SCAR1
MCID: SPN327
MIFTS: 59

Spinocerebellar Ataxia, Autosomal Recessive 1 (SCAR1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 1

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 1:

Name: Spinocerebellar Ataxia, Autosomal Recessive 1 58 74
Scar1 58 54 60 76 56
Aoa2 58 25 54 60 76
Ataxia with Oculomotor Apraxia Type 2 12 25 54 15
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 54 60 76
Spinocerebellar Ataxia Autosomal Recessive 1 30 6
Ataxia-Oculomotor Apraxia Type 2 54 60
Ataxia-Oculomotor Apraxia 2 58 76
Ataxia-Ocular Apraxia 2 58 76
Scan 2 54 60
Scan2 54 76
Spinocerebellar Ataxia, Autosomal Recessive, 1 76
Autosomal Recessive Spinocerebellar Ataxia-1 54
Ataxia-Oculomotor Apraxia 2; Aoa2 58
Ataxia-Ocular Apraxia-2 13

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia with axonal neuropathy type 2
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset usually in mid-teens, average 15 years (range 2 to 20 years)
high frequency in the french-canadian population


HPO:

33
spinocerebellar ataxia, autosomal recessive 1:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 1

OMIM : 58 Autosomal recessive spinocerebellar ataxia-1 is a neurodegenerative disorder characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein (AFP; 104150). Oculomotor apraxia is a common but inconsistent finding, found in about 50% of patients; hence this disorder is sometimes referred to as 'ataxia-oculomotor apraxia-2' (AOA2) (Moreira et al., 2004; summary by Ichikawa et al., 2013). Duquette et al. (2005) emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 (607250). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920). (606002)

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 1, also known as scar1, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and apraxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 1 is SETX (Senataxin), and among its related pathways/superpathways are TCR Signaling (Qiagen) and DNA Damage. The drugs Adenosine and Aminophylline have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are conjunctival telangiectasia and dysphagia

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has material basis in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.

NIH Rare Diseases : 54 Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is a rare condition that affects muscle control and coordination. Ataxia (difficulty coordinating movements) is generally the earliest sign of the condition and is often diagnosed between age seven and 25 years. Other signs and symptoms may include sensorimotor neuropathy, mild cognitive impairment and less commonly, movement disorders. Approximately half of affected people also experience, oculomotor apraxia which makes it difficult to move the eyes from side-to side in the desired direction. SCAN2 is caused by changes (mutations) in the SETX gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia, autosomal recessive, 1: 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. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia.

GeneReviews: NBK1154

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 1

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia 48
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.2 APTX SACS SETX TTPA
2 apraxia 30.2 APTX ATM PIK3R5 SETX
3 autosomal dominant cerebellar ataxia 30.1 ATXN1 CACNA1A FXN SPTBN2
4 ataxia-telangiectasia 29.7 APTX ATM H2AFX
5 axonal neuropathy 10.2
6 neuropathy 10.2
7 tremor 10.2
8 neuropathy, hereditary sensory and autonomic, type iia 10.2 KIF1A SACS SETX
9 spinocerebellar ataxia 18 10.2 CACNA1A SPTBN2
10 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 10.2
11 ocular motor apraxia 10.1 APTX ATM
12 oculomotor nerve paralysis 10.1 AFP CAMP
13 spinocerebellar ataxia 31 10.1 CACNA1A SACS SETX
14 third cranial nerve disease 10.1 AFP CAMP
15 ataxia and polyneuropathy, adult-onset 10.0
16 infertility 10.0
17 myoclonus 10.0
18 sarcocystosis 10.0 FARSA SACS
19 primary cerebellar degeneration 10.0 ATXN1 CACNA1A
20 spastic ataxia, charlevoix-saguenay type 10.0 APTX FXN SACS SETX TTPA
21 autosomal recessive disease 9.9 ATM FXN TTPA
22 vitamin e, familial isolated deficiency of 9.9 AFP APTX FXN SACS SETX TTPA
23 autosomal recessive cerebellar ataxia 9.8 AFP ATM FXN SETX SPTBN2
24 friedreich ataxia 1 9.7 APTX ATXN1 CACNA1A FXN SETX TTPA
25 autosomal genetic disease 9.7 ATM ATXN1 CACNA1A FXN
26 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.5 APTX CACNA1A ITPR1 KIF11 KIF1A SETX
27 xeroderma pigmentosum, variant type 9.4 ATM H2AFX RAD51
28 hereditary ataxia 9.3 APTX ATM ATXN1 CACNA1A FXN SETX
29 cerebellar disease 9.3 APTX ATM CACNA1A ITPR1 SACS SETX
30 aceruloplasminemia 8.9 APTX ATM ATXN1 CACNA1A FXN ITPR1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 1:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 1

