SCA13
MCID: SPN311
MIFTS: 48

Spinocerebellar Ataxia 13 (SCA13)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 13

MalaCards integrated aliases for Spinocerebellar Ataxia 13:

Name: Spinocerebellar Ataxia 13 57 20 72 13 70
Spinocerebellar Ataxia Type 13 12 25 20 58 29 6 15
Sca13 57 25 20 58 72
Ataxia, Spinocerebellar, Type 13 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 13
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slow disease progression
variable age at onset, ranging from childhood to late adulthood


HPO:

31
spinocerebellar ataxia 13:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


GeneReviews:

25
Penetrance Kcnc3 pathogenic variants appear to be fully penetrant in the families described. (see table 8 for relevant publications.)

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 13

GARD : 20 Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias (SCA), a group of neurological diseases that causes degeneration of the brain and spinal cord. The age when symptoms begin and the type and severity of symptoms of SCA13 can be different from person to person even in the same family. In almost every case, the disease progresses very slowly and does not affect a person's life span. Symptoms most commonly begin in early childhood or later in midlife, but can range from infancy to 60. The childhood forms is often least progressive, but may also include mild to moderate learning problems, taking longer to learn to crawl, walk, or run (delayed development of motor skills), and seizures. The main symptoms of SCA13 include difficulties coordinating movements ( ataxia ), especially walking; abnormal eye movements ( nystagmus ); mild to moderate intellectual disability ; and involuntary muscle jerks or twitches (myoclonic jerks). Other symptoms may include speech difficulty ( dysarthria ), difficulty eating ( dysphagia ), slowness of movements (bradykinesia), mild bladder problems, stiff and brisk deep tendon reflexes, and loss of the sense of vibration. SCA13 is caused by changes or mutations in the KCNC3 gene and it is inherited in an autosomal dominant manner. Since the symptoms of SCA13 can be similar to other types of SCA, genetic testing is used to confirm the diagnosis. In addition, unlike most of the other SCA's, a brain MRI will find loss of brain cells (neurons) in the part of the brain that helps control movement ( cerebellum ), but no noticeable loss of brain cells in the brain stem or the part of the brain important to higher levels of thinking ( cerebral cortex ). Treatment may include anti-seizure medications, special assistance in school, speech therapy and communication devices, and/or, later in the disease, aids to help with walking such as a canes and walkers. Normal activity and exercise are recommended. Maintaining a healthy weight may help keep a person walking without assistance longer. The use of alcohol may increase the severity of the uncoordinated movements (ataxia).

MalaCards based summary : Spinocerebellar Ataxia 13, also known as spinocerebellar ataxia type 13, is related to autosomal dominant cerebellar ataxia and cerebellar disease, and has symptoms including gait ataxia and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 13 is KCNC3 (Potassium Voltage-Gated Channel Subfamily C Member 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has material basis in mutation in the KCNC3 gene.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 13: 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. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients.

More information from OMIM: 605259 PS164400
GeneReviews: NBK1225

Related Diseases for Spinocerebellar Ataxia 13

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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.7 TTBK2 SPTBN2 KCND3 KCNC3 KCNA1 FGF14
2 cerebellar disease 28.9 TTBK2 SPTBN2 SNX14 KCND3 KCNC3 FGF14
3 spinocerebellar ataxia, autosomal recessive 13 11.6
4 ataxia and polyneuropathy, adult-onset 10.4
5 alacrima, achalasia, and mental retardation syndrome 10.2
6 cerebellar ataxia type 41 10.2 KCND3 KCNC3
7 cerebral palsy, ataxic, autosomal recessive 10.2 SPTBN2 KCNC3
8 cerebellar ataxia type 42 10.2 KCND3 KCNC3
9 spastic paraplegia 41, autosomal dominant 10.1 SPTBN2 KCND3
10 episodic ataxia, type 6 10.1 SPTBN2 KCNC3
11 far eastern spotted fever 10.1 SPTBN2 KCNC3
12 spinocerebellar ataxia 23 10.1 SPTBN2 KCNC3
13 spinocerebellar atrophy 10.1
14 episodic ataxia, type 2 10.0 SPTBN2 KCNC3 KCNA1
15 restless legs syndrome 10.0
16 sleep apnea 10.0
17 sensory peripheral neuropathy 10.0
18 sleep disorder 10.0
19 pathologic nystagmus 10.0
20 spastic paraplegia 25, autosomal recessive 10.0 TTBK2 FGF14
21 spinocerebellar ataxia 20 10.0 SPTBN2 SNX14
22 spinocerebellar ataxia 15 10.0 TTBK2 SPTBN2 KCNC3
23 lingual-facial-buccal dyskinesia 10.0 KCNC3 FGF14
24 spastic paraplegia 34, x-linked 10.0 TTBK2 FGF14
25 marinesco-sjogren syndrome 10.0 SPTBN2 KCNC3
26 spinocerebellar ataxia type 19/22 9.9 KCND3 KCNC1 FGF14
27 spinocerebellar ataxia 21 9.9 TTBK2 FGF14
28 cerebellar hypoplasia 9.9
29 epilepsy 9.9
30 temporal lobe epilepsy 9.9
31 movement disease 9.9
32 cerebellar degeneration 9.9
33 autonomic dysfunction 9.9
34 dysphagia 9.9
35 myoclonus 9.9
36 spasticity 9.9
37 episodic ataxia, type 1 9.8 KCND3 KCNC4 KCNC3 KCNC1 KCNA1
38 cerebellar ataxia type 9 9.7 SPTBN2 KCND3 KCNC3 FGF14
39 benign familial neonatal epilepsy 9.7 KCNB2 KCNA1
40 early infantile epileptic encephalopathy 9.7 SPTBN2 KCNC1 KCNA1 FGF14
41 spinocerebellar ataxia 30 9.7 TTBK2 SPTBN2 KCND3 FGF14
42 dentatorubral-pallidoluysian atrophy 9.5 TTBK2 SPTBN2 KCND3 KCNC3 FGF14
43 episodic ataxia 9.4 SPTBN2 KCND3 KCNC3 KCNC1 KCNA1 FGF14
44 brugada syndrome 9.4 KCND3 KCNC1 KCNB2
45 hereditary ataxia 9.0 TTBK2 SPTBN2 SNX14 KCND3 KCNC3 KCNA1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 13:



Diseases related to Spinocerebellar Ataxia 13

Symptoms & Phenotypes for Spinocerebellar Ataxia 13

Human phenotypes related to Spinocerebellar Ataxia 13:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
5 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
6 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
7 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
8 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
11 impaired visuospatial constructive cognition 58 31 frequent (33%) Frequent (79-30%) HP:0010794
12 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
13 impaired distal vibration sensation 58 31 frequent (33%) Frequent (79-30%) HP:0006886
14 titubation 58 31 frequent (33%) Frequent (79-30%) HP:0030187
15 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
16 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
17 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
18 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
19 optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000543
20 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
21 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
22 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
23 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
24 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
25 urinary urgency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000012
26 jerky ocular pursuit movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0008003
27 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
28 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
29 bradykinesia 58 31 very rare (1%) Very rare (<4-1%) HP:0002067
30 upgaze palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0025331
31 seizure 31 very rare (1%) HP:0001250
32 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
33 intellectual disability 31 HP:0001249
34 seizures 58 Very rare (<4-1%)
35 abnormal pyramidal sign 31 HP:0007256
36 progressive cerebellar ataxia 31 HP:0002073
37 limb dysmetria 31 HP:0002406
38 morphological abnormality of the pyramidal tract 31 HP:0002062
39 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
gait ataxia
cerebellar atrophy
progressive cerebellar ataxia
more
Head And Neck Ears:
hearing impairment (1 patient)

Head And Neck Eyes:
nystagmus (1 patient)
optic atrophy (1 family)
jerky smooth pursuit (1 family)

Genitourinary Bladder:
bladder control problems (in some patients)

Clinical features from OMIM®:

605259 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia 13:


gait ataxia; abnormal pyramidal signs

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 FGF14 HAX1 KCNA1 KCNB2 KCNC1 KCNC2
2 nervous system MP:0003631 9.23 FGF14 HAX1 KCNA1 KCNC1 KCNC2 KCNC3

Drugs & Therapeutics for Spinocerebellar Ataxia 13

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 13

Genetic Tests for Spinocerebellar Ataxia 13

Genetic tests related to Spinocerebellar Ataxia 13:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 13 29 KCNC3

Anatomical Context for Spinocerebellar Ataxia 13

MalaCards organs/tissues related to Spinocerebellar Ataxia 13:

40
Brain, Eye, Cerebellum, Spinal Cord, Liver, Cortex, Temporal Lobe

Publications for Spinocerebellar Ataxia 13

Articles related to Spinocerebellar Ataxia 13:

(show all 44)
# Title Authors PMID Year
1
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. 57 6 25 61
10820125 2000
2
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. 6 25 57
16501573 2006
3
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? 6 25 57
16135769 2005
4
De novo point mutations in patients diagnosed with ataxic cerebral palsy. 57 6
25981959 2015
5
Exome sequencing in undiagnosed inherited and sporadic ataxias. 57 6
25497598 2015
6
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. 57 25 61
23912307 2013
7
SCA13 causes dominantly inherited non-progressive myoclonus ataxia. 20 25 61
28216058 2017
8
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity. 25 61
29949095 2018
9
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases. 25 61
25756792 2015
10
Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). 61 25
23215817 2013
11
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. 25 61
22289912 2012
12
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). 61 25
21479265 2011
13
Sca13. 25 61
18592334 2008
14
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. 25
29482223 2018
15
The cerebellar cognitive affective/Schmahmann syndrome scale. 25
29206893 2018
16
Scales for the clinical evaluation of cerebellar disorders. 25
29903450 2018
17
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. 25
28444220 2017
18
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. 25
28467418 2017
19
Timing, rates and spectra of human germline mutation. 25
26656846 2016
20
Therapies for ataxias. 25
24832479 2014
21
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. 25
24030952 2013
22
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. 25
19953606 2010
23
The role of Kv3-type potassium channels in cerebellar physiology and behavior. 25
19247732 2009
24
Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family. 61
32894899 2020
25
Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo. 61
32644043 2020
26
Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System. 61
30862666 2019
27
Kv3.3 potassium channels and spinocerebellar ataxia. 61
26442672 2016
28
Actin'g against the Ball and Chain. 61
27046828 2016
29
Spectrum of sleep disorders in a patient with spinocerebellar ataxia 13. 61
25406272 2015
30
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. 61
25152487 2014
31
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells. 61
24218544 2014
32
Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. 61
23734863 2013
33
Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population. 61
23293936 2013
34
Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. 61
24116147 2013
35
Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development. 61
22736459 2012
36
Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H). 61
22933745 2012
37
Spinocerebellar ataxia 13 and 25. 61
21827913 2012
38
Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish. 61
21543613 2011
39
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. 61
20712895 2010
40
Kv3.3 immunoreactivity in the vestibular nuclear complex of the rat with focus on the medial vestibular nucleus: targeting of Kv3.3 neurones by terminals positive for vesicular glutamate transporter 1. 61
20471378 2010
41
Purkinje-cell-restricted restoration of Kv3.3 function restores complex spikes and rescues motor coordination in Kcnc3 mutants. 61
18448641 2008
42
Distribution of Kv3.3 potassium channel subunits in distinct neuronal populations of mouse brain. 61
17444489 2007
43
Spinocerebellar Ataxia Type 13 61
20301404 2006
44
Spinocerebellar ataxia with mental retardation (SCA13). 61
15895558 2005

Variations for Spinocerebellar Ataxia 13

ClinVar genetic disease variations for Spinocerebellar Ataxia 13:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNC3 NM_004977.2(KCNC3):c.1259G>A (p.Arg420His) SNV Pathogenic 13473 rs104894699 GRCh37: 19:50826951-50826951
GRCh38: 19:50323694-50323694
2 KCNC3 NM_004977.2(KCNC3):c.1344C>A (p.Phe448Leu) SNV Pathogenic 13474 rs104894700 GRCh37: 19:50826866-50826866
GRCh38: 19:50323609-50323609
3 KCNC3 NM_004977.2(KCNC3):c.1283C>T (p.Thr428Ile) SNV Pathogenic 245604 rs879253883 GRCh37: 19:50826927-50826927
GRCh38: 19:50323670-50323670
4 KCNC3 NM_004977.3(KCNC3):c.1268G>A SNV Pathogenic 208671 rs797044872 GRCh37: 19:50826942-50826942
GRCh38: 19:50323685-50323685
5 KCNC3 NM_004977.2(KCNC3):c.11_12del (p.Ser4fs) Deletion Pathogenic 522615 rs1555781806 GRCh37: 19:50832328-50832329
GRCh38: 19:50329071-50329072
6 KCNC3 NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly) SNV Likely pathogenic 976029 GRCh37: 19:50826987-50826987
GRCh38: 19:50323730-50323730
7 KCNC3 NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp) SNV Uncertain significance 1029909 GRCh37: 19:50832200-50832200
GRCh38: 19:50328943-50328943
8 KCNC3 NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu) SNV Uncertain significance 1064691 GRCh37: 19:50826360-50826360
GRCh38: 19:50323103-50323103
9 KCNC3 NM_004977.2(KCNC3):c.991G>A (p.Gly331Arg) SNV Uncertain significance 586086 rs1305901422 GRCh37: 19:50827219-50827219
GRCh38: 19:50323962-50323962
10 KCNC3 NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly) SNV Uncertain significance 803574 rs1601098237 GRCh37: 19:50826627-50826627
GRCh38: 19:50323370-50323370
11 KCNC3 NM_004977.3(KCNC3):c.1737_1745ACCCCCGCC[1] (p.Pro583_Pro585del) Microsatellite Likely benign 803573 rs747618525 GRCh37: 19:50826456-50826464
GRCh38: 19:50323199-50323207
12 KCNC3 NM_004977.2(KCNC3):c.1884G>A (p.Ala628=) SNV Likely benign 522271 rs552133569 GRCh37: 19:50826326-50826326
GRCh38: 19:50323069-50323069
13 KCNC3 NM_004977.2(KCNC3):c.315G>C (p.Thr105=) SNV Likely benign 447624 rs368049323 GRCh37: 19:50832025-50832025
GRCh38: 19:50328768-50328768
14 KCNC3 NM_004977.2(KCNC3):c.1641G>A (p.Ser547=) SNV Benign/Likely benign 288175 rs2301357 GRCh37: 19:50826569-50826569
GRCh38: 19:50323312-50323312
15 KCNC3 NM_004977.2(KCNC3):c.2170+14C>T SNV Benign/Likely benign 522270 rs189018316 GRCh37: 19:50823836-50823836
GRCh38: 19:50320579-50320579
16 KCNC3 NM_004977.2(KCNC3):c.1929C>T (p.Gly643=) SNV Benign 288184 rs111744086 GRCh37: 19:50826281-50826281
GRCh38: 19:50323024-50323024
17 KCNC3 NM_004977.2(KCNC3):c.188A>G (p.Asp63Gly) SNV Benign 193297 rs375912738 GRCh37: 19:50832152-50832152
GRCh38: 19:50328895-50328895

