SCAR1
MCID: SPN327
MIFTS: 42

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 57 73
Ataxia with Oculomotor Apraxia Type 2 12 24 15
Scar1 57 75 55
Aoa2 57 24 75
Spinocerebellar Ataxia Autosomal Recessive 1 29 6
Ataxia-Oculomotor Apraxia 2 57 75
Ataxia-Ocular Apraxia 2 57 75
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 75
Spinocerebellar Ataxia, Autosomal Recessive, 1 75
Ataxia-Oculomotor Apraxia 2; Aoa2 57
Ataxia-Ocular Apraxia-2 13
Scan2 75

Characteristics:

OMIM:

57
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:

32
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 : 57 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 ataxia with oculomotor apraxia type 2, is related to spinocerebellar ataxia with axonal neuropathy type 2 and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 1 is SETX (Senataxin). 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 nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 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 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 18)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia with axonal neuropathy type 2 31.9 PIK3R5 SETX
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.6 APTX SETX TTPA
3 apraxia 30.0 APTX PIK3R5 SETX
4 ataxia and polyneuropathy, adult-onset 10.2
5 axonal neuropathy 10.2
6 neuropathy 10.2
7 autosomal dominant cerebellar ataxia 10.2
8 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 10.1
9 ataxia-telangiectasia 10.0
10 myoclonus 10.0
11 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.0 APTX SETX
12 cerebellar disease 9.9 APTX SETX
13 hereditary ataxia 9.8 APTX SETX
14 autosomal recessive cerebellar ataxia 9.8 AFP SETX
15 spastic ataxia, charlevoix-saguenay type 9.8 APTX SETX TTPA
16 friedreich ataxia 1 9.8 APTX SETX TTPA
17 aceruloplasminemia 9.7 APTX SETX TTPA
18 vitamin e, familial isolated deficiency of 9.5 AFP APTX SETX TTPA

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 1:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 very rare (1%) HP:0000639
2 dysarthria 32 very rare (1%) HP:0001260
3 tremor 32 very rare (1%) HP:0001337
4 dysphagia 32 very rare (1%) HP:0002015
5 chorea 32 very rare (1%) HP:0002072
6 scoliosis 32 very rare (1%) HP:0002650
7 elevated serum creatine phosphokinase 32 HP:0003236
8 strabismus 32 very rare (1%) HP:0000486
9 gait ataxia 32 very rare (1%) HP:0002066
10 limb ataxia 32 HP:0002070
11 impaired proprioception 32 very rare (1%) HP:0010831
12 pes cavus 32 very rare (1%) HP:0001761
13 dystonia 32 very rare (1%) HP:0001332
14 decreased motor nerve conduction velocity 32 HP:0003431
15 conjunctival telangiectasia 32 occasional (7.5%) HP:0000524
16 areflexia 32 very rare (1%) HP:0001284
17 saccadic smooth pursuit 32 HP:0001152
18 hyporeflexia 32 very rare (1%) HP:0001265
19 progressive gait ataxia 32 HP:0007240
20 cerebellar atrophy 32 very rare (1%) HP:0001272
21 pontocerebellar atrophy 32 HP:0006879
22 elevated alpha-fetoprotein 32 very rare (1%) HP:0006254
23 oculomotor apraxia 32 very rare (1%) HP:0000657
24 head tremor 32 very rare (1%) HP:0002346
25 peripheral axonal neuropathy 32 very rare (1%) HP:0003477
26 polyneuropathy 32 HP:0001271
27 distal muscle weakness 32 very rare (1%) HP:0002460
28 increased antibody level in blood 32 HP:0010702
29 distal amyotrophy 32 very rare (1%) HP:0003693
30 gaze-evoked nystagmus 32 HP:0000640
31 chronic axonal neuropathy 32 HP:0007267
32 impaired distal vibration sensation 32 HP:0006886
33 impaired distal tactile sensation 32 very rare (1%) HP:0006937
34 abnormal pyramidal sign 32 HP:0007256

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 107)
# 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
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,Not Applicable
9 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
10 Cardiotonic Agents Phase 4
11 Bronchodilator Agents Phase 4,Not Applicable
12 Protective Agents Phase 4,Phase 2,Not Applicable
13 Anti-Asthmatic Agents Phase 4,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 Complement System Proteins Phase 3
17 Trace Elements Phase 3
18 Micronutrients Phase 3
19 Vitamins Phase 3
20 Ubiquinone Phase 3
21 Lecithin Phase 3
22
Nicotine Approved Phase 2,Not Applicable 54-11-5 942 89594
23
Pramipexole Approved, Investigational Phase 2 104632-26-0 119570 59868
24
Levodopa Approved Phase 2 59-92-7 6047
25
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
26
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
27 Nicotinic Agonists Phase 2,Not Applicable
28 Cholinergic Agents Phase 2,Not Applicable
29 Vaccines Phase 2,Early Phase 1
30 Immunologic Factors Phase 2,Early Phase 1
31 Central Nervous System Stimulants Phase 2
32 Antiparkinson Agents Phase 2
33 Dopamine Agents Phase 2
34 Antioxidants Phase 2
35 Dopamine agonists Phase 2
36
Pembrolizumab Approved Phase 1 1374853-91-4
37
Nivolumab Approved Phase 1 946414-94-4
38
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
39
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
40
Carfentanil Illicit, Investigational, Vet_approved Phase 1 59708-52-0
41 Opiate Alkaloids Phase 1
42 Anesthetics, General Phase 1
43 Adjuvants, Anesthesia Phase 1
44 Analgesics Phase 1
45 Anesthetics, Intravenous Phase 1
46 Narcotic Antagonists Phase 1
47 Central Nervous System Depressants Phase 1,Not Applicable
48 Narcotics Phase 1
49 Anesthetics Phase 1
50 Analgesics, Opioid 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 29 SETX

