SCA6
MCID: SPN309
MIFTS: 50

Spinocerebellar Ataxia 6 (SCA6)

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 6

MalaCards integrated aliases for Spinocerebellar Ataxia 6:

Name: Spinocerebellar Ataxia 6 57 53 75 29 13 6
Spinocerebellar Ataxia Type 6 12 24 53 25 59 55 15 73
Sca6 57 53 25 59 75
Ataxia, Spinocerebellar, Type 6 40
Type 6 Spinocerebellar Ataxia 25
Sca 6 24

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 6
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide),1-9/100000 (Japan); Age of onset: Adolescent,Adult,Elderly; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
genetic anticipation
age of onset 20-65 years
normal alleles have 4 to 18 repeats
pathogenic alleles have 19 to 33 repeats


HPO:

32
spinocerebellar ataxia 6:
Inheritance genetic anticipation autosomal dominant inheritance
Onset and clinical course progressive


GeneReviews:

24
Penetrance Penetrance is nearly 100%, although symptoms may not appear until the seventh decade...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 6

NIH Rare Diseases : 53 Spinocerebellar ataxia type 6 (SCA6) is a neurological condition characterized by progressive problems with movement. Initial symptoms include problems with coordination and balance (ataxia). Other early signs and symptoms include speech difficulties (dysarthria), involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). The signs and symptoms of SCA6 typically begin in a person's forties or fifties. Most people with this disorder require wheelchair assistance by the time they are in their sixties. Spinocerebellar ataxia type 6 is caused by mutations in the CACNA1A gene. This condition is inherited in an autosomal dominant pattern.

MalaCards based summary : Spinocerebellar Ataxia 6, also known as spinocerebellar ataxia type 6, is related to spinocerebellar ataxia 1 and episodic ataxia, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 6 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A). The drugs Glutamic Acid and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are diplopia and dysarthria

Genetics Home Reference : 25 Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 6: 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. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.

Description from OMIM: 183086
GeneReviews: NBK1140

Related Diseases for Spinocerebellar Ataxia 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.4 CACNA1A ATXN7 ATXN3
2 episodic ataxia 30.3 KCNA1 CACNA1A
3 machado-joseph disease 30.1 CACNA1A ATXN7 ATXN3
4 autosomal dominant cerebellar ataxia 30.1 PDYN KCNA1 CACNA1A ATXN7 ATXN3
5 restless legs syndrome 30.1 CACNA1A ATXN3
6 episodic ataxia, type 2 30.0 KCNA1 CACNA1A
7 aceruloplasminemia 30.0 PDYN CACNA1A ATXN7 ATXN3
8 dentatorubral-pallidoluysian atrophy 29.8 CACNA1A ATXN7 ATXN3
9 familial hemiplegic migraine 11.6
10 spinocerebellar ataxia, autosomal recessive 6 11.2
11 spinocerebellar ataxia 25 11.1
12 hemiplegic migraine 10.3
13 dystonia 10.2
14 episodic ataxia, type 7 10.1 KCNA1 CACNA1A
15 spinocerebellar ataxia 27 10.1 KCNA1 CACNA1A
16 lymphoma, mucosa-associated lymphoid type 10.1
17 migraine, familial hemiplegic, 1 10.1
18 systemic lupus erythematosus 10.1
19 scleroderma, familial progressive 10.1
20 vertigo, benign recurrent 10.1
21 episodic ataxia, type 6 10.1
22 focal dystonia 10.1
23 lymphoma 10.1
24 dementia 10.1
25 benign paroxysmal positional nystagmus 10.1
26 olivopontocerebellar atrophy 10.1
27 lupus erythematosus 10.1
28 pathologic nystagmus 10.1
29 cerebellar degeneration 10.1
30 tremor 10.1
31 dysphagia 10.1
32 sporadic adult-onset ataxia of unknown etiology 10.1
33 episodic ataxia, type 1 10.0 KCNA1 CACNA1A
34 primary cerebellar degeneration 10.0 CACNA1A ATXN3
35 schizophrenia 10.0
36 friedreich ataxia 1 10.0 CACNA1A ATXN3
37 ataxia and polyneuropathy, adult-onset 10.0
38 spinocerebellar ataxia 26 10.0
39 spinal and bulbar muscular atrophy, x-linked 1 10.0 ATXN7 ATXN3
40 nervous system disease 9.9 CACNA1A ATXN3
41 epilepsy, idiopathic generalized 9.9 KCNA1 CACNA1A
42 focal epilepsy 9.9 PDYN KCNA1
43 spinocerebellar ataxia 18 9.9 CACNA1A ATXN7 ATXN3
44 spinocerebellar ataxia 17 9.9 CACNA1A ATXN7 ATXN3
45 spinocerebellar ataxia 2 9.9 CACNA1A ATXN7 ATXN3
46 spinocerebellar ataxia 12 9.9 CACNA1A ATXN7 ATXN3
47 autosomal genetic disease 9.9 CACNA1A ATXN7 ATXN3
48 narcolepsy 9.8 PDYN ATXN3
49 hereditary ataxia 9.7 KCNA1 CACNA1A ATXN7 ATXN3
50 spinocerebellar ataxia 31 9.7 PDYN CACNA1A ATXN7 ATXN3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 6:



Diseases related to Spinocerebellar Ataxia 6

Symptoms & Phenotypes for Spinocerebellar Ataxia 6

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
dysphagia
cerebellar atrophy
cerebellar ataxia
hemiplegic migraine in some patients
more
Neurologic Peripheral Nervous System:
sensory neuropathy (not a prominent feature)

Head And Neck Eyes:
impaired smooth pursuit
gaze-evoked nystagmus
abnormal vestibuloocular reflex (vor)


Clinical features from OMIM:

183086

Human phenotypes related to Spinocerebellar Ataxia 6:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
2 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
6 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
7 intention tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002080
8 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
9 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
10 incoordination 59 32 hallmark (90%) Very frequent (99-80%) HP:0002311
11 postural instability 59 32 hallmark (90%) Very frequent (99-80%) HP:0002172
12 unsteady gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002317
13 gaze-evoked horizontal nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0007979
14 vertical nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0010544
15 choking episodes 59 32 frequent (33%) Frequent (79-30%) HP:0030842
16 bradyopsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0030511
17 nystagmus 59 Very frequent (99-80%)
18 abnormality of vision 59 Frequent (79-30%)
19 sensory neuropathy 32 HP:0000763
20 dystonia 59 Occasional (29-5%)
21 migraine 32 occasional (7.5%) HP:0002076
22 cerebellar atrophy 32 HP:0001272
23 abnormal vestibulo-ocular reflex 32 HP:0007670
24 impaired smooth pursuit 32 HP:0007772
25 gaze-evoked nystagmus 32 HP:0000640

UMLS symptoms related to Spinocerebellar Ataxia 6:


cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 ATXN3 ATXN7 CACNA1A KCNA1 PDYN
2 nervous system MP:0003631 9.1 ATXN3 ATXN7 CACNA1A KCNA1 PDYN RIMBP2

Drugs & Therapeutics for Spinocerebellar Ataxia 6

Drugs for Spinocerebellar Ataxia 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
2
Dopamine Approved 51-61-6, 62-31-7 681
3
4-Aminopyridine Approved Not Applicable 504-24-5 1727
4 Dopamine Agents
5 Dopamine agonists
6 Potassium Channel Blockers Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
2 BHV-4157 in Adult Subjects With Spinocerebellar Ataxia Not yet recruiting NCT03701399 Phase 3 troriluzole;Placebos
3 Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
4 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
5 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
6 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Not Applicable Dalfampridine;Placebo
7 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
8 Laryngeal Adaptation for Speech and Swallowing Recruiting NCT03770377 Not Applicable
9 The EUROSCA Natural History Study Recruiting NCT02440763
10 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 6

Genetic Tests for Spinocerebellar Ataxia 6

Genetic tests related to Spinocerebellar Ataxia 6:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 6 29 CACNA1A

