MCID: SPN309
MIFTS: 49

Spinocerebellar Ataxia 6

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

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 16
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 all 28)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 30.7 ATXN3 ATXN7 CACNA1A
2 autosomal dominant cerebellar ataxia 28.2 ATXN3 ATXN7 CACNA1A KCNA1 PDYN
3 familial hemiplegic migraine 11.4
4 spinocerebellar ataxia, autosomal recessive 6 11.1
5 spinocerebellar ataxia 25 10.9
6 episodic ataxia, type 7 10.2 CACNA1A KCNA1
7 spinocerebellar ataxia 27 10.2 CACNA1A KCNA1
8 episodic ataxia, type 2 10.2 CACNA1A KCNA1
9 episodic ataxia, type 1 10.2 CACNA1A KCNA1
10 episodic ataxia 10.0 CACNA1A KCNA1
11 friedreich ataxia 1 10.0 ATXN3 CACNA1A
12 central nervous system disease 9.9 ATXN3 CACNA1A
13 spinal and bulbar muscular atrophy, x-linked 1 9.9 ATXN3 ATXN7
14 schizophrenia 9.9
15 aging 9.9
16 restless legs syndrome 9.8 ATXN3 CACNA1A
17 nervous system disease 9.7 ATXN3 CACNA1A
18 spinocerebellar ataxia 18 9.6 ATXN3 ATXN7 CACNA1A
19 spinocerebellar ataxia 17 9.6 ATXN3 ATXN7 CACNA1A
20 spinocerebellar ataxia 2 9.6 ATXN3 ATXN7 CACNA1A
21 spinocerebellar ataxia 12 9.6 ATXN3 ATXN7 CACNA1A
22 epilepsy, idiopathic generalized 9.6 CACNA1A KCNA1
23 dentatorubral-pallidoluysian atrophy 9.5 ATXN3 ATXN7 CACNA1A
24 machado-joseph disease 9.5 ATXN3 ATXN7 CACNA1A
25 hereditary ataxia 9.1 ATXN3 ATXN7 CACNA1A KCNA1
26 spinocerebellar ataxia 31 8.9 ATXN3 ATXN7 CACNA1A PDYN
27 cerebellar disease 8.9 ATXN3 ATXN7 CACNA1A PDYN
28 aceruloplasminemia 8.9 ATXN3 ATXN7 CACNA1A PDYN

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

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 RIMBP2 ATXN3 ATXN7 CACNA1A KCNA1 PDYN

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 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
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 The EUROSCA Natural History Study Recruiting NCT02440763
9 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, Brain

Publications for Spinocerebellar Ataxia 6

Articles related to Spinocerebellar Ataxia 6:

(show top 50) (show all 125)
# Title Authors Year
1
Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. ( 28131213 )
2017
2
Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient Induced Pluripotent Stem Cells. ( 28946818 )
2017
3
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation. ( 25762895 )
2015
4
Decreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study. ( 26055313 )
2015
5
Sensorimotor processing for balance in spinocerebellar ataxia type 6. ( 25879732 )
2015
6
Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity. ( 26063920 )
2015
7
Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration. ( 26730403 )
2015
8
DnaJ-1 and karyopherin I+3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6. ( 25954029 )
2015
9
Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity. ( 25904859 )
2015
10
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
11
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. ( 24898624 )
2014
12
[Clinical features and MRI findings in spinocerebellar ataxia type 31 (SCA31) comparing with spinocerebellar ataxia type 6 (SCA6)]. ( 24990830 )
2014
13
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
14
A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan. ( 25053188 )
2014
15
Macro- and Microstructural Changes in Patients with Spinocerebellar Ataxia Type 6: Assessment of Phylogenetic Subdivisions of the Cerebellum and the Brain Stem. ( 25169926 )
2014
16
Stance instability in spinocerebellar ataxia type 6. ( 23143967 )
2013
17
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6. ( 24301795 )
2013
18
Overlap syndrome comprised of systemic sclerosis and systemic lupus erythematosus associated with spinocerebellar ataxia type 6 and MALT lymphoma. ( 23306375 )
2013
19
Lower Urinary Tract Function in Spinocerebellar Ataxia 6. ( 26676458 )
2012
20
Spinocerebellar ataxia type 6. ( 21827907 )
2012
21
Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum. ( 22393909 )
2012
22
Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. ( 21550405 )
2011
23
The contribution of the cerebellum to cognition in Spinocerebellar Ataxia Type 6. ( 20714057 )
2010
24
The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. ( 20043227 )
2010
25
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
26
The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6. ( 20460591 )
2010
27
A neuropathological study at autopsy of early onset spinocerebellar ataxia 6. ( 20359894 )
2010
28
The p62 antibody reveals various cytoplasmic protein aggregates in spinocerebellar ataxia type 6. ( 19788049 )
2009
29
Deficit of heat shock transcription factor 1-heat shock 70 kDa protein 1A axis determines the cell death vulnerability in a model of spinocerebellar ataxia type 6. ( 19817876 )
2009
30
Spinocerebellar ataxia type 6 (SCA6): clinical pilot trial with gabapentin. ( 19157422 )
2009
31
Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites. ( 19207264 )
2009
32
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6. ( 19224313 )
2009
33
Spinocerebellar ataxia type 6 in Brazil. ( 18949263 )
2008
34
Prefrontal hypoperfusion and cognitive dysfunction correlates in spinocerebellar ataxia type 6. ( 18466924 )
2008
35
Cognitive impairment in spinocerebellar ataxia type 6. ( 17682009 )
2008
36
Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6. ( 18687731 )
2008
37
A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study. ( 18588381 )
2008
38
Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6. ( 19145126 )
2008
39
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. ( 18687887 )
2008
40
Cell-type-specific alternative splicing in spinocerebellar ataxia type 6. ( 18835329 )
2008
41
Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6. ( 18074367 )
2008
42
Toxicity and endocytosis of spinocerebellar ataxia type 6 polyglutamine domains: role of myosin IIb. ( 18384641 )
2008
43
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. ( 18413478 )
2008
44
The P/Q-type voltage-dependent calcium channel: a therapeutic target in spinocerebellar ataxia type 6. ( 17489948 )
2007
45
Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells. ( 17188510 )
2007
46
Molecular pathogenesis of spinocerebellar ataxia type 6. ( 17395139 )
2007
47
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit. ( 16899342 )
2007
48
Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6. ( 16638506 )
2006
49
Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case. ( 16310805 )
2006
50
Evaluation of sleep and daytime somnolence in spinocerebellar ataxia type 6 (SCA6). ( 16682680 )
2006

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.Ala405Thr VAR_063685 rs121908245
3 CACNA1A p.Arg1664Gln VAR_063691 rs121908247

ClinVar genetic disease variations for Spinocerebellar Ataxia 6:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127222.1(CACNA1A): c.6937_6939CAG(6_17) (p.Gln2319_Gln2325del) NT expansion Pathogenic rs193922932 GRCh37 Chromosome 19, 13318673: 13318675
2 CACNA1A NM_001127222.1(CACNA1A): c.6937_6939CAG(6_17) (p.Gln2319_Gln2325del) NT expansion Pathogenic rs193922932 GRCh38 Chromosome 19, 13207859: 13207861
3 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh37 Chromosome 19, 13470521: 13470521
4 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh38 Chromosome 19, 13359707: 13359707
5 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh37 Chromosome 19, 13419266: 13419266
6 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh38 Chromosome 19, 13308452: 13308452
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 Pathogenic/Likely pathogenic rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
10 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
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

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 synapse GO:0045202 9.43 CACNA1A KCNA1 RIMBP2
2 dendrite GO:0030425 9.33 CACNA1A KCNA1 PDYN
3 nuclear matrix GO:0016363 9.32 ATXN3 ATXN7
4 axon terminus GO:0043679 8.96 KCNA1 PDYN
5 neuronal cell body GO:0043025 8.8 CACNA1A 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 membrane potential GO:0042391 9.32 CACNA1A KCNA1
2 microtubule cytoskeleton organization GO:0000226 9.26 ATXN3 ATXN7
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 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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