MCID: SPN327
MIFTS: 60

Spinocerebellar Ataxia, Autosomal Recessive 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver 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), and among its related pathways/superpathways are PAK Pathway and TCR Signaling (Qiagen). 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 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 16
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 21)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia with axonal neuropathy type 2 32.9 PIK3R5 SETX
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.0 APTX SACS SETX TTPA
3 apraxia 30.8 APTX PIK3R5 SETX
4 autosomal dominant cerebellar ataxia 30.3 ATXN1 FXN TTPA
5 amyotrophic lateral sclerosis type 6 10.7 ALS2 SETX
6 bile duct cystadenocarcinoma 10.6 ACTA1 AFP
7 spastic paraplegia 57, autosomal recessive 10.5 ALS2 SACS
8 cerebellar disease 10.5 APTX SACS SETX
9 autosomal recessive cerebellar ataxia 10.4 AFP FXN SETX
10 amyotrophic lateral sclerosis 4, juvenile 10.4 ALS2 SETX
11 oculomotor nerve paralysis 10.3 AFP CAMP
12 third cranial nerve disease 10.2 AFP CAMP
13 hereditary ataxia 10.1 APTX ATXN1 FXN SETX
14 sarcocystosis 10.1 FARSA SACS
15 spastic ataxia, charlevoix-saguenay type 9.9 APTX FXN SACS SETX TTPA
16 friedreich ataxia 1 9.8 APTX ATXN1 FXN SETX TTPA
17 trehalase deficiency 9.6 ACTA1 ALS2 RAD51 SACS SETX
18 vitamin e, familial isolated deficiency of 9.6 AFP APTX FXN SACS SETX TTPA
19 buruli ulcer 9.6 WAS WASL
20 aceruloplasminemia 9.5 APTX ATXN1 FXN SACS SETX TTPA
21 wiskott-aldrich syndrome 9.4 WAS WASF1 WASL

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 33)
# 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 abnormal pyramidal signs 32 HP:0007256
8 elevated serum creatine phosphokinase 32 HP:0003236
9 strabismus 32 very rare (1%) HP:0000486
10 gait ataxia 32 very rare (1%) HP:0002066
11 limb ataxia 32 HP:0002070
12 impaired proprioception 32 very rare (1%) HP:0010831
13 pes cavus 32 very rare (1%) HP:0001761
14 dystonia 32 very rare (1%) HP:0001332
15 decreased motor nerve conduction velocity 32 HP:0003431
16 conjunctival telangiectasia 32 occasional (7.5%) HP:0000524
17 areflexia 32 very rare (1%) HP:0001284
18 saccadic smooth pursuit 32 HP:0001152
19 hyporeflexia 32 very rare (1%) HP:0001265
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 polyneuropathy 32 HP:0001271
26 distal muscle weakness 32 very rare (1%) HP:0002460
27 increased antibody level in blood 32 HP:0010702
28 distal amyotrophy 32 very rare (1%) HP:0003693
29 progressive gait ataxia 32 HP:0007240
30 gaze-evoked nystagmus 32 HP:0000640
31 peripheral axonal neuropathy 32 very rare (1%) HP:0003477
32 impaired distal vibration sensation 32 HP:0006886
33 impaired distal tactile sensation 32 very rare (1%) HP:0006937

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

26 (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 TTPA FGF8 FXN SACS
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 SACS FGF8
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ACTA1 AFP ALS2 APTX ATXN1 FARSA
2 muscle MP:0005369 9.17 FGF8 FXN TTPA WASF1 ACTA1 ALS2

