SCAN1
MCID: SPN410
MIFTS: 30

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy (SCAN1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy:

Name: Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 57 75
Scan1 57 59 75 55
Spinocerebellar Ataxia, Autosomal Recessive with Axonal Neuropathy 57 13
Spinocerebellar Ataxia with Axonal Neuropathy Type 1 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia with axonal neuropathy type 1
Inheritance: Autosomal recessive;

HPO:

32
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607250
Orphanet 59 ORPHA94124
UMLS via Orphanet 74 C1846574
ICD10 via Orphanet 34 G60.2
MedGen 42 C1846574

Summaries for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy, also known as scan1, is related to spinocerebellar ataxia type 1 with axonal neuropathy and hereditary ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy is TDP1 (Tyrosyl-DNA Phosphodiesterase 1), and among its related pathways/superpathways is DNA Damage. The drugs Regadenoson and Aminophylline have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are ataxia and pes cavus

Description from OMIM: 607250

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Diseases in the Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy family:

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia type 1 with axonal neuropathy 32.2 TDP1 TOP1
2 hereditary ataxia 29.7 TDP1 TOP1
3 spinocerebellar ataxia, autosomal recessive 1 11.1

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Clinical features from OMIM:

607250

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 Frequent (79-30%) HP:0001251
2 pes cavus 59 32 Frequent (79-30%) HP:0001761
3 steppage gait 59 32 Frequent (79-30%) HP:0003376
4 distal amyotrophy 59 32 Frequent (79-30%) HP:0003693
5 intellectual disability 59 Excluded (0%)
6 seizures 59 Occasional (29-5%)
7 peripheral neuropathy 59 Frequent (79-30%)
8 areflexia 59 Frequent (79-30%)
9 hypercholesterolemia 59 Frequent (79-30%)
10 sensorimotor neuropathy 59 Frequent (79-30%)
11 cerebellar vermis atrophy 59 Frequent (79-30%)
12 impaired vibration sensation in the lower limbs 59 Frequent (79-30%)
13 distal lower limb muscle weakness 59 Frequent (79-30%)
14 peripheral axonal neuropathy 32 HP:0003477
15 hypoalbuminemia 59 Frequent (79-30%)
16 spastic dysarthria 59 Frequent (79-30%)
17 spinocerebellar tract degeneration 59 Frequent (79-30%)
18 gaze-evoked nystagmus 59 Frequent (79-30%)
19 pain insensitivity 59 Frequent (79-30%)
20 global brain atrophy 59 Frequent (79-30%)
21 impaired distal proprioception 59 Frequent (79-30%)

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 TDP1 TOP1

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Drugs for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
2
Aminophylline Approved Phase 4 317-34-0 9433
3
Adenosine Approved, Investigational Phase 4 58-61-7 60961
4 Phosphodiesterase Inhibitors Phase 4,Phase 2
5 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
6 Autonomic Agents Phase 4,Phase 2,Not Applicable
7 Purinergic P1 Receptor Antagonists Phase 4
8 Respiratory System Agents Phase 4
9 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
10 Cardiotonic Agents Phase 4
11 Bronchodilator Agents Phase 4
12 Protective Agents Phase 4,Phase 2
13 Anti-Asthmatic Agents Phase 4
14
Nicotine Approved Phase 2,Not Applicable 54-11-5 942 89594
15
Pramipexole Approved, Investigational Phase 2 104632-26-0 119570 59868
16
Levodopa Approved Phase 2 59-92-7 6047
17
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
18
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
19
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
20
Nivolumab Approved Phase 1, Phase 2 946414-94-4
21
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
22 Nicotinic Agonists Phase 2,Not Applicable
23 Cholinergic Agents Phase 2,Not Applicable
24 Vaccines Phase 2
25 Immunologic Factors Phase 2,Phase 1
26 Central Nervous System Stimulants Phase 2
27 Antiparkinson Agents Phase 2
28 Dopamine Agents Phase 2
29 Antioxidants Phase 2
30 Dopamine agonists Phase 2
31 Antibodies Phase 1, Phase 2
32 Antibodies, Monoclonal Phase 1, Phase 2
33 Antimetabolites Phase 1, Phase 2
34 Antimetabolites, Antineoplastic Phase 1, Phase 2
35 Immunoglobulins Phase 1, Phase 2
36 Phosphodiesterase 5 Inhibitors Phase 2
37 Vasodilator Agents Phase 2
38
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
39
Ethanol Approved Phase 1,Not Applicable 64-17-5 702
40
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
41
Manganese Approved, Nutraceutical Phase 1 7439-96-5 27854
42
Carfentanil Illicit, Investigational, Vet_approved Phase 1 59708-52-0
43 Fluorodeoxyglucose F18 Phase 1,Not Applicable
44 Radiopharmaceuticals Phase 1,Not Applicable
45 Micronutrients Phase 1
46 Trace Elements Phase 1
47 Opiate Alkaloids Phase 1
48 Anesthetics, General Phase 1
49 Adjuvants, Anesthesia Phase 1
50 Analgesics Phase 1

