-7 60815
7
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
8
Dabigatran Approved, Investigational 211914-51-1 216210
9
Rivaroxaban Approved 366789-02-8 9875401
10
Fondaparinux Approved, Investigational 114870-03-0, 104993-28-4 5282448 636380
11
Edoxaban Approved 480449-70-5 11635624 10280735
12
Apixaban Approved 503612-47-3 10182969
13
Warfarin Approved 81-81-2, 129-06-6 54678486
14
Reviparin Approved, Investigational 9041-08-1
15 Sodium-Glucose Transporter 2 Inhibitors
16 Hypoglycemic Agents
17 Dipeptidyl-Peptidase IV Inhibitors
18 Anesthetics
19
protease inhibitors
20 HIV Protease Inhibitors
21 Heparin, Low-Molecular-Weight
22 Factor Xa Inhibitors
23 Fibrinolytic Agents
24 Serine Proteinase Inhibitors
25 Calcium heparin
26 Antithrombins
27 Antithrombin III
28 Anticoagulants
29 PENTA
30
Serine Investigational, Nutraceutical 56-45-1 5951

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Blinded Study of Fluorescence Detection of Pediatric Primary Central Nervous System Tumors in Subjects Receiving Tozuleristide and Imaged With the Canvas System Active, not recruiting NCT03579602 Phase 2, Phase 3 tozuleristide
2 A Phase 2 Study of Fluorescence Detection of Adult Primary Central Nervous System Tumors in Subjects Receiving Tozuleristide and Imaged With the Canvas System Active, not recruiting NCT04743310 Phase 2 tozuleristide
3 Replication of Canagliflozin and Cardiovascular and Renal Events in Type 2 Diabetes (CANVAS Trial) Unknown status NCT03936010 Canagliflozin;DPP-4 inhibitor
4 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
5 Evaluation of the Peripheral Nerve Ultrasound as a Diagnostic Tool in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) Neuronopathies Completed NCT05095870
6 Is Stroke Neurodegenerative? A Longitudinal Study of Brain Volume and Cognitive Decline Following Stroke (CANVAS: Cognition And Neocortical Volume After Stroke). Completed NCT02205424
7 Chronic Cough and CANVAS (Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome): Screening for Mutations in Subunit 1 of the Replication Factor Complex: Initial Pilot Study Recruiting NCT04703595
8 Choice of Anesthesia for Endovascular Treatment of Acute Ischemic Stroke in Posterior Circulation: a Randomized Controlled Exploratory Study (CANVAS-Ⅱ) Recruiting NCT03317535
9 Evaluation of the Diagnostic Value of Video-oculography in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) Neuronopathies Recruiting NCT05278091
10 Direct Oral Anticoagulants (DOACs) Versus LMWH +/- Warfarin for VTE in Cancer: A Randomized Effectiveness Trial (CANVAS Trial) Active, not recruiting NCT02744092 Rivaroxaban;Apixaban;Edoxaban;Dabigatran;Warfarin;Dalteparin;Enoxaparin;Fondaparinux

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

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

Genetic tests related to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 28 RFC1

