MCID: SPN311
MIFTS: 44

Spinocerebellar Ataxia 13

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

Aliases & Classifications for Spinocerebellar Ataxia 13

MalaCards integrated aliases for Spinocerebellar Ataxia 13:

Name: Spinocerebellar Ataxia 13 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 13 12 24 53 59 6 15
Sca13 57 24 53 59 75
Cerebellar Ataxia, Autosomal Dominant with Mental Retardation 53
Autosomal Dominant Cerebellar Ataxia with Mental Retardation 53
Ataxia, Spinocerebellar, Type 13 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 13
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 13:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Kcnc3 pathogenic variants appear to be fully penetrant in the families described...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 13

NIH Rare Diseases : 53 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 spinocerebellar ataxia, autosomal recessive 13 and autosomal dominant cerebellar ataxia, and has symptoms including abnormal pyramidal signs and gait ataxia. 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 eye, spinal cord and cerebellum, and related phenotypes are nystagmus and seizures

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 605259
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, 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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 13 11.1
2 autosomal dominant cerebellar ataxia 10.3
3 aceruloplasminemia 9.9
4 ataxia-oculomotor apraxia 3 9.9
5 sleep disorder 9.9

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



Diseases related to Spinocerebellar Ataxia 13

Symptoms & Phenotypes for Spinocerebellar Ataxia 13

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
progressive cerebellar ataxia
cerebellar atrophy
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

Human phenotypes related to Spinocerebellar Ataxia 13:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
3 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
4 hyperreflexia 59 32 Frequent (79-30%) HP:0001347
5 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 abnormal facial shape 59 32 very rare (1%) Very rare (<4-1%) HP:0001999
9 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
10 short stature 59 32 very rare (1%) Very rare (<4-1%) HP:0004322
11 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
12 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
13 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
14 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
15 clumsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002312
16 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
17 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
18 bradykinesia 59 32 very rare (1%) Very rare (<4-1%) HP:0002067
19 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
20 torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000473
21 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
22 optic disc pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000543
23 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
24 jerky ocular pursuit movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0008003
25 impaired visuospatial constructive cognition 59 32 frequent (33%) Frequent (79-30%) HP:0010794
26 postural instability 59 32 occasional (7.5%) Occasional (29-5%) HP:0002172
27 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
28 urinary urgency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000012
29 impaired distal vibration sensation 59 32 frequent (33%) Frequent (79-30%) HP:0006886
30 titubation 59 32 frequent (33%) Frequent (79-30%) HP:0030187
31 difficulty running 59 32 frequent (33%) Frequent (79-30%) HP:0009046
32 upgaze palsy 59 32 very rare (1%) Very rare (<4-1%) HP:0025331
33 intellectual disability 32 HP:0001249
34 muscular hypotonia 32 HP:0001252
35 abnormal pyramidal signs 32 HP:0007256
36 progressive cerebellar ataxia 32 HP:0002073
37 limb dysmetria 32 HP:0002406
38 morphological abnormality of the pyramidal tract 32 HP:0002062

UMLS symptoms related to Spinocerebellar Ataxia 13:


abnormal pyramidal signs, gait ataxia

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.8 KCNC2 KCNC3 KCNC4

Drugs & Therapeutics for Spinocerebellar Ataxia 13

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 13 29 KCNC3

Anatomical Context for Spinocerebellar Ataxia 13

MalaCards organs/tissues related to Spinocerebellar Ataxia 13:

41
Eye, Spinal Cord, Cerebellum, Brain, Testes, Cortex

Publications for Spinocerebellar Ataxia 13

Articles related to Spinocerebellar Ataxia 13:

# Title Authors Year
1
Spectrum of Sleep Disorders in a Patient with Spinocerebellar Ataxia 13. ( 25406272 )
2014
2
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. ( 25152487 )
2014
3
Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. ( 24116147 )
2013
4
Spinocerebellar ataxia 13 and 25. ( 21827913 )
2012
5
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). ( 21479265 )
2011
6
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. ( 10820125 )
2000

