SCA6
MCID: SPN309
MIFTS: 49

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 58 54 76 30 13 6
Spinocerebellar Ataxia Type 6 12 25 54 26 60 56 15 74
Sca6 58 54 26 60 76
Ataxia, Spinocerebellar, Type 6 41
Type 6 Spinocerebellar Ataxia 26
Sca 6 25

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
spinocerebellar ataxia 6:
Inheritance genetic anticipation autosomal dominant inheritance
Onset and clinical course progressive


GeneReviews:

25
Penetrance Penetrance is nearly 100%, although symptoms may not appear until the seventh decade...

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 6

NIH Rare Diseases : 54 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 autosomal dominant cerebellar 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 gait ataxia and intention tremor

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has material basis in mutation in the CACNA1A gene.

Genetics Home Reference : 26 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 : 76 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 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, Autosomal Recessive 27
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 55)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.8 ATXN3 CACNA1A
2 autosomal dominant cerebellar ataxia 30.9 ATXN3 CACNA1A
3 dentatorubral-pallidoluysian atrophy 30.5 ATXN3 CACNA1A
4 machado-joseph disease 30.4 ATXN3 CACNA1A
5 episodic ataxia 30.4 CACNA1A KCNA1
6 episodic ataxia, type 2 30.1 CACNA1A KCNA1
7 aceruloplasminemia 30.1 ATXN3 CACNA1A PDYN
8 familial hemiplegic migraine 11.6
9 spinocerebellar ataxia, autosomal recessive 6 11.3
10 spinocerebellar ataxia 25 11.1
11 hemiplegic migraine 10.3
12 migraine, familial hemiplegic, 1 10.2
13 dystonia 10.2
14 episodic ataxia, type 7 10.1 CACNA1A KCNA1
15 spinocerebellar ataxia 8 10.1
16 spinocerebellar ataxia 27 10.1 CACNA1A KCNA1
17 episodic ataxia, type 1 10.1 CACNA1A KCNA1
18 spinocerebellar ataxia 18 10.1 ATXN3 CACNA1A
19 spinocerebellar ataxia 2 10.1 ATXN3 CACNA1A
20 primary cerebellar degeneration 10.1 ATXN3 CACNA1A
21 lymphoma, mucosa-associated lymphoid type 10.1
22 systemic lupus erythematosus 10.1
23 migraine with or without aura 1 10.1
24 scleroderma, familial progressive 10.1
25 vertigo, benign recurrent 10.1
26 episodic ataxia, type 6 10.1
27 restless legs syndrome 10.1
28 focal dystonia 10.1
29 lymphoma 10.1
30 dementia 10.1
31 benign paroxysmal positional nystagmus 10.1
32 olivopontocerebellar atrophy 10.1
33 lupus erythematosus 10.1
34 cerebellar degeneration 10.1
35 sporadic hemiplegic migraine 10.1
36 tremor 10.1
37 dysphagia 10.1
38 sporadic adult-onset ataxia of unknown etiology 10.1
39 spinocerebellar ataxia 17 10.1 ATXN3 CACNA1A
40 spinocerebellar ataxia 12 10.0 ATXN3 CACNA1A
41 schizophrenia 10.0
42 ataxia and polyneuropathy, adult-onset 10.0
43 friedreich ataxia 1 10.0 ATXN3 CACNA1A
44 retinitis pigmentosa 10.0
45 leber congenital amaurosis 4 10.0
46 spinocerebellar ataxia 26 10.0
47 retinitis 10.0
48 pathologic nystagmus 10.0
49 epilepsy, idiopathic generalized 10.0 CACNA1A KCNA1
50 autosomal genetic disease 10.0 ATXN3 CACNA1A