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

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

MalaCards : Brain, Eye, Heart, Skin, Kidney, Spinal Cord, Bone

Publications for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

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

(show top 50) (show all 1031)
# Title Authors PMID Year
1
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. 62 57 5
32851396 2020
2
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 62 57 5
30926972 2019
3
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. 62 57
21950986 2011
4
Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. 57
14607788 2004
5
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia. 62
35864213 2022
6
Sodium Glucose Cotransporter 2 Inhibitors, Amputation Risk, and Fracture Risk. 62
36216493 2022
7
Inside the Michelangelo effect: The role of art and aesthetic attractiveness on perceived fatigue and hand kinematics in virtual painting. 62
36168965 2022
8
Mechanisms of action of the sodium-glucose cotransporter-2 (SGLT2) inhibitor canagliflozin on tubular inflammation and damage: A post hoc mediation analysis of the CANVAS trial. 62
35635326 2022
9
Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease. 62
36088850 2022
10
Canagliflozin and atrial fibrillation in type 2 diabetes mellitus: A secondary analysis from the CANVAS Program and CREDENCE trial and meta-analysis. 62
35589614 2022
11
Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype. 62
36252335 2022
12
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis. 62
35633373 2022
13
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series. 62
35587277 2022
14
RFC1-Related Disease: Molecular and Clinical Insights. 62
36046423 2022
15
Sensory neuronopathies, diagnostic criteria and causes. 62
35950727 2022
16
New CANVAS cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene. 62
36250766 2022
17
Standardization of Artificial Intelligence Development in Radiotherapy. 62
36202443 2022
18
Evaluating education innovations rapidly with build-measure-learn: Applying lean startup to health professions education. 62
36170876 2022
19
Initiation of the SGLT2 inhibitor canagliflozin to prevent kidney and heart failure outcomes guided by HbA1c, albuminuria, and predicted risk of kidney failure. 62
36151557 2022
20
MsVRL: Self-supervised Multi-scale Visual Representation Learning via Cross-level Consistency for Medical Image Segmentation. 62
36063521 2022
21
Is there a paradigm shift in preventing diabetic heart failure? A review of SGLT2 inhibitors. 62
33331740 2022
22
Cortical thinning 3 years after ischaemic stroke is associated with cognitive impairment and APOE ε4. 62
36116165 2022
23
Metrological Evaluation of the Demosaicking Effect on Colour Digital Image Correlation with Application in Monitoring of Paintings. 62
36236458 2022
24
A BCI painting system using a hybrid control approach based on SSVEP and P300. 62
36166987 2022
25
The Effect of Selected Factors on the Strength of Stitches of Upholstery Faux Leather. 62
36233925 2022
26
Identification and Screening of Novel Anti-Cancer Compounds for Aurora Kinase-A from Chemical Database. 62
36138546 2022
27
Edward Spitzka's 1883 Textbook: The Psychiatric Nosology That Kraepelin Inherited and Transformed. 62
36095305 2022
28
Scalable Scalable Vector Graphics: Automatic Translation of Interactive SVGs to a Multithread VDOM for Fast Rendering. 62
33587700 2022
29
The inherited cerebellar ataxias: an update. 62
36152050 2022
30
General Anesthesia vs Conscious Sedation for Endovascular Treatment in Patients With Posterior Circulation Acute Ischemic Stroke: An Exploratory Randomized Clinical Trial. 62
36156704 2022
31
Impact of breakthrough trials on prescription trends of sodium-glucose cotransporter-2 inhibitors in Japan: An interrupted time-series analysis. 62
36068684 2022
32
Poststroke White Matter Hyperintensities and Physical Activity: A CANVAS Study Exploratory Analysis. 62
35482768 2022
33
CANVAS: Unreported Imaging of Selective Vestibular Nerve Atrophy on Magnetic Resonance Imaging. 62
36075091 2022
34
Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism. 62
36177974 2022
35
Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis? 62
36155842 2022
36
An international clinician survey CompAring Nonabsorbable Vs. Absorbable sutures for Skin surgery: the CANVAS study. 62
35191028 2022
37
Canagliflozin, mental health adverse events and diabetes: Exploratory analysis of the CREDENCE trial and CANVAS Program. 62
35938182 2022
38
The corticotroph cells from early development to tumorigenesis. 62
35524583 2022
39
The complexity landscape of viral genomes. 62
35950839 2022
40
Safety of COVID-19 vaccines in pregnancy: a Canadian National Vaccine Safety (CANVAS) network cohort study. 62
35964614 2022
41
Molecular dynamics simulations of an α-synuclein NAC domain fragment with a ff14IDPSFF IDP-specific force field suggest β-sheet intermediate states of fibrillation. 62
35912724 2022
42
Interleukin-6 and Cardiovascular and Kidney Outcomes in Patients With Type 2 Diabetes: New Insights From CANVAS. 62
36134918 2022
43
Fasting Substrate Concentrations Predict Cardiovascular Outcomes in the CANagliflozin cardioVascular Assessment Study (CANVAS). 62
35724306 2022
44
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features. 62
34101140 2022
45
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment. 62
36009593 2022
46
Hypertrophic pachymeningitis in ANCA-associated vasculitis: a cross-sectional and multi-institutional study in Japan (J-CANVAS). 62
35999568 2022
47
What do I need to know? Essential educational concepts for complex regional pain syndrome. 62
35598314 2022
48
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 62
35585435 2022
49
Photo-induced lattice distortion in 2H-MoTe2 probed by time-resolved core level photoemission. 62
35506865 2022
50
Educate to transform: An innovative experience for faculty training. 62
35935903 2022

Variations for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

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

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RFC1 NC_000004.12:g.39348425AARRG[(400_2000)] MICROSAT 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] MICROSAT Pathogenic
986302 GRCh37:
GRCh38: 4:39348425-39348425
5 RFC1 NC_000004.12:g.39348425AAGGG[(400_2000)] MICROSAT Pathogenic
997970 GRCh37:
GRCh38:
6 RFC1 NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter) SNV Pathogenic
1703247 GRCh37: 4:39318591-39318591
GRCh38: 4:39316971-39316971
7 ELF2 NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr) SNV Likely Pathogenic
431175 rs747574524 GRCh37: 4:140058846-140058846
GRCh38: 4:139137692-139137692
8 RFC1 NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) SNV Uncertain Significance
1030298 rs1739849007 GRCh37: 4:39329310-39329310
GRCh38: 4:39327690-39327690
9 RFC1 NM_002913.5(RFC1):c.2808+36C>G SNV Benign
1327948 GRCh37: 4:39301605-39301605
GRCh38: 4:39299985-39299985
10 RFC1 NM_002913.5(RFC1):c.2541A>G (p.Pro847=) SNV Benign
1327949 GRCh37: 4:39302029-39302029
GRCh38: 4:39300409-39300409
11 RFC1 NM_002913.5(RFC1):c.331+25G>T SNV Benign
1327950 GRCh37: 4:39343940-39343940
GRCh38: 4:39342320-39342320
12 RFC1 NM_002913.5(RFC1):c.4-26G>A SNV Benign
1327951 GRCh37: 4:39353122-39353122
GRCh38: 4:39351502-39351502
13 RFC1 NM_002913.5(RFC1):c.132+2923= MICROSAT Benign
996307 GRCh37: 4:39350045-39350099
GRCh38: 4:39348425-39348479
14 RFC1 NM_001204747.1:c.132+2923_2927AAAAG[(12_200)] MICROSAT Not Provided
996308 GRCh37:
GRCh38:
15 RFC1 NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)] MICROSAT Not Provided
996309 GRCh37:
GRCh38:
16 RFC1 NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)] MICROSAT Not Provided
996310 GRCh37:
GRCh38:
17 RFC1 NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)] MICROSAT Not Provided
996311 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 RFC1 ELF2

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 DNA-templated transcription GO:0045893 9.26 RFC1 ELF2
2 negative regulation of DNA-templated transcription 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 8.8 RFC1 ELF2

Sources for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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