MCID: SPN410
MIFTS: 31

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye 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 Adenosine and Aminophylline have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, 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 11.6
2 hereditary ataxia 9.0 TDP1 TOP1

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:

32
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 pes cavus 32 HP:0001761
3 steppage gait 32 HP:0003376
4 peripheral axonal neuropathy 32 HP:0003477
5 distal amyotrophy 32 HP:0003693

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 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2
Aminophylline Approved Phase 4 317-34-0 9433
3
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
4 Autonomic Agents Phase 4,Phase 2,Not Applicable
5 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
6 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
7 Protective Agents Phase 4,Phase 2
8 Phosphodiesterase Inhibitors Phase 4,Phase 2
9 Anti-Asthmatic Agents Phase 4
10 Bronchodilator Agents Phase 4
11 Purinergic P1 Receptor Antagonists Phase 4
12 Respiratory System Agents Phase 4
13
Nicotine Approved Phase 2,Not Applicable 54-11-5 942 89594
14
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
15
Levodopa Approved Phase 2 59-92-7 6047
16
Pramipexole Approved, Investigational Phase 2 104632-26-0 59868 119570
17
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
18
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
19 Central Nervous System Stimulants Phase 2
20 Cholinergic Agents Phase 2
21 Nicotinic Agonists Phase 2
22 Vaccines Phase 2
23 Antioxidants Phase 2
24 Antiparkinson Agents Phase 2
25 Dopamine Agents Phase 2
26 Dopamine agonists Phase 2
27 Phosphodiesterase 5 Inhibitors Phase 2
28 Vasodilator Agents Phase 2
29
Ethanol Approved Phase 1,Not Applicable 64-17-5 702
30
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
31
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
32
Manganese Approved, Nutraceutical Phase 1 7439-96-5 27854
33
Carfentanil Illicit, Investigational, Vet_approved Phase 1 59708-52-0
34 Adjuvants, Anesthesia Phase 1
35 Analgesics Phase 1
36 Analgesics, Opioid Phase 1
37 Anesthetics Phase 1
38 Anesthetics, General Phase 1
39 Anesthetics, Intravenous Phase 1
40 Central Nervous System Depressants Phase 1,Not Applicable
41 Narcotic Antagonists Phase 1
42 Narcotics Phase 1
43 Opiate Alkaloids Phase 1
44 Fluorodeoxyglucose F18 Phase 1,Not Applicable
45 Radiopharmaceuticals Phase 1,Not Applicable
46 Micronutrients Phase 1
47 Trace Elements Phase 1
48
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
49 sodium fluoride Approved 7681-49-4
50
Lorazepam Approved Not Applicable 846-49-1 3958

Interventional clinical trials:

(show all 33)
# 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 Trial of Collagen Mesh for Prevention of Ventral Hernia After Surgery for Advanced Pelvic Cancer Completed NCT00647569 Phase 3
3 Nicotine Vaccination and Nicotinic Receptor Occupancy Completed NCT00996034 Phase 2 Nicotine bitartrate
4 Study of the Effects of Dopaminergic Medications on Dopamine Transporter Imaging in Parkinson's Disease Completed NCT00096720 Phase 2 levodopa;Mirapex (pramipexole)
5 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
6 Perfusion by Arterial Spin Labelling Following Single Dose Tadalafil in Small Vessel Disease (PASTIS) Trial Active, not recruiting NCT02450253 Phase 2 Tadalafil;Placebo
7 A Randomized Control Trial Treating Depression With Yoga and Coherent Breathing Versus Walking in Veterans Not yet recruiting NCT03489122 Phase 1, Phase 2
8 18F-CP18 Imaging Studies for Cancer Treatment With Birinapant Withdrawn NCT01766622 Phase 2 [18F]-CP18
9 [11C]Carfentanil PET Study of GSK1521498 Completed NCT00976066 Phase 1 Part A Assessing GSK1521498;Part B Assessing GSK1521498;Part C Assessing Naltrexone
10 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
11 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
12 Detection of Functioning Pituitary Microadenoma: PET/MRI Versus PET/CT Recruiting NCT03404414 Phase 1 18F-FDG
13 Manganese-Enhanced Magnetic Resonance Imaging in Healthy Volunteers and People With Multiple Sclerosis Recruiting NCT01326715 Phase 1 Mangafodipir (Teslascan)
14 I-Scan Vs High Definition White Light (Main Study) Unknown status NCT02016326 Not Applicable
15 18F-FDS PET/CT in Healthy Volunteers and Patients With Suspected Infection Unknown status NCT02450942 Early Phase 1 18F-FDS
16 68Ga-BMV101 PET/CT in Patients With Idiopathic Pulmonary Fibrosis Unknown status NCT02485886 Early Phase 1 68Ga-BMV101
17 I-Scan Versus High-definition White Light Completed NCT01617278 Not Applicable
18 Evaluation of a New Radiotracer (64Cu-DOTA-AE105) for Diagnosing Aggressive Cancer With Positron Emission Tomography Completed NCT02139371 Early Phase 1
19 Reproducibility and Repeatability of Multifunctional MRI Biomarkers of the Body Completed NCT02201797 Not Applicable
20 The Neural Basis of Cue-Elicited Cigarette Craving and Its Control Completed NCT01048957 Not Applicable
21 HD+ I-scan Bronchoscopy Vascular Abnormalities Detection Multicenter Study Completed NCT02285426
22 Hd-bronchoscopy, Comparison to Standard White Light and Autofluorescence Bronchoscopy Completed NCT01676012
23 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
24 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
25 18F-FDG PET Scan and MRI Diffusion.Evaluation of the Early Therapeutic Response of Diffuse Large B-cell Lymphoma Recruiting NCT03121456 Not Applicable
26 Multimodal Neuroimaging of Stress and Reward Cues to Assess Alcoholism Risk and Relapse Recruiting NCT02616094 Not Applicable
27 A Prospective Natural History Study of Patients With Syringomyelia Recruiting NCT01150708
28 Digital vs Conventional Impressions Study Recruiting NCT03146780 Not Applicable
29 Use of Repetitive Transcranial Magnetic Stimulation to Augment Hypnotic Analgesia Recruiting NCT02969707 Not Applicable
30 Gallium 68 Pentixafor in Patients With Neuroendocrine Tumors Recruiting NCT03335670 Early Phase 1 [68Ga]Pentixafor
31 Improving Pulmonary Function Following Radiation Therapy Recruiting NCT02843568 Not Applicable
32 4D Phase Contrast MR: Hypertrophy in Liver Cancer Terminated NCT02618447 Not Applicable
33 Brain Blood Flow Changes Elicited by Oxytocin in Volunteers With and Without Schizophrenia Withdrawn NCT01123317 Not Applicable Oxytocin

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, Cerebellum, Spinal Cord, Brain, Liver, Pituitary, Prostate

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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....