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



Diseases related to Spinocerebellar Ataxia 6

Symptoms & Phenotypes for Spinocerebellar Ataxia 6

Human phenotypes related to Spinocerebellar Ataxia 6:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
2 intention tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0002080
3 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
4 incoordination 60 33 hallmark (90%) Very frequent (99-80%) HP:0002311
5 postural instability 60 33 hallmark (90%) Very frequent (99-80%) HP:0002172
6 unsteady gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002317
7 gaze-evoked horizontal nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0007979
8 bradyopsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0030511
9 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651
10 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
11 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
12 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
13 vertical nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0010544
14 choking episodes 60 33 frequent (33%) Frequent (79-30%) HP:0030842
15 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
16 blepharospasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0000643
17 migraine 33 occasional (7.5%) HP:0002076
18 nystagmus 60 Very frequent (99-80%)
19 abnormality of vision 60 Frequent (79-30%)
20 sensory neuropathy 33 HP:0000763
21 dystonia 60 Occasional (29-5%)
22 cerebellar atrophy 33 HP:0001272
23 abnormal vestibulo-ocular reflex 33 HP:0007670
24 impaired smooth pursuit 33 HP:0007772
25 gaze-evoked nystagmus 33 HP:0000640

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Spinocerebellar Ataxia 6:


cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 ATXN3 CACNA1A KCNA1 PDYN RIMBP2

Drugs & Therapeutics for Spinocerebellar Ataxia 6

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Troriluzole in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT03701399 Phase 3 troriluzole;Placebos
2 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
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 30 CACNA1A

Anatomical Context for Spinocerebellar Ataxia 6

MalaCards organs/tissues related to Spinocerebellar Ataxia 6:

42
Eye, Cerebellum, Spinal Cord, Brain, Cortex, Skin, Liver

Publications for Spinocerebellar Ataxia 6

Articles related to Spinocerebellar Ataxia 6:

(show top 50) (show all 163)
# Title Authors Year
1
Beneficial effects of cerebellar rTMS stimulation on a patient with spinocerebellar ataxia type 6. ( 30594491 )
2019
2
Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia. ( 28961751 )
2018
3
Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6. ( 29374372 )
2018
4
Erratum to: Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. ( 29637516 )
2018
5
Author Correction: Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6. ( 29712974 )
2018
6
Transcranial magnetic stimulation for diplopia in a patient with spinocerebellar ataxia type 6: a case report. ( 30479783 )
2018
7
Progression of Dysphagia in Spinocerebellar Ataxia Type 6. ( 28042641 )
2017
8
Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6. ( 27352359 )
2017
9
Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. ( 27531396 )
2017
10
Cognitive dysfunction in patients with spinocerebellar ataxia type 6. ( 27878440 )
2017
11
Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs. ( 28122232 )
2017
12
Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. ( 28131213 )
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
Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells. ( 28946818 )
2017
17
Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6. ( 26209844 )
2016
18
Polysomnography findings in spinocerebellar ataxia type 6. ( 27377205 )
2016
19
4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6. ( 27381005 )
2016
20
Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6. ( 27544504 )
2016
21
Spinocerebellar ataxia type 6 in eastern India: Some new observations. ( 27570389 )
2016
22
Impaired Spatio-Temporal Predictive Motor Timing Associated with Spinocerebellar Ataxia Type 6. ( 27571363 )
2016
23
Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6. ( 27779133 )
2016
24
Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs. ( 27806289 )
2016
25
Polyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6. ( 27979829 )
2016
26
Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration. ( 26730403 )
2015
27
Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity. ( 25904859 )
2015
28
Macro- and microstructural changes in patients with spinocerebellar ataxia type 6: assessment of phylogenetic subdivisions of the cerebellum and the brain stem. ( 25169926 )
2015
29
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
30
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation. ( 25762895 )
2015
31
Sensorimotor processing for balance in spinocerebellar ataxia type 6. ( 25879732 )
2015
32
DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6. ( 25954029 )
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
Decreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study. ( 26055313 )
2015
35
Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity. ( 26063920 )
2015
36
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. ( 24898624 )
2014
37
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
38
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6. ( 24301795 )
2014
39
A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan. ( 25053188 )
2014
40
[Clinical features and MRI findings in spinocerebellar ataxia type 31 (SCA31) comparing with spinocerebellar ataxia type 6 (SCA6)]. ( 24990830 )
2014
41
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. ( 24418350 )
2014
42
Overlap syndrome comprised of systemic sclerosis and systemic lupus erythematosus associated with spinocerebellar ataxia type 6 and MALT lymphoma. ( 23306375 )
2013
43
Stance instability in spinocerebellar ataxia type 6. ( 23143967 )
2013
44
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. ( 23827678 )
2013
45
Lower Urinary Tract Function in Spinocerebellar Ataxia 6. ( 26676458 )
2012
46
Spinocerebellar ataxia type 6. ( 21827907 )
2012
47
Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum. ( 22393909 )
2012
48
Visual Suppression is Impaired in Spinocerebellar Ataxia Type 6 but Preserved in Benign Paroxysmal Positional Vertigo. ( 26859398 )
2012
49
Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. ( 21550405 )
2011
50
A neuropathological study at autopsy of early onset spinocerebellar ataxia 6. ( 20359894 )
2010