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 The Impact of the Routine Aminophylline Administration Following Regadenoson Stress on SPECT Myocardial Perfusion Suspended NCT01655524 Phase 4 ASSUAGE Protocol
2 Integrated Dual Exercise and Lexiscan Positron Emission Tomography: IDEALPET Completed NCT01109992 Phase 4 Exercise plus Regadenoson (Lexercise);Regadenoson (Lexiscan)
3 Trial of Collagen Mesh for Prevention of Ventral Hernia After Surgery for Advanced Pelvic Cancer Completed NCT00647569 Phase 3
4 Nicotine Vaccination and Nicotinic Receptor Occupancy Completed NCT00996034 Phase 2 Nicotine bitartrate
5 Study of the Effects of Dopaminergic Medications on Dopamine Transporter Imaging in Parkinson's Disease Completed NCT00096720 Phase 2 levodopa;Mirapex (pramipexole)
6 F-18 Fluorothymidine PET Imaging for Early Evaluation of Response to Therapy in Head & Neck Cancer Patients Active, not recruiting NCT00721799 Phase 2 18F-Fluorothymidine PET scan
7 18F-CP18 Imaging Studies for Cancer Treatment With Birinapant Withdrawn NCT01766622 Phase 2 [18F]-CP18
8 Nivolumab or Nivolumab and Azacitidine in Patients With Recurrent, Resectable Osteosarcoma Not yet recruiting NCT03628209 Phase 1, Phase 2 Nivolumab;Azacitidine
9 A Randomized Control Trial Treating Depression With Yoga and Coherent Breathing Versus Walking in Veterans Recruiting NCT03489122 Phase 1, Phase 2
10 Perfusion by Arterial Spin Labelling Following Single Dose Tadalafil in Small Vessel Disease (PASTIS) Trial Active, not recruiting NCT02450253 Phase 2 Tadalafil;Placebo
11 Detection of Functioning Pituitary Microadenoma: PET/MRI Versus PET/CT Recruiting NCT03404414 Phase 1 18F-FDG
12 Manganese-Enhanced Magnetic Resonance Imaging in Healthy Volunteers and People With Multiple Sclerosis Recruiting NCT01326715 Phase 1 Mangafodipir (Teslascan)
13 18F-ASIS PET/CT Imaging of Tissue Factor Expression In Patients With Primary and Metastastic Cancer Recruiting NCT03790423 Phase 1 Injection of 18F-ASIS
14 [11C]Carfentanil PET Study of GSK1521498 Completed NCT00976066 Phase 1 Part A Assessing GSK1521498;Part B Assessing GSK1521498;Part C Assessing Naltrexone
15 This Study Will Evaluate The Relationship Between Plasma Drug Levels And Receptor Binding In Brain Using PET (Positron Emission Tomography) In Healthy Volunteers Completed NCT01258751 Phase 1 PF-05212377
16 To Evaluate The Relationship Between Plasma Drug Levels And Receptor Binding In Brain Using PET (Positron Emission Tomography) In Healthy Volunteers Completed NCT01253655 Phase 1 PF-05212365
17 I-Scan Vs High Definition White Light (Main Study) Unknown status NCT02016326 Not Applicable
18 18F-FDS PET/CT in Healthy Volunteers and Patients With Suspected Infection Unknown status NCT02450942 Early Phase 1 18F-FDS
19 68Ga-BMV101 PET/CT in Patients With Idiopathic Pulmonary Fibrosis Unknown status NCT02485886 Early Phase 1 68Ga-BMV101
20 I-Scan Versus High-definition White Light Completed NCT01617278 Not Applicable
21 Evaluation of a New Radiotracer (64Cu-DOTA-AE105) for Diagnosing Aggressive Cancer With Positron Emission Tomography Completed NCT02139371 Early Phase 1
22 Brain Blood Flow Changes Elicited by Oxytocin in Volunteers With and Without Schizophrenia Withdrawn NCT01123317 Not Applicable Oxytocin
23 18F-FDG PET Scan and MRI Diffusion.Evaluation of the Early Therapeutic Response of Diffuse Large B-cell Lymphoma Recruiting NCT03121456 Not Applicable
24 Multimodal Neuroimaging of Stress and Reward Cues to Assess Alcoholism Risk and Relapse Recruiting NCT02616094 Not Applicable
25 Reproducibility and Repeatability of Multifunctional MRI Biomarkers of the Body Completed NCT02201797 Not Applicable
26 4D Phase Contrast MR: Hypertrophy in Liver Cancer Terminated NCT02618447 Not Applicable
27 The Neural Basis of Cue-Elicited Cigarette Craving and Its Control Completed NCT01048957 Not Applicable
28 A Prospective Natural History Study of Patients With Syringomyelia Recruiting NCT01150708
29 Impact of Varenicline on Blood-Oxygen-Level Dependent (BOLD) Functional Magnetic Resonance Imaging (fMRI) Activation on Smokers Completed NCT00934024 Not Applicable varenicline
30 Digital vs Conventional Impressions Study Recruiting NCT03146780 Not Applicable
31 Establishing Functional Biomarkers for Spaced Theta-Burst Stimulation Not yet recruiting NCT03687892 Not Applicable
32 Hd-bronchoscopy, Comparison to Standard White Light and Autofluorescence Bronchoscopy Completed NCT01676012
33 HD+ I-scan Bronchoscopy Vascular Abnormalities Detection Multicenter Study Completed NCT02285426
34 Sodium Fluoride (NaF) Positron Emission Tomography/Computed Tomography (PET/CT) in Patients With Metastatic Castrate-resistant Prostate Cancer (CRPC) With Microtubule Directed Chemo or AR-directed Therapy Completed NCT01516866
35 Gallium 68 Pentixafor in Patients With Neuroendocrine Tumors Recruiting NCT03335670 Early Phase 1 [68Ga]Pentixafor
36 Use of Repetitive Transcranial Magnetic Stimulation to Augment Hypnotic Analgesia Recruiting NCT02969707 Not Applicable
37 Biological Basis of Individual Variation in Social Cooperation Completed NCT01566539 Not Applicable Intranasal Oxytocin (OT) 24 IU;Intranasal Vasopressin (AVP);Intranasal Placebo;Intranasal Vasopressin (AVP) 40 IU;Lorazepam
38 Improving Pulmonary Function Following Radiation Therapy Recruiting NCT02843568 Not Applicable
39 Long Term Follow-up After Primary or Revision Shoulder Arthroplasty With a Patient- Specific Glenius Implant Not yet recruiting NCT03806881

