MCID: SPN312
MIFTS: 43

Spinocerebellar Ataxia 14

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

Aliases & Classifications for Spinocerebellar Ataxia 14

MalaCards integrated aliases for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 53 49 71 28 13 69
Sca14 53 23 49 55 71 51
Spinocerebellar Ataxia Type 14 12 23 49 55 14

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
slow progression
mean age of onset 31 years (range 5-60)


HPO:

31
spinocerebellar ataxia 14:
Onset and clinical course incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Too few families have been studied to specify the penetrance or to determine if decreased penetrance is related to specific pathogenic variants. however, clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least two families [yabe et al 2003, chen et al 2005]. in general, penetrance is high when late-onset cases are included [klebe et al 2005]...

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 605361
Disease Ontology 12 DOID:0050964
Orphanet 55 ORPHA98763
MESH via Orphanet 42 C537196
UMLS via Orphanet 70 C1854369
ICD10 via Orphanet 33 G11.2
MedGen 39 C1854369
MeSH 41 D020754
UMLS 69 C1854369

Summaries for Spinocerebellar Ataxia 14

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 14: 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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).

MalaCards based summary : Spinocerebellar Ataxia 14, also known as sca14, is related to spinocerebellar ataxia, autosomal recessive 14 and dystonia 11, myoclonic, and has symptoms including gait ataxia, nystagmus and dysarthria. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are MAPK signaling pathway and Development_Glucocorticoid receptor signaling. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are behavior/neurological and cardiovascular system

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Spinocerebellar ataxia.

Description from OMIM: 605361
GeneReviews: NBK1399

Related Diseases for Spinocerebellar Ataxia 14

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 Type 16 Spinocerebellar Ataxia Type 19/22
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 14 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 14 11.1
2 dystonia 11, myoclonic 10.9
3 ataxia and polyneuropathy, adult-onset 10.2
4 autosomal dominant cerebellar ataxia 10.2
5 internal hemorrhoid 9.9 CASP3 HSPA4
6 hypomyelinating leukoencephalopathy 9.8 GJA1 HSPA4
7 transient cerebral ischemia 9.6 CASP3 HSPA4 HSPA5
8 ischemia 9.3 CASP3 GJA1 HSPA4

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:



Diseases related to Spinocerebellar Ataxia 14

Symptoms & Phenotypes for Spinocerebellar Ataxia 14

Symptoms via clinical synopsis from OMIM:

53
NeurologicBehavioralPsychiatricManifestations:
memory loss
depression
cognitive decline
attention deficits

HeadAndNeckEyes:
nystagmus
eye movement abnormalities
saccadic intrusions

NeurologicPeripheralNervousSystem:
decreased vibration sense at ankles

NeurologicCentralNervousSystem:
gait ataxia
dysarthria
hyperreflexia
dysphagia
dysmetria
more
HeadAndNeckFace:
facial myokymia


Clinical features from OMIM:

605361

Human phenotypes related to Spinocerebellar Ataxia 14:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 gait ataxia 31 HP:0002066
2 nystagmus 31 HP:0000639
3 dysarthria 31 HP:0001260
4 hyperreflexia 31 HP:0001347
5 dysphagia 31 HP:0002015
6 attention deficit hyperactivity disorder 31 HP:0007018
7 dysmetria 31 HP:0001310
8 memory impairment 31 HP:0002354
9 mental deterioration 31 HP:0001268
10 cerebellar atrophy 31 HP:0001272
11 progressive cerebellar ataxia 31 HP:0002073
12 focal dystonia 31 HP:0004373
13 facial myokymia 31 HP:0000317
14 depressivity 31 HP:0000716
15 impaired vibration sensation at ankles 31 HP:0006938

UMLS symptoms related to Spinocerebellar Ataxia 14:


gait ataxia, memory loss

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 14:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 ATG5 CASP3 DDIT3 GJA1 HSPA4 PRKCG
2 cardiovascular system MP:0005385 9.7 ATG5 CASP3 DDIT3 GJA1 GJA8 HSPA5
3 cellular MP:0005384 9.56 DDIT3 GJA1 HSPA4 HSPA5 SGCE APTX
4 nervous system MP:0003631 9.28 ATG5 CASP3 DDIT3 GJA1 HSPA4 HSPA5

Drugs & Therapeutics for Spinocerebellar Ataxia 14

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 14

Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 14 28 PRKCG

Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

38
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

# Title Authors Year
1
Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. ( 28738819 )
2017
2
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. ( 24937631 )
2014
3
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ( 17149711 )
2007
4
The clinical and genetic spectrum of spinocerebellar ataxia 14. ( 15824357 )
2005
5
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ( 15618281 )
2005

Variations for Spinocerebellar Ataxia 14

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

71
# Symbol AA change Variation ID SNP ID
1 PRKCG p.His101Tyr VAR_017060 rs121918511
2 PRKCG p.Ser119Pro VAR_017061 rs121918512
3 PRKCG p.Gly128Asp VAR_017062 rs121918513