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 1

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

41
Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia, Autosomal Recessive 1

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 1:

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

75 (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
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.4087C> T (p.Arg1363Ter) single nucleotide variant Pathogenic rs121434376 GRCh37 Chromosome 9, 135202898: 135202898
2 SETX NM_015046.5(SETX): c.4087C> T (p.Arg1363Ter) single nucleotide variant Pathogenic rs121434376 GRCh38 Chromosome 9, 132327511: 132327511
3 SETX NM_015046.5(SETX): c.2602C> T (p.Gln868Ter) single nucleotide variant Pathogenic rs121434377 GRCh37 Chromosome 9, 135204383: 135204383
4 SETX NM_015046.5(SETX): c.2602C> T (p.Gln868Ter) single nucleotide variant Pathogenic rs121434377 GRCh38 Chromosome 9, 132328996: 132328996
5 SETX NM_015046.5(SETX): c.6638C> T (p.Pro2213Leu) single nucleotide variant Pathogenic rs28940290 GRCh37 Chromosome 9, 135156870: 135156870
6 SETX NM_015046.5(SETX): c.6638C> T (p.Pro2213Leu) single nucleotide variant Pathogenic rs28940290 GRCh38 Chromosome 9, 132281483: 132281483
7 SETX NM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs) deletion Pathogenic rs587776536 GRCh37 Chromosome 9, 135204014: 135204018
8 SETX NM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs) deletion Pathogenic rs587776536 GRCh38 Chromosome 9, 132328627: 132328631
9 SETX NM_015046.5(SETX): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs29001665 GRCh37 Chromosome 9, 135206680: 135206680
10 SETX NM_015046.5(SETX): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs29001665 GRCh38 Chromosome 9, 132331293: 132331293
11 SETX NM_015046.5(SETX): c.1166T> C (p.Leu389Ser) single nucleotide variant Pathogenic rs29001584 GRCh37 Chromosome 9, 135205819: 135205819
12 SETX NM_015046.5(SETX): c.1166T> C (p.Leu389Ser) single nucleotide variant Pathogenic rs29001584 GRCh38 Chromosome 9, 132330432: 132330432
13 SETX NM_015046.5(SETX): c.5927T> G (p.Leu1976Arg) single nucleotide variant Pathogenic rs121434379 GRCh37 Chromosome 9, 135172296: 135172296
14 SETX NM_015046.5(SETX): c.5927T> G (p.Leu1976Arg) single nucleotide variant Pathogenic rs121434379 GRCh38 Chromosome 9, 132296909: 132296909
15 SETX NM_015046.5(SETX): c.1807A> G (p.Asn603Asp) single nucleotide variant Uncertain significance rs116205032 GRCh37 Chromosome 9, 135205178: 135205178
16 SETX NM_015046.5(SETX): c.1807A> G (p.Asn603Asp) single nucleotide variant Uncertain significance rs116205032 GRCh38 Chromosome 9, 132329791: 132329791
17 SETX NM_015046.5(SETX): c.822G> H single nucleotide variant no interpretation for the single variant rs997473183 GRCh37 Chromosome 9, 135210011: 135210011
18 SETX NM_015046.5(SETX): c.822G> H single nucleotide variant no interpretation for the single variant rs997473183 GRCh38 Chromosome 9, 132334624: 132334624
19 SETX NM_015046.5(SETX): c.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh37 Chromosome 9, 135172294: 135172294
20 SETX NM_015046.5(SETX): c.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh38 Chromosome 9, 132296907: 132296907
21 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh37 Chromosome 9, 135206510: 135206510
22 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh38 Chromosome 9, 132331123: 132331123
23 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh37 Chromosome 9, 135221691: 135221693
24 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh38 Chromosome 9, 132346304: 132346306
25 SETX NM_015046.5(SETX): c.1957C> A (p.Gln653Lys) single nucleotide variant Benign rs116333061 GRCh37 Chromosome 9, 135205028: 135205028
26 SETX NM_015046.5(SETX): c.1957C> A (p.Gln653Lys) single nucleotide variant Benign rs116333061 GRCh38 Chromosome 9, 132329641: 132329641
27 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
28 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
29 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh37 Chromosome 9, 135203530: 135203530
30 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh38 Chromosome 9, 132328143: 132328143
31 SETX NM_015046.5(SETX): c.6848_6851delCAGA (p.Thr2283Lysfs) deletion Pathogenic rs398124286 GRCh37 Chromosome 9, 135152531: 135152534
32 SETX NM_015046.5(SETX): c.6848_6851delCAGA (p.Thr2283Lysfs) deletion Pathogenic rs398124286 GRCh38 Chromosome 9, 132277144: 132277147
33 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh37 Chromosome 9, 135140020: 135140020
34 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh38 Chromosome 9, 132264633: 132264633
35 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh38 Chromosome 9, 132349370: 132349370
36 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh37 Chromosome 9, 135224757: 135224757
37 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh38 Chromosome 9, 132327789: 132327789
38 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh37 Chromosome 9, 135203176: 135203176
39 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh37 Chromosome 9, 135171327: 135171327
40 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh38 Chromosome 9, 132295940: 132295940
41 SETX NM_015046.6(SETX): c.5821_5830delGCAATAGAAA (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh37 Chromosome 9, 135172393: 135172402
42 SETX NM_015046.6(SETX): c.5821_5830delGCAATAGAAA (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh38 Chromosome 9, 132297006: 132297015
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

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 9.02 AFP APTX PIK3R5 SETX TTPA

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

# Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 8.62 APTX SETX

Sources for Spinocerebellar Ataxia, Autosomal Recessive 1

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