Search NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy:

41
Eye, Spinal Cord, Cerebellum, Brain, Endothelial

Publications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Articles related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy:

# Title Authors Year
1
Subfunctionalization of duplicate MYB genes in Solanum commersonii generated the cold-induced ScAN2 and the anthocyanin regulator ScAN1. ( 28386931 )
2018
2
Tracking the processing of damaged DNA double-strand break ends by ligation-mediated PCR: increased persistence of 3'-phosphoglycolate termini in SCAN1 cells. ( 24371269 )
2014
3
In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation. ( 19211312 )
2009

Variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy:

75
# Symbol AA change Variation ID SNP ID
1 TDP1 p.His493Arg VAR_017144 rs119467003

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TDP1 NM_018319.3(TDP1): c.1478A> G (p.His493Arg) single nucleotide variant Pathogenic rs119467003 GRCh37 Chromosome 14, 90459764: 90459764
2 TDP1 NM_018319.3(TDP1): c.1478A> G (p.His493Arg) single nucleotide variant Pathogenic rs119467003 GRCh38 Chromosome 14, 89993420: 89993420

Expression for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 TDP1 TOP1

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 8.96 TDP1 TOP1
2 single-stranded DNA binding GO:0003697 8.62 TDP1 TOP1

Sources for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

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