Variations for Spinocerebellar Ataxia 13

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

75
# 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

ClinVar genetic disease variations for Spinocerebellar Ataxia 13:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNC3 NM_004977.2(KCNC3): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs104894699 GRCh37 Chromosome 19, 50826951: 50826951
2 KCNC3 NM_004977.2(KCNC3): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs104894699 GRCh38 Chromosome 19, 50323694: 50323694
3 KCNC3 NM_004977.2(KCNC3): c.1344C> A (p.Phe448Leu) single nucleotide variant Pathogenic rs104894700 GRCh37 Chromosome 19, 50826866: 50826866
4 KCNC3 NM_004977.2(KCNC3): c.1344C> A (p.Phe448Leu) single nucleotide variant Pathogenic rs104894700 GRCh38 Chromosome 19, 50323609: 50323609
5 KCNC3 NM_004977.2(KCNC3): c.188A> G (p.Asp63Gly) single nucleotide variant Benign rs375912738 GRCh37 Chromosome 19, 50832152: 50832152
6 KCNC3 NM_004977.2(KCNC3): c.188A> G (p.Asp63Gly) single nucleotide variant Benign rs375912738 GRCh38 Chromosome 19, 50328895: 50328895
7 KCNC3 NM_004977.2(KCNC3): c.1268G> A (p.Arg423His) single nucleotide variant Pathogenic rs797044872 GRCh37 Chromosome 19, 50826942: 50826942
8 KCNC3 NM_004977.2(KCNC3): c.1268G> A (p.Arg423His) single nucleotide variant Pathogenic rs797044872 GRCh38 Chromosome 19, 50323685: 50323685
9 KCNC3 NM_004977.2(KCNC3): c.1283C> T (p.Thr428Ile) single nucleotide variant Pathogenic rs879253883 GRCh37 Chromosome 19, 50826927: 50826927
10 KCNC3 NM_004977.2(KCNC3): c.1283C> T (p.Thr428Ile) single nucleotide variant Pathogenic rs879253883 GRCh38 Chromosome 19, 50323670: 50323670
11 KCNC3 NM_004977.2(KCNC3): c.1641G> A (p.Ser547=) single nucleotide variant Benign/Likely benign rs2301357 GRCh37 Chromosome 19, 50826569: 50826569
12 KCNC3 NM_004977.2(KCNC3): c.1641G> A (p.Ser547=) single nucleotide variant Benign/Likely benign rs2301357 GRCh38 Chromosome 19, 50323312: 50323312
13 KCNC3 NM_004977.2(KCNC3): c.1929C> T (p.Gly643=) single nucleotide variant Benign rs111744086 GRCh37 Chromosome 19, 50826281: 50826281
14 KCNC3 NM_004977.2(KCNC3): c.1929C> T (p.Gly643=) single nucleotide variant Benign rs111744086 GRCh38 Chromosome 19, 50323024: 50323024
15 KCNC3 NM_004977.2(KCNC3): c.315G> C (p.Thr105=) single nucleotide variant Benign rs368049323 GRCh37 Chromosome 19, 50832025: 50832025
16 KCNC3 NM_004977.2(KCNC3): c.315G> C (p.Thr105=) single nucleotide variant Benign rs368049323 GRCh38 Chromosome 19, 50328768: 50328768
17 KCNC3 NM_004977.2(KCNC3): c.2170+14C> T single nucleotide variant Benign/Likely benign rs189018316 GRCh37 Chromosome 19, 50823836: 50823836
18 KCNC3 NM_004977.2(KCNC3): c.2170+14C> T single nucleotide variant Benign/Likely benign rs189018316 GRCh38 Chromosome 19, 50320579: 50320579
19 KCNC3 NM_004977.2(KCNC3): c.1884G> A (p.Ala628=) single nucleotide variant Likely benign rs552133569 GRCh37 Chromosome 19, 50826326: 50826326
20 KCNC3 NM_004977.2(KCNC3): c.1884G> A (p.Ala628=) single nucleotide variant Likely benign rs552133569 GRCh38 Chromosome 19, 50323069: 50323069
21 KCNC3 NM_004977.2(KCNC3): c.11_12delCA (p.Ser4Cysfs) deletion Pathogenic GRCh37 Chromosome 19, 50832328: 50832329
22 KCNC3 NM_004977.2(KCNC3): c.11_12delCA (p.Ser4Cysfs) deletion Pathogenic GRCh38 Chromosome 19, 50329071: 50329072