Anatomical Context for Spinocerebellar Ataxia 6

MalaCards organs/tissues related to Spinocerebellar Ataxia 6:

41
Eye, Cerebellum, Spinal Cord, Skin, Liver, Brain, Cortex

Publications for Spinocerebellar Ataxia 6

Articles related to Spinocerebellar Ataxia 6:

(show top 50) (show all 150)
# Title Authors Year
1
Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia. ( 28961751 )
2018
2
Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6. ( 29374372 )
2018
3
Erratum to: Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. ( 29637516 )
2018
4
Author Correction: Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6. ( 29712974 )
2018
5
Transcranial magnetic stimulation for diplopia in a patient with spinocerebellar ataxia type 6: a case report. ( 30479783 )
2018
6
Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. ( 28131213 )
2017
7
Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient Induced Pluripotent Stem Cells. ( 28946818 )
2017
8
Progression of Dysphagia in Spinocerebellar Ataxia Type 6. ( 28042641 )
2017
9
Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6. ( 27352359 )
2017
10
Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. ( 27531396 )
2017
11
Cognitive dysfunction in patients with spinocerebellar ataxia type 6. ( 27878440 )
2017
12
Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs. ( 28122232 )
2017
13
Spinocerebellar ataxia type 6 presenting with parkinsonism, pre-synaptic dopaminergic dysfunction and hyperechogenicity of the substantia nigra. ( 28431629 )
2017
14
Downbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6. ( 28456860 )
2017
15
Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6. ( 28539669 )
2017
16
Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6. ( 26209844 )
2016
17
Polysomnography findings in spinocerebellar ataxia type 6. ( 27377205 )
2016
18
4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6. ( 27381005 )
2016
19
Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6. ( 27544504 )
2016
20
Spinocerebellar ataxia type 6 in eastern India: Some new observations. ( 27570389 )
2016
21
Impaired Spatio-Temporal Predictive Motor Timing Associated with Spinocerebellar Ataxia Type 6. ( 27571363 )
2016
22
Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6. ( 27779133 )
2016
23
Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs. ( 27806289 )
2016
24
Polyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6. ( 27979829 )
2016
25
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation. ( 25762895 )
2015
26
Decreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study. ( 26055313 )
2015
27
Sensorimotor processing for balance in spinocerebellar ataxia type 6. ( 25879732 )
2015
28
Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity. ( 26063920 )
2015
29
Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration. ( 26730403 )
2015
30
DnaJ-1 and karyopherin I+3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6. ( 25954029 )
2015
31
Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity. ( 25904859 )
2015
32
Segmentation of the Cerebellar Peduncles Using a Random Forest Classifier and a Multi-object Geometric Deformable Model: Application to Spinocerebellar Ataxia Type 6. ( 25749985 )
2015
33
Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model. ( 26034136 )
2015
34
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. ( 24898624 )
2014
35
[Clinical features and MRI findings in spinocerebellar ataxia type 31 (SCA31) comparing with spinocerebellar ataxia type 6 (SCA6)]. ( 24990830 )
2014
36
An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation. ( 26675662 )
2014
37
A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan. ( 25053188 )
2014
38
Macro- and Microstructural Changes in Patients with Spinocerebellar Ataxia Type 6: Assessment of Phylogenetic Subdivisions of the Cerebellum and the Brain Stem. ( 25169926 )
2014
39
Stance instability in spinocerebellar ataxia type 6. ( 23143967 )
2013
40
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6. ( 24301795 )
2013
41
Overlap syndrome comprised of systemic sclerosis and systemic lupus erythematosus associated with spinocerebellar ataxia type 6 and MALT lymphoma. ( 23306375 )
2013
42
Lower Urinary Tract Function in Spinocerebellar Ataxia 6. ( 26676458 )
2012
43
Spinocerebellar ataxia type 6. ( 21827907 )
2012
44
Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum. ( 22393909 )
2012
45
Visual Suppression is Impaired in Spinocerebellar Ataxia Type 6 but Preserved in Benign Paroxysmal Positional Vertigo. ( 26859398 )
2012
46
Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. ( 21550405 )
2011
47
The contribution of the cerebellum to cognition in Spinocerebellar Ataxia Type 6. ( 20714057 )
2010
48
The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. ( 20043227 )
2010
49
Spinocerebellar ataxia type 6: Systematic patho-anatomical study reveals different phylogenetically defined regions of the cerebellum and neural pathways undergo different evolutions of the degenerative process. ( 20113406 )
2010
50
The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6. ( 20460591 )
2010