Variations for Spinocerebellar Ataxia 6

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

76
# 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 46)
# 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.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909324 GRCh37 Chromosome 19, 13366031: 13366031
6 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909324 GRCh38 Chromosome 19, 13255217: 13255217
7 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh37 Chromosome 19, 13346033: 13346033
8 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh38 Chromosome 19, 13235219: 13235219
9 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
10 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
11 CACNA1A NM_001127221.1(CACNA1A): c.4177G> A (p.Val1393Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727411 GRCh37 Chromosome 19, 13372340: 13372340
12 CACNA1A NM_001127221.1(CACNA1A): c.4177G> A (p.Val1393Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727411 GRCh38 Chromosome 19, 13261526: 13261526
13 CACNA1A NM_001127221.1(CACNA1A): c.593G> A (p.Arg198Gln) single nucleotide variant Uncertain significance rs797045424 GRCh38 Chromosome 19, 13371726: 13371726
14 CACNA1A NM_001127221.1(CACNA1A): c.593G> A (p.Arg198Gln) single nucleotide variant Uncertain significance rs797045424 GRCh37 Chromosome 19, 13482540: 13482540
15 CACNA1A NM_001127221.1(CACNA1A): c.904G> A (p.Asp302Asn) single nucleotide variant Likely pathogenic rs863224852 GRCh38 Chromosome 19, 13359680: 13359680
16 CACNA1A NM_001127221.1(CACNA1A): c.904G> A (p.Asp302Asn) single nucleotide variant Likely pathogenic rs863224852 GRCh37 Chromosome 19, 13470494: 13470494
17 CACNA1A NM_001127221.1(CACNA1A): c.2137G> A (p.Ala713Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886037945 GRCh37 Chromosome 19, 13414398: 13414398
18 CACNA1A NM_001127221.1(CACNA1A): c.2137G> A (p.Ala713Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886037945 GRCh38 Chromosome 19, 13303584: 13303584
19 CACNA1A NM_001127221.1(CACNA1A): c.6611A> G (p.Lys2204Arg) single nucleotide variant Uncertain significance rs1057521770 GRCh37 Chromosome 19, 13319742: 13319742
20 CACNA1A NM_001127221.1(CACNA1A): c.6611A> G (p.Lys2204Arg) single nucleotide variant Uncertain significance rs1057521770 GRCh38 Chromosome 19, 13208928: 13208928
21 CACNA1A NM_001127221.1(CACNA1A): c.4046G> A (p.Arg1349Gln) single nucleotide variant Pathogenic rs1057520918 GRCh37 Chromosome 19, 13373594: 13373594
22 CACNA1A NM_001127221.1(CACNA1A): c.4046G> A (p.Arg1349Gln) single nucleotide variant Pathogenic rs1057520918 GRCh38 Chromosome 19, 13262780: 13262780
23 CACNA1A NM_001127221.1(CACNA1A): c.6128C> T (p.Thr2043Met) single nucleotide variant Uncertain significance rs563345694 GRCh37 Chromosome 19, 13323262: 13323262
24 CACNA1A NM_001127221.1(CACNA1A): c.6128C> T (p.Thr2043Met) single nucleotide variant Uncertain significance rs563345694 GRCh38 Chromosome 19, 13212448: 13212448
25 CACNA1A NM_001127221.1(CACNA1A): c.6508C> T (p.Arg2170Cys) single nucleotide variant Uncertain significance rs375354077 GRCh38 Chromosome 19, 13209333: 13209333
26 CACNA1A NM_001127221.1(CACNA1A): c.6508C> T (p.Arg2170Cys) single nucleotide variant Uncertain significance rs375354077 GRCh37 Chromosome 19, 13320147: 13320147
27 CACNA1A NM_001127221.1(CACNA1A): c.6469C> T (p.Arg2157Cys) single nucleotide variant Uncertain significance rs554393704 GRCh38 Chromosome 19, 13209372: 13209372