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 1

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 1:

33 60 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 conjunctival telangiectasia 33 occasional (7.5%) HP:0000524
2 dysphagia 60 33 very rare (1%) Occasional (29-5%) HP:0002015
3 strabismus 60 33 very rare (1%) Occasional (29-5%) HP:0000486
4 dystonia 60 33 very rare (1%) Occasional (29-5%) HP:0001332
5 areflexia 60 33 very rare (1%) Very frequent (99-80%) HP:0001284
6 elevated alpha-fetoprotein 60 33 very rare (1%) Frequent (79-30%) HP:0006254
7 oculomotor apraxia 60 33 very rare (1%) Frequent (79-30%) HP:0000657
8 head tremor 60 33 very rare (1%) Occasional (29-5%) HP:0002346
9 nystagmus 33 very rare (1%) HP:0000639
10 dysarthria 33 very rare (1%) HP:0001260
11 tremor 33 very rare (1%) HP:0001337
12 chorea 33 very rare (1%) HP:0002072
13 scoliosis 33 very rare (1%) HP:0002650
14 gait ataxia 33 very rare (1%) HP:0002066
15 impaired proprioception 33 very rare (1%) HP:0010831
16 pes cavus 33 very rare (1%) HP:0001761
17 hyporeflexia 33 very rare (1%) HP:0001265
18 cerebellar atrophy 33 very rare (1%) HP:0001272
19 peripheral axonal neuropathy 33 very rare (1%) HP:0003477
20 distal muscle weakness 33 very rare (1%) HP:0002460
21 distal amyotrophy 33 very rare (1%) HP:0003693
22 impaired distal tactile sensation 33 very rare (1%) HP:0006937
23 saccadic smooth pursuit 60 33 Frequent (79-30%) HP:0001152
24 gaze-evoked nystagmus 60 33 Frequent (79-30%) HP:0000640
25 ataxia 60 Very frequent (99-80%)
26 abnormal pyramidal signs 60 Occasional (29-5%)
27 elevated serum creatine phosphokinase 60 Occasional (29-5%)
28 limb ataxia 33 HP:0002070
29 gait imbalance 60 Frequent (79-30%)
30 babinski sign 60 Occasional (29-5%)
31 urinary bladder sphincter dysfunction 60 Occasional (29-5%)
32 decreased motor nerve conduction velocity 33 HP:0003431
33 hypercholesterolemia 60 Occasional (29-5%)
34 choreoathetosis 60 Occasional (29-5%)
35 postural tremor 60 Occasional (29-5%)
36 progressive gait ataxia 33 HP:0007240
37 pontocerebellar atrophy 33 HP:0006879
38 sensorimotor neuropathy 60 Very frequent (99-80%)
39 cerebellar vermis atrophy 60 Very frequent (99-80%)
40 polyneuropathy 33 HP:0001271
41 increased antibody level in blood 33 HP:0010702
42 sensory impairment 60 Frequent (79-30%)
43 hypoalbuminemia 60 Occasional (29-5%)
44 chronic axonal neuropathy 33 HP:0007267
45 impaired distal vibration sensation 33 HP:0006886
46 elevated serum creatine kinase 33 HP:0003236
47 abnormal pyramidal sign 33 HP:0007256

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
pontocerebellar atrophy
spinocerebellar ataxia
gait ataxia, progressive
limb ataxia, progressive
more
Neurologic Peripheral Nervous System:
areflexia
decreased motor nerve conduction velocity (ncv)
sural nerve biopsy shows chronic axonal neuropathy
polyneuropathy (98% of patients)
decreased distal vibration sense
more
Muscle Soft Tissue:
distal muscle weakness
distal amyotrophy