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 105)
# 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 Anti-Asthmatic Agents Phase 4,Not Applicable
5 Autonomic Agents Phase 4,Phase 2,Not Applicable
6 Bronchodilator Agents Phase 4,Not Applicable
7 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
8 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
9 Protective Agents Phase 4,Phase 2,Not Applicable
10 Respiratory System Agents Phase 4,Not Applicable
11 Phosphodiesterase Inhibitors Phase 4
12 Purinergic P1 Receptor Antagonists Phase 4
13
Ethanol Approved Phase 3,Phase 1,Not Applicable 64-17-5 702
14
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
15 Complement System Proteins Phase 3
16 Micronutrients Phase 3
17 Trace Elements Phase 3
18 Ubiquinone Phase 3
19 Vitamins Phase 3
20 Lecithin Nutraceutical Phase 3
21
Nicotine Approved Phase 2,Not Applicable 54-11-5 942 89594
22
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
23
Levodopa Approved Phase 2 59-92-7 6047
24
Pramipexole Approved, Investigational Phase 2 104632-26-0 59868 119570
25
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
26 Central Nervous System Stimulants Phase 2
27 Cholinergic Agents Phase 2
28 Nicotinic Agonists Phase 2
29 Vaccines Phase 2,Early Phase 1
30 Antioxidants Phase 2
31 Antiparkinson Agents Phase 2
32 Dopamine Agents Phase 2
33 Dopamine agonists Phase 2
34
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
35
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
36
nivolumab Approved Phase 1 946414-94-4
37
Pembrolizumab Approved Phase 1 1374853-91-4
38
Carfentanil Illicit, Investigational, Vet_approved Phase 1 59708-52-0
39 Adjuvants, Anesthesia Phase 1
40 Analgesics Phase 1
41 Analgesics, Opioid Phase 1
42 Anesthetics Phase 1
43 Anesthetics, General Phase 1
44 Anesthetics, Intravenous Phase 1
45 Central Nervous System Depressants Phase 1,Not Applicable
46 Narcotic Antagonists Phase 1
47 Narcotics Phase 1
48 Opiate Alkaloids Phase 1
49
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
50
Benzoyl peroxide Approved Not Applicable 94-36-0 7187

Interventional clinical trials:

(show all 41)
# 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 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 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 A Randomized Control Trial Treating Depression With Yoga and Coherent Breathing Versus Walking in Veterans Not yet recruiting NCT03489122 Phase 1, Phase 2
7 [11C]Carfentanil PET Study of GSK1521498 Completed NCT00976066 Phase 1 Part A Assessing GSK1521498;Part B Assessing GSK1521498;Part C Assessing Naltrexone
8 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
9 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
10 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.
11 I-Scan Vs High Definition White Light (Main Study) Unknown status NCT02016326 Not Applicable
12 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
13 I-Scan Versus High-definition White Light Completed NCT01617278 Not Applicable
14 Positron Emission Tomography(PET) in Lymphoma Assessment Completed NCT00887718 Not Applicable
15 Assessment of Visual Field-related Endpoints in Patients With Non-arteritic Ischemic Optic Neuropathy Completed NCT01614158
16 Subcuticular Suture Versus Staples for Closure of the Skin After Caesarean Section. Completed NCT01217567 Not Applicable
17 Reproducibility and Repeatability of Multifunctional MRI Biomarkers of the Body Completed NCT02201797 Not Applicable
18 The Neural Basis of Cue-Elicited Cigarette Craving and Its Control Completed NCT01048957 Not Applicable
19 Respiratory Impedance and Obliterative Bronchiolitis Completed NCT01255449 Not Applicable albuterol
20 Hd-bronchoscopy, Comparison to Standard White Light and Autofluorescence Bronchoscopy Completed NCT01676012
21 HD+ I-scan Bronchoscopy Vascular Abnormalities Detection Multicenter Study Completed NCT02285426
22 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
23 PET Scanning to Evaluate Zoledronate Efficacy in Metastatic Prostate Cancer Completed NCT01205646 Not Applicable zoledronate therapy
24 Angiogenesis and Fibrosis in Myocardial Infarction Completed NCT01813045
25 Magnetic Resonance Study of Liver in Chemotherapy Completed NCT00578838
26 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
27 Safety and Efficacy Evaluation of UltheraTM in Treatment of Baggy Eyelid Completed NCT01693055 Not Applicable
28 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
29 Multimodal Neuroimaging of Stress and Reward Cues to Assess Alcoholism Risk and Relapse Recruiting NCT02616094 Not Applicable
30 Digital vs Conventional Impressions Study Recruiting NCT03146780 Not Applicable
31 Tryptophan Metabolism in Human Brain Tumors Recruiting NCT02367482
32 Interrupted Subdermal Suture Spacing During Linear Wound Closures and the Effect on Wound Cosmesis Recruiting NCT03327922 Not Applicable
33 Interrupted Cutaneous Suture Spacing During Linear Wound Closures and the Effect on Wound Cosmesis Recruiting NCT03330041 Not Applicable
34 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
35 Comparison Between Chromoendoscopy and Virtual Chromoendoscopy (NBI, I-scan, FICE) for Detection of Neoplasia in Long Standing Ulcerative Colitis Recruiting NCT01882205 Not Applicable
36 Improving Pulmonary Function Following Radiation Therapy Recruiting NCT02843568 Not Applicable
37 6-0 Fast Absorbing Gut Versus 5-0 Fast Absorbing Gut for Linear Wound Closure Active, not recruiting NCT03303027 Not Applicable
38 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable
39 PET/CT in Evaluating Response to Chemotherapy in Patients With Breast Cancer Suspended NCT01712815 Not Applicable
40 4D Phase Contrast MR: Hypertrophy in Liver Cancer Terminated NCT02618447 Not Applicable
41 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 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, Brain, Liver, Skin, Prostate