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKCG NM_002739.4(PRKCG): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs121918511 GRCh37 Chromosome 19, 54392907: 54392907
2 PRKCG NM_002739.4(PRKCG): c.355T> C (p.Ser119Pro) single nucleotide variant Pathogenic rs121918512 GRCh37 Chromosome 19, 54392961: 54392961
3 PRKCG NM_002739.4(PRKCG): c.383G> A (p.Gly128Asp) single nucleotide variant Pathogenic rs121918513 GRCh37 Chromosome 19, 54392989: 54392989
4 PRKCG NM_002739.4(PRKCG): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic rs121918514 GRCh37 Chromosome 19, 54392959: 54392959
5 PRKCG NM_002739.4(PRKCG): c.380A> G (p.Gln127Arg) single nucleotide variant Pathogenic rs121918515 GRCh37 Chromosome 19, 54392986: 54392986
6 PRKCG NM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu) single nucleotide variant Pathogenic rs121918516 GRCh37 Chromosome 19, 54409982: 54409982
7 PRKCG NM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly) single nucleotide variant Pathogenic rs121918517 GRCh37 Chromosome 19, 54401354: 54401354
8 PRKCG NM_002739.4(PRKCG): c.303C> G (p.His101Gln) single nucleotide variant Pathogenic rs121918518 GRCh37 Chromosome 19, 54392909: 54392909
9 PRKCG NM_002739.4(PRKCG): c.2091_*98del102 deletion Pathogenic GRCh37 Chromosome 19, 54410146: 54410247
10 PRKCG NM_002739.3(PRKCG): c.530_919del deletion Pathogenic
11 PRKCG NM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr) single nucleotide variant Pathogenic rs387906679 GRCh37 Chromosome 19, 54403866: 54403866
12 PRKCG NM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser) single nucleotide variant Pathogenic rs386134171 GRCh37 Chromosome 19, 54401351: 54401351
13 PRKCG NM_002739.4(PRKCG): c.122G> C (p.Arg41Pro) single nucleotide variant Pathogenic rs386134158 GRCh37 Chromosome 19, 54385870: 54385870
14 PRKCG NM_002739.4(PRKCG): c.188G> T (p.Gly63Val) single nucleotide variant Pathogenic rs386134159 GRCh37 Chromosome 19, 54386434: 54386434
15 PRKCG NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser) single nucleotide variant Pathogenic rs386134160 GRCh37 Chromosome 19, 54387441: 54387441
16 PRKCG NM_002739.4(PRKCG): c.296_301delACAAAC (p.His101_Lys102del) deletion Pathogenic rs386134161 GRCh37 Chromosome 19, 54392902: 54392907
17 PRKCG NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr) single nucleotide variant Pathogenic rs386134162 GRCh37 Chromosome 19, 54392947: 54392947
18 PRKCG NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe) single nucleotide variant Pathogenic rs386134163 GRCh37 Chromosome 19, 54392962: 54392962
19 PRKCG NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs386134164 GRCh37 Chromosome 19, 54392973: 54392973
20 PRKCG NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu) single nucleotide variant Pathogenic rs386134165 GRCh37 Chromosome 19, 54392974: 54392974
21 PRKCG NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg) single nucleotide variant Pathogenic rs386134166 GRCh37 Chromosome 19, 54392997: 54392997
22 PRKCG NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr) single nucleotide variant Pathogenic rs386134167 GRCh37 Chromosome 19, 54392998: 54392998
23 PRKCG NM_002739.4(PRKCG): c.413T> A (p.Val138Glu) single nucleotide variant Pathogenic rs386134168 GRCh37 Chromosome 19, 54393155: 54393155
24 PRKCG NM_002739.4(PRKCG): c.449_450delGCinsTT (p.Cys150Phe) indel Pathogenic rs386134170 GRCh37 Chromosome 19, 54393191: 54393192
25 PRKCG NM_002739.4(PRKCG): c.417C> A (p.His139Gln) single nucleotide variant Pathogenic rs386134169 GRCh37 Chromosome 19, 54393159: 54393159
26 PRKCG NM_002739.4(PRKCG): c.76A> G (p.Arg26Gly) single nucleotide variant Pathogenic rs386134157 GRCh37 Chromosome 19, 54385824: 54385824
27 PRKCG NM_002739.4(PRKCG): c.154T> A (p.Cys52Ser) single nucleotide variant Likely pathogenic rs797045900 GRCh38 Chromosome 19, 53882648: 53882648
28 PRKCG NM_002739.4(PRKCG): c.197G> A (p.Cys66Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 54386443: 54386443

Expression for Spinocerebellar Ataxia 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia 14.

Pathways for Spinocerebellar Ataxia 14

Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.59 CASP3 DDIT3 HSPA5 PRKCG
2 10.87 HSPA4 HSPA5
3 10.7 HSPA4 HSPA5
4 10.42 DDIT3 HSPA5

GO Terms for Spinocerebellar Ataxia 14

Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.36 APTX ATG5 CASP3 DDIT3 EEA1 GJA1
2 gap junction GO:0005921 9.16 GJA1 GJA8
3 connexin complex GO:0005922 8.96 GJA1 GJA8

Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron apoptotic process GO:0051402 9.37 CASP3 HSPA5
2 lens development in camera-type eye GO:0002088 9.32 GJA1 GJA8
3 PERK-mediated unfolded protein response GO:0036499 9.26 DDIT3 HSPA5
4 ER overload response GO:0006983 9.16 DDIT3 HSPA5
5 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 8.96 DDIT3 HSPA5
6 ATF6-mediated unfolded protein response GO:0036500 8.62 DDIT3 HSPA5

Molecular functions related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJA1 GJA8

Sources for Spinocerebellar Ataxia 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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