Skeletal Spine:
scoliosis (22% of patients)

Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
saccadic smooth pursuit
gaze-evoked nystagmus
strabismus (13 to 30% of patients)
oculomotor apraxia (56% of patients)
conjunctival telangiectasia (reported in 1 family)

Skeletal Feet:
pes cavus (less common)

Laboratory Abnormalities:
increased serum alpha-fetoprotein
increased serum gamma-globulin
increased serum creatine kinase (less common)

Clinical features from OMIM:

606002

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.68 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.68 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.68 SACS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 SACS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.68 FGF8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.68 SACS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.68 SACS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.68 FGF8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 FGF8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.68 SACS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.68 FGF8 FXN SACS TTPA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 FGF8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.68 FGF8 SACS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.68 TTPA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 FGF8 FXN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 SACS

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 AFP ATM ATXN1 CACNA1A FGF8 FXN
2 cellular MP:0005384 10.06 APTX ATM CACNA1A CAMP FGF8 FXN
3 growth/size/body region MP:0005378 10.03 ATM ATXN1 CACNA1A FARSA FGF8 FXN
4 homeostasis/metabolism MP:0005376 9.93 AFP APTX ATM ATXN1 CACNA1A FARSA
5 mortality/aging MP:0010768 9.77 AFP ATM ATXN1 CACNA1A CAMP FARSA
6 reproductive system MP:0005389 9.28 AFP ATM CACNA1A FGF8 H2AFX ITPR1

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 1

Drugs for Spinocerebellar Ataxia, Autosomal Recessive 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# 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 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
5 Purinergic P1 Receptor Antagonists Phase 4
6 Anti-Asthmatic Agents Phase 4,Not Applicable
7 Autonomic Agents Phase 4,Phase 2,Not Applicable
8 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
9 Cardiotonic Agents Phase 4
10 Bronchodilator Agents Phase 4,Not Applicable
11 Respiratory System Agents Phase 4,Not Applicable
12 Phosphodiesterase Inhibitors Phase 4
13 Protective Agents Phase 4,Phase 2,Not Applicable
14
Ethanol Approved Phase 3,Phase 1,Not Applicable 64-17-5 702
15
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
16 Nutrients Phase 3
17 Trace Elements Phase 3
18 Lecithin Phase 3
19 Vitamins Phase 3
20 Ubiquinone Phase 3
21 Micronutrients Phase 3
22 Complement System Proteins Phase 3
23
Nicotine Approved Phase 2,Not Applicable 54-11-5 942 89594
24
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
25
Levodopa Approved Phase 2 59-92-7 6047
26
Pramipexole Approved, Investigational Phase 2 104632-26-0 119570 59868
27
Cisplatin Approved Phase 2 15663-27-1 441203 84093 2767
28 Central Nervous System Stimulants Phase 2
29 Nicotinic Agonists Phase 2,Not Applicable
30 Immunologic Factors Phase 2,Early Phase 1
31 Cholinergic Agents Phase 2,Not Applicable
32 Vaccines Phase 2,Early Phase 1
33 Antiparkinson Agents Phase 2
34 Dopamine agonists Phase 2
35 Antioxidants Phase 2
36 Dopamine Agents Phase 2
37
nivolumab Approved Phase 1 946414-94-4
38
Pembrolizumab Approved Phase 1 1374853-91-4
39
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
40
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
41
Carfentanil Illicit, Investigational, Vet_approved Phase 1 59708-52-0
42 Narcotics Phase 1
43 Anesthetics Phase 1
44 Anesthetics, Intravenous Phase 1
45 Central Nervous System Depressants Phase 1,Not Applicable
46 Analgesics, Opioid Phase 1
47 Narcotic Antagonists Phase 1
48 Analgesics Phase 1
49 Adjuvants, Anesthesia Phase 1
50 Opiate Alkaloids Phase 1

Interventional clinical trials:

(show all 43)
# 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 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 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 A Randomized Control Trial Treating Depression With Yoga and Coherent Breathing Versus Walking in Veterans Recruiting NCT03489122 Phase 1, Phase 2
8 Study to Evaluate Immunological Response to PD-1 Inhibition in Squamous Cell Carcinoma of the Head and Neck (SCCHN) Recruiting NCT03129061 Phase 1 [18F]F-AraG PET Scan, baseline + post anti-PD-1 therapy.;[18F]F-AraG PET Scan, baseline + post anti-PD-1 therapy.
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 I-Scan Vs High Definition White Light (Main Study) Unknown status NCT02016326 Not Applicable
13 An Investigation Into the Efficacy of Provodine Topical Cream as Compared to 10% Benzoyl Peroxide Wash for the Treatment of Hidradenitis Suppurativa. Unknown status NCT01818167 Not Applicable 10% Benzoyl Peroxide Topical Body Wash;Provodine Topical Cream
14 I-Scan Versus High-definition White Light Completed NCT01617278 Not Applicable
15 Brain Blood Flow Changes Elicited by Oxytocin in Volunteers With and Without Schizophrenia Withdrawn NCT01123317 Not Applicable Oxytocin
16 Multimodal Neuroimaging of Stress and Reward Cues to Assess Alcoholism Risk and Relapse Recruiting NCT02616094 Not Applicable
17 Positron Emission Tomography(PET) in Lymphoma Assessment Completed NCT00887718 Not Applicable
18 Assessment of Visual Field-related Endpoints in Patients With Non-arteritic Ischemic Optic Neuropathy Completed NCT01614158
19 Subcuticular Suture Versus Staples for Closure of the Skin After Caesarean Section. Completed NCT01217567 Not Applicable
20 Reproducibility and Repeatability of Multifunctional MRI Biomarkers of the Body Completed NCT02201797 Not Applicable
21 4D Phase Contrast MR: Hypertrophy in Liver Cancer Terminated NCT02618447 Not Applicable
22 The Neural Basis of Cue-Elicited Cigarette Craving and Its Control Completed NCT01048957 Not Applicable
23 Impact of Varenicline on Blood-Oxygen-Level Dependent (BOLD) Functional Magnetic Resonance Imaging (fMRI) Activation on Smokers Completed NCT00934024 Not Applicable varenicline
24 Respiratory Impedance and Obliterative Bronchiolitis Completed NCT01255449 Not Applicable albuterol
25 PET/CT in Evaluating Response to Chemotherapy in Patients With Breast Cancer Suspended NCT01712815 Not Applicable
26 Digital vs Conventional Impressions Study Recruiting NCT03146780 Not Applicable
27 Tryptophan Metabolism in Human Brain Tumors Recruiting NCT02367482
28 Hd-bronchoscopy, Comparison to Standard White Light and Autofluorescence Bronchoscopy Completed NCT01676012
29 HD+ I-scan Bronchoscopy Vascular Abnormalities Detection Multicenter Study Completed NCT02285426
30 In Vivo Assessment of Hypoxia in Gastro-intestinal Cancer Using 18F-HX4-PET: an Optimization and Reproducibility Study Completed NCT01995084 Not Applicable [F-18]HX4
31 PET Scanning to Evaluate Zoledronate Efficacy in Metastatic Prostate Cancer Completed NCT01205646 Not Applicable zoledronate therapy
32 6-0 Fast Absorbing Gut Versus 5-0 Fast Absorbing Gut for Linear Wound Closure Active, not recruiting NCT03303027 Not Applicable
33 Angiogenesis and Fibrosis in Myocardial Infarction Completed NCT01813045
34 Interrupted Subdermal Suture Spacing During Linear Wound Closures and the Effect on Wound Cosmesis Recruiting NCT03327922 Not Applicable
35 Running Cutaneous Suture Spacing During Linear Wound Closures and the Effect on Wound Cosmesis Active, not recruiting NCT03330041 Not Applicable
36 Magnetic Resonance Study of Liver in Chemotherapy Completed NCT00578838
37 Effects of Vaccinations With HLA-A2-Restricted Glioma Antigen-Peptides in Combination With Poly-ICLC for Adults With High-Risk WHO Grade II Astrocytomas and Oligo-Astrocytomas Completed NCT00795457 Early Phase 1
38 Safety and Efficacy Evaluation of UltheraTM in Treatment of Baggy Eyelid Completed NCT01693055 Not Applicable
39 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable
40 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
41 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
42 Comparison Between Chromoendoscopy and Virtual Chromoendoscopy (NBI, I-scan, FICE) for Detection of Neoplasia in Long Standing Ulcerative Colitis Recruiting NCT01882205 Not Applicable
43 Improving Pulmonary Function Following Radiation Therapy Recruiting NCT02843568 Not Applicable