Publications for Spinocerebellar Ataxia, Autosomal Recessive 1

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 1:

(show all 22)
# Title Authors Year
1
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
2
A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. ( 26811093 )
2016
3
Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population. ( 26332941 )
2015
4
Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. ( 25787807 )
2015
5
Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2. ( 25462094 )
2015
6
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. ( 24760770 )
2014
7
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. ( 23475383 )
2013
8
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1. ( 23786967 )
2013
9
Cognitive functions in ataxia with oculomotor apraxia type 2. ( 23015802 )
2012
10
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. ( 23111195 )
2012
11
Sensory neuronopathy in ataxia with oculomotor apraxia type 2. ( 20869730 )
2010
12
(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. ( 20713024 )
2010
13
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. ( 19696032 )
2009
14
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). ( 19893583 )
2009
15
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. ( 19141356 )
2009
16
Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. ( 19618424 )
2009
17
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. ( 19727998 )
2009
18
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. ( 18625865 )
2008
19
Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. ( 19569000 )
2008
20
Ovarian failure in ataxia with oculomotor apraxia type 2. ( 17593543 )
2007
21
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. ( 16636238 )
2006
22
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
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 250)
# 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.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh37 Chromosome 9, 135172294: 135172294
16 SETX NM_015046.5(SETX): c.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh38 Chromosome 9, 132296907: 132296907
17 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh37 Chromosome 9, 135206510: 135206510
18 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh38 Chromosome 9, 132331123: 132331123
19 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh37 Chromosome 9, 135221691: 135221693
20 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh38 Chromosome 9, 132346304: 132346306
21 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh37 Chromosome 9, 135140020: 135140020
22 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh38 Chromosome 9, 132264633: 132264633
23 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh38 Chromosome 9, 132349370: 132349370
24 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh37 Chromosome 9, 135224757: 135224757
25 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh38 Chromosome 9, 132327789: 132327789
26 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh37 Chromosome 9, 135203176: 135203176
27 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh37 Chromosome 9, 135171327: 135171327
28 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh38 Chromosome 9, 132295940: 132295940
29 SETX NM_015046.6(SETX): c.5821_5830delGCAATAGAAA (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh37 Chromosome 9, 135172393: 135172402
30 SETX NM_015046.6(SETX): c.5821_5830delGCAATAGAAA (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh38 Chromosome 9, 132297006: 132297015
31 SETX NM_015046.6(SETX): c.7149_7151delTTGinsAT (p.Asp2383Glufs) indel no interpretation for the single variant rs863224918 GRCh37 Chromosome 9, 135147145: 135147147
32 SETX NM_015046.6(SETX): c.7149_7151delTTGinsAT (p.Asp2383Glufs) indel no interpretation for the single variant rs863224918 GRCh38 Chromosome 9, 132271758: 132271760
33 SETX NM_015046.5(SETX): c.6106G> A (p.Gly2036Arg) single nucleotide variant no interpretation for the single variant rs863224919 GRCh37 Chromosome 9, 135171259: 135171259
34 SETX NM_015046.5(SETX): c.6106G> A (p.Gly2036Arg) single nucleotide variant no interpretation for the single variant rs863224919 GRCh38 Chromosome 9, 132295872: 132295872
35 SETX NM_015046.5(SETX): c.6322C> T (p.Gln2108Ter) single nucleotide variant Pathogenic rs879253866 GRCh37 Chromosome 9, 135163625: 135163625
36 SETX NM_015046.5(SETX): c.6322C> T (p.Gln2108Ter) single nucleotide variant Pathogenic rs879253866 GRCh38 Chromosome 9, 132288238: 132288238
37 SETX NM_015046.5(SETX): c.7114G> A (p.Asp2372Asn) single nucleotide variant Benign/Likely benign rs150673589 GRCh38 Chromosome 9, 132271795: 132271795
38 SETX NM_015046.5(SETX): c.7114G> A (p.Asp2372Asn) single nucleotide variant Benign/Likely benign rs150673589 GRCh37 Chromosome 9, 135147182: 135147182
39 SETX NM_015046.5(SETX): c.6935+8T> C single nucleotide variant Benign/Likely benign rs17148873 GRCh37 Chromosome 9, 135152439: 135152439
40 SETX NM_015046.5(SETX): c.6935+8T> C single nucleotide variant Benign/Likely benign rs17148873 GRCh38 Chromosome 9, 132277052: 132277052
41 SETX NM_015046.5(SETX): c.6507G> A (p.Gly2169=) single nucleotide variant Benign/Likely benign rs34073320 GRCh37 Chromosome 9, 135158690: 135158690
42 SETX NM_015046.5(SETX): c.6507G> A (p.Gly2169=) single nucleotide variant Benign/Likely benign rs34073320 GRCh38 Chromosome 9, 132283303: 132283303
43 SETX NM_015046.5(SETX): c.4755T> G (p.Pro1585=) single nucleotide variant Benign/Likely benign rs151237267 GRCh37 Chromosome 9, 135202230: 135202230
44 SETX NM_015046.5(SETX): c.4755T> G (p.Pro1585=) single nucleotide variant Benign/Likely benign rs151237267 GRCh38 Chromosome 9, 132326843: 132326843
45 SETX NM_015046.5(SETX): c.4660T> G (p.Cys1554Gly) single nucleotide variant Benign/Likely benign rs112089123 GRCh38 Chromosome 9, 132326938: 132326938
46 SETX NM_015046.5(SETX): c.4660T> G (p.Cys1554Gly) single nucleotide variant Benign/Likely benign rs112089123 GRCh37 Chromosome 9, 135202325: 135202325
47 SETX NM_015046.5(SETX): c.2975A> G (p.Lys992Arg) single nucleotide variant Benign/Likely benign rs61742937 GRCh37 Chromosome 9, 135204010: 135204010
48 SETX NM_015046.5(SETX): c.2975A> G (p.Lys992Arg) single nucleotide variant Benign/Likely benign rs61742937 GRCh38 Chromosome 9, 132328623: 132328623
49 SETX NM_015046.5(SETX): c.5283A> G (p.Gln1761=) single nucleotide variant Conflicting interpretations of pathogenicity rs139063885 GRCh37 Chromosome 9, 135187235: 135187235
50 SETX NM_015046.5(SETX): c.5283A> G (p.Gln1761=) single nucleotide variant Conflicting interpretations of pathogenicity rs139063885 GRCh38 Chromosome 9, 132311848: 132311848