Variations for Spinocerebellar Ataxia 6

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 6:

75
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Gly293Arg VAR_043825 rs121908215
2 CACNA1A p.Arg582Gln VAR_043826 rs121908217
3 CACNA1A p.Ala405Thr VAR_063685 rs121908245
4 CACNA1A p.Arg1663Gln VAR_063691 rs121908247
5 CACNA1A p.Asp1337Tyr VAR_080738

ClinVar genetic disease variations for Spinocerebellar Ataxia 6:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh37 Chromosome 19, 13470521: 13470521
2 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh38 Chromosome 19, 13359707: 13359707
3 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh37 Chromosome 19, 13419266: 13419266
4 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh38 Chromosome 19, 13308452: 13308452
5 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh37 Chromosome 19, 13346033: 13346033
6 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh38 Chromosome 19, 13235219: 13235219
7 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
8 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
9 CACNA1A NM_001127221.1(CACNA1A): c.4177G> A (p.Val1393Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727411 GRCh37 Chromosome 19, 13372340: 13372340
10 CACNA1A NM_001127221.1(CACNA1A): c.4177G> A (p.Val1393Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727411 GRCh38 Chromosome 19, 13261526: 13261526
11 CACNA1A NM_001127221.1(CACNA1A): c.904G> A (p.Asp302Asn) single nucleotide variant Likely pathogenic rs863224852 GRCh38 Chromosome 19, 13359680: 13359680
12 CACNA1A NM_001127221.1(CACNA1A): c.904G> A (p.Asp302Asn) single nucleotide variant Likely pathogenic rs863224852 GRCh37 Chromosome 19, 13470494: 13470494
13 CACNA1A NM_001127221.1(CACNA1A): c.*149_*151(21_30) NT expansion Pathogenic rs397514035 GRCh37 Chromosome 19, 13318709: 13318711
14 CACNA1A NM_001127221.1(CACNA1A): c.*149_*151(21_30) NT expansion Pathogenic rs397514035 GRCh38 Chromosome 19, 13207895: 13207897

Expression for Spinocerebellar Ataxia 6

Search GEO for disease gene expression data for Spinocerebellar Ataxia 6.

Pathways for Spinocerebellar Ataxia 6

GO Terms for Spinocerebellar Ataxia 6

Cellular components related to Spinocerebellar Ataxia 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.33 CACNA1A KCNA1 PDYN
2 nuclear matrix GO:0016363 9.26 ATXN3 ATXN7
3 neuronal cell body GO:0043025 9.13 CACNA1A KCNA1 PDYN
4 axon terminus GO:0043679 8.62 KCNA1 PDYN

Biological processes related to Spinocerebellar Ataxia 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.37 CACNA1A KCNA1
2 regulation of membrane potential GO:0042391 9.32 CACNA1A KCNA1
3 microtubule cytoskeleton organization GO:0000226 9.26 ATXN3 ATXN7
4 neuromuscular synaptic transmission GO:0007274 9.16 CACNA1A RIMBP2
5 neuromuscular process GO:0050905 8.96 CACNA1A KCNA1
6 chemical synaptic transmission GO:0007268 8.92 ATXN3 CACNA1A KCNA1 PDYN

Molecular functions related to Spinocerebellar Ataxia 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.16 CACNA1A KCNA1
2 voltage-gated ion channel activity GO:0005244 8.96 CACNA1A KCNA1
3 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.62 ATXN3 ATXN7

Sources for Spinocerebellar Ataxia 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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