Search NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 1

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 1

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Autosomal Recessive 1 30 SETX

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 1

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 1:

42
Eye, Spinal Cord, Cerebellum, Brain, Skin, Bone, Prostate

Publications for Spinocerebellar Ataxia, Autosomal Recessive 1

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 1:

(show all 29)
# Title Authors Year
1
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). ( 30778901 )
2019
2
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
3
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. ( 30198223 )
2018
4
Absorbable suture. Best aesthetic outcome in cesarian scar1. ( 30517329 )
2018
5
A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. ( 26811093 )
2016
6
Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population. ( 26332941 )
2015
7
Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. ( 25787807 )
2015
8
Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2. ( 25462094 )
2015
9
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. ( 24760770 )
2014
10
Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. ( 24814856 )
2014
11
The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2. ( 30363866 )
2014
12
Holmes-Like Tremor in Ataxia With Oculomotor Apraxia Type 2. ( 30713863 )
2014
13
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. ( 23475383 )
2013
14
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1. ( 23786967 )
2013
15
Cognitive functions in ataxia with oculomotor apraxia type 2. ( 23015802 )
2012
16
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. ( 23111195 )
2012
17
Sensory neuronopathy in ataxia with oculomotor apraxia type 2. ( 20869730 )
2010
18
(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. ( 20713024 )
2010
19
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. ( 19696032 )
2009
20
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). ( 19893583 )
2009
21
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. ( 19141356 )
2009
22
Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. ( 19618424 )
2009
23
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. ( 19727998 )
2009
24
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. ( 18625865 )
2008
25
Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. ( 19569000 )
2008
26
Ovarian failure in ataxia with oculomotor apraxia type 2. ( 17593543 )
2007
27
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. ( 16636238 )
2006
28
Src-dependent phosphorylation of Scar1 promotes its association with the Arp2/3 complex. ( 16317717 )
2006
29
Ataxia with Oculomotor Apraxia Type 2 ( 20301333 )
1993

Variations for Spinocerebellar Ataxia, Autosomal Recessive 1

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 1:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 SETX p.Trp305Cys VAR_018777
2 SETX p.Arg332Trp VAR_018778 rs29001665
3 SETX p.Pro413Leu VAR_018780
4 SETX p.Phe1756Ser VAR_018788 rs762175796
5 SETX p.Pro2213Leu VAR_018791 rs28940290
6 SETX p.Met274Ile VAR_036646 rs997473183
7 SETX p.Asn603Asp VAR_036647 rs116205032
8 SETX p.Gln653Lys VAR_036648 rs116333061
9 SETX p.Arg1294Cys VAR_036649 rs267607044
10 SETX p.Pro2368Arg VAR_036650 rs142083343
11 SETX p.Ile331Lys VAR_071682
12 SETX p.Pro496Leu VAR_071683
13 SETX p.Met2229Thr VAR_071687 rs147182433
14 SETX p.Met274Val VAR_072587 rs753713810
15 SETX p.Leu1976Arg VAR_072588 rs121434379

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 1:

6 (show top 50) (show all 324)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh38 Chromosome 9, 132349370: 132349370
2 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh37 Chromosome 9, 135224757: 135224757
3 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh38 Chromosome 9, 132327789: 132327789
4 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh37 Chromosome 9, 135203176: 135203176
5 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh37 Chromosome 9, 135171327: 135171327
6 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh38 Chromosome 9, 132295940: 132295940
7 SETX NM_015046.6(SETX): c.5821_5830delGCAATAGAAA (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh37 Chromosome 9, 135172393: 135172402
8 SETX NM_015046.6(SETX): c.5821_5830delGCAATAGAAA (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh38 Chromosome 9, 132297006: 132297015
9 SETX NM_015046.5(SETX): c.4087C> T (p.Arg1363Ter) single nucleotide variant Pathogenic rs121434376 GRCh37 Chromosome 9, 135202898: 135202898
10 SETX NM_015046.5(SETX): c.4087C> T (p.Arg1363Ter) single nucleotide variant Pathogenic rs121434376 GRCh38 Chromosome 9, 132327511: 132327511
11 SETX NM_015046.5(SETX): c.2602C> T (p.Gln868Ter) single nucleotide variant Pathogenic rs121434377 GRCh37 Chromosome 9, 135204383: 135204383
12 SETX NM_015046.5(SETX): c.2602C> T (p.Gln868Ter) single nucleotide variant Pathogenic rs121434377 GRCh38 Chromosome 9, 132328996: 132328996
13 SETX NM_015046.5(SETX): c.6638C> T (p.Pro2213Leu) single nucleotide variant Pathogenic rs28940290 GRCh37 Chromosome 9, 135156870: 135156870
14 SETX NM_015046.5(SETX): c.6638C> T (p.Pro2213Leu) single nucleotide variant Pathogenic rs28940290 GRCh38 Chromosome 9, 132281483: 132281483
15 SETX NM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs) deletion Pathogenic rs587776536 GRCh37 Chromosome 9, 135204014: 135204018
16 SETX NM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs) deletion Pathogenic rs587776536 GRCh38 Chromosome 9, 132328627: 132328631
17 SETX NM_015046.5(SETX): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs29001665 GRCh37 Chromosome 9, 135206680: 135206680
18 SETX NM_015046.5(SETX): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs29001665 GRCh38 Chromosome 9, 132331293: 132331293
19 SETX NM_015046.5(SETX): c.1166T> C (p.Leu389Ser) single nucleotide variant Pathogenic rs29001584 GRCh37 Chromosome 9, 135205819: 135205819
20 SETX NM_015046.5(SETX): c.1166T> C (p.Leu389Ser) single nucleotide variant Pathogenic rs29001584 GRCh38 Chromosome 9, 132330432: 132330432
21 SETX NM_015046.5(SETX): c.5927T> G (p.Leu1976Arg) single nucleotide variant Pathogenic rs121434379 GRCh37 Chromosome 9, 135172296: 135172296
22 SETX NM_015046.5(SETX): c.5927T> G (p.Leu1976Arg) single nucleotide variant Pathogenic rs121434379 GRCh38 Chromosome 9, 132296909: 132296909
23 SETX NM_015046.5(SETX): c.1807A> G (p.Asn603Asp) single nucleotide variant Uncertain significance rs116205032 GRCh37 Chromosome 9, 135205178: 135205178
24 SETX NM_015046.5(SETX): c.1807A> G (p.Asn603Asp) single nucleotide variant Uncertain significance rs116205032 GRCh38 Chromosome 9, 132329791: 132329791
25 SETX NM_015046.5(SETX): c.822G> H single nucleotide variant no interpretation for the single variant rs997473183 GRCh37 Chromosome 9, 135210011: 135210011
26 SETX NM_015046.5(SETX): c.822G> H single nucleotide variant no interpretation for the single variant rs997473183 GRCh38 Chromosome 9, 132334624: 132334624
27 SETX NM_015046.5(SETX): c.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh37 Chromosome 9, 135172294: 135172294
28 SETX NM_015046.5(SETX): c.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh38 Chromosome 9, 132296907: 132296907
29 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh37 Chromosome 9, 135206510: 135206510
30 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh38 Chromosome 9, 132331123: 132331123
31 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh37 Chromosome 9, 135221691: 135221693
32 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh38 Chromosome 9, 132346304: 132346306
33 SETX NM_015046.5(SETX): c.1957C> A (p.Gln653Lys) single nucleotide variant Benign rs116333061 GRCh37 Chromosome 9, 135205028: 135205028
34 SETX NM_015046.5(SETX): c.1957C> A (p.Gln653Lys) single nucleotide variant Benign rs116333061 GRCh38 Chromosome 9, 132329641: 132329641
35 SETX NM_015046.5(SETX): c.3880C> T (p.Arg1294Cys) single nucleotide variant no interpretation for the single variant rs267607044 GRCh37 Chromosome 9, 135203105: 135203105
36 SETX NM_015046.5(SETX): c.3880C> T (p.Arg1294Cys) single nucleotide variant no interpretation for the single variant rs267607044 GRCh38 Chromosome 9, 132327718: 132327718
37 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh37 Chromosome 9, 135203530: 135203530
38 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh38 Chromosome 9, 132328143: 132328143
39 SETX NM_015046.5(SETX): c.6848_6851delCAGA (p.Thr2283Lysfs) deletion Pathogenic rs398124286 GRCh37 Chromosome 9, 135152531: 135152534
40 SETX NM_015046.5(SETX): c.6848_6851delCAGA (p.Thr2283Lysfs) deletion Pathogenic rs398124286 GRCh38 Chromosome 9, 132277144: 132277147
41 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh37 Chromosome 9, 135140020: 135140020
42 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh38 Chromosome 9, 132264633: 132264633
43 SETX NM_015046.5(SETX): c.6322C> T (p.Gln2108Ter) single nucleotide variant Pathogenic rs879253866 GRCh37 Chromosome 9, 135163625: 135163625
44 SETX NM_015046.5(SETX): c.6322C> T (p.Gln2108Ter) single nucleotide variant Pathogenic rs879253866 GRCh38 Chromosome 9, 132288238: 132288238
45 SETX NM_015046.5(SETX): c.7114G> A (p.Asp2372Asn) single nucleotide variant Benign/Likely benign rs150673589 GRCh38 Chromosome 9, 132271795: 132271795
46 SETX NM_015046.5(SETX): c.7114G> A (p.Asp2372Asn) single nucleotide variant Benign/Likely benign rs150673589 GRCh37 Chromosome 9, 135147182: 135147182
47 SETX NM_015046.5(SETX): c.6507G> A (p.Gly2169=) single nucleotide variant Benign/Likely benign rs34073320 GRCh37 Chromosome 9, 135158690: 135158690
48 SETX NM_015046.5(SETX): c.6507G> A (p.Gly2169=) single nucleotide variant Benign/Likely benign rs34073320 GRCh38 Chromosome 9, 132283303: 132283303
49 SETX NM_015046.5(SETX): c.4755T> G (p.Pro1585=) single nucleotide variant Benign/Likely benign rs151237267 GRCh37 Chromosome 9, 135202230: 135202230
50 SETX NM_015046.5(SETX): c.4755T> G (p.Pro1585=) single nucleotide variant Benign/Likely benign rs151237267 GRCh38 Chromosome 9, 132326843: 132326843