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 actin cytoskeleton GO:0015629 9.62 ACTA1 WAS WASF1 WASL
2 chromatin GO:0000785 9.54 APTX H2AFX RAD51
3 cytoplasm GO:0005737 9.53 ACTA1 AFP ALS2 APTX ATXN1 CAMP
4 actin filament GO:0005884 9.43 ACTA1 WAS WASL
5 replication fork GO:0005657 9.4 H2AFX RAD51
6 lamellipodium GO:0030027 9.26 ACTA1 ALS2 WASF1 WASL
7 actin cortical patch GO:0030479 9.16 WAS WASL

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.81 APTX H2AFX RAD51 SETX
2 protein-containing complex assembly GO:0065003 9.61 WAS WASF1 WASL
3 DNA recombination GO:0006310 9.58 H2AFX RAD51 SETX
4 actin filament polymerization GO:0030041 9.52 WAS WASF1
5 Rac protein signal transduction GO:0016601 9.49 ALS2 WASF1
6 embryo development ending in birth or egg hatching GO:0009792 9.48 FGF8 FXN
7 actin filament-based movement GO:0030048 9.46 WAS WASL
8 double-strand break repair GO:0006302 9.43 APTX H2AFX SETX
9 actin polymerization or depolymerization GO:0008154 9.37 WAS WASL
10 positive regulation of actin nucleation GO:0051127 9.32 WAS WASL
11 actin cortical patch localization GO:0051666 9.16 WAS WASL
12 actin cortical patch assembly GO:0000147 8.96 WAS WASL
13 positive regulation of Arp2/3 complex-mediated actin nucleation GO:2000601 8.8 WAS WASF1 WASL

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

# Name GO ID Score Top Affiliating Genes
1 GTPase regulator activity GO:0030695 8.62 WAS WASL

Sources for Spinocerebellar Ataxia, Autosomal Recessive 1

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