28 CACNA1A NM_001127221.1(CACNA1A): c.6469C> T (p.Arg2157Cys) single nucleotide variant Uncertain significance rs554393704 GRCh37 Chromosome 19, 13320186: 13320186
29 CACNA1A NM_001127221.1(CACNA1A): c.3413C> G (p.Pro1138Arg) single nucleotide variant Uncertain significance rs200333359 GRCh37 Chromosome 19, 13397460: 13397460
30 CACNA1A NM_001127221.1(CACNA1A): c.3413C> G (p.Pro1138Arg) single nucleotide variant Uncertain significance rs200333359 GRCh38 Chromosome 19, 13286646: 13286646
31 CACNA1A NM_001127221.1(CACNA1A): c.3637G> T (p.Asp1213Tyr) single nucleotide variant Uncertain significance rs201269793 GRCh37 Chromosome 19, 13395940: 13395940
32 CACNA1A NM_001127221.1(CACNA1A): c.3637G> T (p.Asp1213Tyr) single nucleotide variant Uncertain significance rs201269793 GRCh38 Chromosome 19, 13285126: 13285126
33 CACNA1A NM_000068.3(CACNA1A): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs750077868 GRCh37 Chromosome 19, 13320221: 13320221
34 CACNA1A NM_000068.3(CACNA1A): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs750077868 GRCh38 Chromosome 19, 13209407: 13209407
35 CACNA1A NM_000068.3(CACNA1A): c.2902C> T (p.Pro968Ser) single nucleotide variant Uncertain significance rs1383144531 GRCh37 Chromosome 19, 13409557: 13409557
36 CACNA1A NM_000068.3(CACNA1A): c.2902C> T (p.Pro968Ser) single nucleotide variant Uncertain significance rs1383144531 GRCh38 Chromosome 19, 13298743: 13298743
37 CACNA1A NM_001127221.1(CACNA1A): c.2927G> T (p.Arg976Leu) single nucleotide variant Uncertain significance rs748418783 GRCh37 Chromosome 19, 13409523: 13409523
38 CACNA1A NM_001127221.1(CACNA1A): c.2927G> T (p.Arg976Leu) single nucleotide variant Uncertain significance rs748418783 GRCh38 Chromosome 19, 13298709: 13298709
39 CACNA1A NM_001127221.1(CACNA1A): c.2108-15C> T single nucleotide variant Uncertain significance rs190471428 GRCh37 Chromosome 19, 13414442: 13414442
40 CACNA1A NM_001127221.1(CACNA1A): c.2108-15C> T single nucleotide variant Uncertain significance rs190471428 GRCh38 Chromosome 19, 13303628: 13303628
41 CACNA1A NM_001127221.1(CACNA1A): c.*149_*151(21_30) NT expansion Pathogenic GRCh37 Chromosome 19, 13318709: 13318711
42 CACNA1A NM_001127221.1(CACNA1A): c.*149_*151(21_30) NT expansion Pathogenic GRCh38 Chromosome 19, 13207895: 13207897
43 CACNA1A NM_001127221.1(CACNA1A): c.3313_3318dup (p.Pro1106_Met1107insGlyPro) duplication Uncertain significance GRCh38 Chromosome 19, 13286741: 13286746
44 CACNA1A NM_001127221.1(CACNA1A): c.3313_3318dup (p.Pro1106_Met1107insGlyPro) duplication Uncertain significance GRCh37 Chromosome 19, 13397555: 13397560
45 CACNA1A NM_001127221.1(CACNA1A): c.4012G> T (p.Asp1338Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 13262814: 13262814
46 CACNA1A NM_001127221.1(CACNA1A): c.4012G> T (p.Asp1338Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 13373628: 13373628

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 neuronal cell body GO:0043025 9.13 CACNA1A KCNA1 PDYN
3 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 9.32 CACNA1A KCNA1
2 regulation of membrane potential GO:0042391 9.26 CACNA1A KCNA1
3 neuromuscular synaptic transmission GO:0007274 9.16 CACNA1A RIMBP2
4 neuromuscular process GO:0050905 8.96 CACNA1A KCNA1
5 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 8.96 CACNA1A KCNA1
2 voltage-gated ion channel activity GO:0005244 8.62 CACNA1A KCNA1

Sources for Spinocerebellar Ataxia 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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