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
12.31 KCNC1 KCNC2 KCNC3 KCNC4
2 11.61 KCNC1 KCNC2 KCNC3 KCNC4
3
Show member pathways
11.09 KCNC1 KCNC2 KCNC3 KCNC4

GO Terms for Spinocerebellar Ataxia 13

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.62 KCNC1 KCNC2 KCNC3 KCNC4
2 dendrite GO:0030425 9.58 KCNC1 KCNC2 KCNC3
3 axon GO:0030424 9.56 KCNC1 KCNC2 KCNC3 KCNC4
4 cell cortex GO:0005938 9.48 HAX1 KCNC3
5 perikaryon GO:0043204 9.46 KCNC2 KCNC3
6 voltage-gated potassium channel complex GO:0008076 9.46 KCNC1 KCNC2 KCNC3 KCNC4
7 presynaptic membrane GO:0042734 9.43 KCNC2 KCNC3
8 axolemma GO:0030673 9.37 KCNC1 KCNC2
9 dendrite membrane GO:0032590 9.26 KCNC1 KCNC2 KCNC3 KCNC4
10 neuronal cell body membrane GO:0032809 8.92 KCNC1 KCNC2 KCNC3 KCNC4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.81 KCNC1 KCNC2 KCNC3 KCNC4
2 transmembrane transport GO:0055085 9.8 KCNC1 KCNC2 KCNC3 KCNC4
3 protein homooligomerization GO:0051260 9.56 KCNC1 KCNC2 KCNC3 KCNC4
4 response to toxic substance GO:0009636 9.54 KCNC1 KCNC2
5 protein tetramerization GO:0051262 9.52 KCNC1 KCNC3
6 positive regulation of potassium ion transmembrane transport GO:1901381 9.48 KCNC1 KCNC2
7 response to amine GO:0014075 9.46 KCNC1 KCNC2
8 regulation of ion transmembrane transport GO:0034765 9.46 KCNC1 KCNC2 KCNC3 KCNC4
9 positive regulation of voltage-gated potassium channel activity GO:1903818 9.43 KCNC1 KCNC2
10 response to light intensity GO:0009642 9.4 KCNC1 KCNC2
11 globus pallidus development GO:0021759 9.37 KCNC1 KCNC2
12 response to nerve growth factor GO:1990089 9.32 KCNC1 KCNC2
13 potassium ion transport GO:0006813 9.26 KCNC1 KCNC2 KCNC3 KCNC4
14 potassium ion transmembrane transport GO:0071805 8.92 KCNC1 KCNC2 KCNC3 KCNC4

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.56 KCNC1 KCNC2 KCNC3 KCNC4
2 potassium channel activity GO:0005267 9.46 KCNC1 KCNC2 KCNC3 KCNC4
3 ion channel binding GO:0044325 9.32 KCNC1 KCNC2
4 voltage-gated potassium channel activity GO:0005249 9.26 KCNC1 KCNC2 KCNC3 KCNC4
5 delayed rectifier potassium channel activity GO:0005251 8.92 KCNC1 KCNC2 KCNC3 KCNC4

Sources for Spinocerebellar Ataxia 13

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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