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 13:

72
# Symbol AA change Variation ID SNP ID
1 KCNC3 p.Arg420His VAR_029530 rs104894699
2 KCNC3 p.Phe448Leu VAR_029531 rs104894700
3 KCNC3 p.Arg423His VAR_074197 rs797044872
4 KCNC3 p.Val535Met VAR_074199

Expression for Spinocerebellar Ataxia 13

Search GEO for disease gene expression data for Spinocerebellar Ataxia 13.

Pathways for Spinocerebellar Ataxia 13

Pathways related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
2 11.86 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
3 11.71 SPTBN2 KCND3 KCNC3 FGF14
4
Show member pathways
11.34 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2

GO Terms for Spinocerebellar Ataxia 13

Cellular components related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.19 SNX14 OPN1LW KCND3 KCNC4 KCNC3 KCNC2
2 synapse GO:0045202 9.89 KCNC4 KCNC3 KCNC2 KCNC1 KCNA1
3 cell projection GO:0042995 9.86 TTBK2 SNX14 KCND3 KCNC3 KCNC2 KCNC1
4 axon GO:0030424 9.85 KCNC4 KCNC3 KCNC2 KCNC1 KCNA1
5 dendrite GO:0030425 9.85 SNX14 KCND3 KCNC3 KCNC2 KCNB2 KCNA1
6 neuronal cell body GO:0043025 9.83 SPTBN2 KCND3 KCNC2 KCNB2 KCNA1
7 apical plasma membrane GO:0016324 9.78 SPTBN2 KCNC2 KCNA1 HAX1
8 perikaryon GO:0043204 9.71 KCNC3 KCNC2 KCNB2 KCNA1
9 postsynaptic membrane GO:0045211 9.7 KCND3 KCNC3 KCNC2
10 cell cortex GO:0005938 9.69 SPTBN2 KCNC3 HAX1
11 presynaptic membrane GO:0042734 9.62 KCNC3 KCNC2 KCNC1 KCNA1
12 dendrite membrane GO:0032590 9.46 KCNC4 KCNC3 KCNC2 KCNC1
13 neuronal cell body membrane GO:0032809 9.35 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
14 voltage-gated potassium channel complex GO:0008076 9.17 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2

Biological processes related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
2 transmembrane transport GO:0055085 9.87 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
3 regulation of ion transmembrane transport GO:0034765 9.8 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
4 ion transmembrane transport GO:0034220 9.76 KCNC4 KCNC3 KCNC2 KCNC1
5 potassium ion transport GO:0006813 9.7 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
6 potassium ion transmembrane transport GO:0071805 9.5 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
7 regulation of postsynaptic membrane potential GO:0060078 9.49 KCNA1 FGF14
8 protein tetramerization GO:0051262 9.48 KCNC3 KCNC1
9 positive regulation of voltage-gated potassium channel activity GO:1903818 9.43 KCNC2 KCNA1
10 regulation of presynaptic membrane potential GO:0099505 9.4 KCNC2 KCNA1
11 protein homooligomerization GO:0051260 9.17 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2

Molecular functions related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.87 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
2 voltage-gated ion channel activity GO:0005244 9.8 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
3 delayed rectifier potassium channel activity GO:0005251 9.63 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2 KCNA1
4 potassium channel activity GO:0005267 9.5 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2
5 voltage-gated ion channel activity involved in regulation of presynaptic membrane potential GO:0099508 9.37 KCNC2 KCNA1
6 voltage-gated potassium channel activity GO:0005249 9.17 KCND3 KCNC4 KCNC3 KCNC2 KCNC1 KCNB2

Sources for Spinocerebellar Ataxia 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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