Expression for Spinocerebellar Ataxia, Autosomal Recessive 1

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 1.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 1

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 ATM CACNA1A H2AFX ITPR1 PIK3R5 RAD51
2 11.82 APTX ATM H2AFX KIF11 RAD51
3
Show member pathways
11.61 CACNA1A ITPR1 PIK3R5
4
Show member pathways
11.37 ATM H2AFX RAD51
5 10.7 ATM CACNA1A H2AFX ITPR1 PIK3R5 RAD51

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 1

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.55 AFP APTX ATM ATXN1 CACNA1A CAMP
2 presynapse GO:0098793 9.43 CACNA1A KIF1A SPTBN2
3 chromatin GO:0000785 9.33 APTX H2AFX RAD51
4 chromosome, telomeric region GO:0000781 9.13 ATM H2AFX SETX

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.55 APTX ATM H2AFX RAD51 SETX
2 DNA recombination GO:0006310 9.43 H2AFX RAD51 SETX
3 embryo development ending in birth or egg hatching GO:0009792 9.32 FGF8 FXN
4 double-strand break repair GO:0006302 9.13 APTX H2AFX SETX
5 DNA repair GO:0006281 9.02 APTX ATM H2AFX RAD51 SETX

Sources for Spinocerebellar Ataxia, Autosomal Recessive 1

3 CDC
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