SCA14
MCID: SPN312
MIFTS: 46

Spinocerebellar Ataxia 14 (SCA14) malady

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

Aliases & Classifications for Spinocerebellar Ataxia 14

Aliases & Descriptions for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 54 50 66 13 69
Spinocerebellar Ataxia Type 14 12 23 50 56 29 14
Sca14 23 50 56 66 52

Characteristics:

Orphanet epidemiological data:

56
spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

GeneReviews:

23
spinocerebellar ataxia 14:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression incomplete penetrance


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: 56  
Rare neurological diseases


External Ids:

OMIM 54 605361
Disease Ontology 12 DOID:0050964
Orphanet 56 ORPHA98763
MESH via Orphanet 43 C537196
UMLS via Orphanet 70 C1854369
ICD10 via Orphanet 34 G11.2
MedGen 40 C1854369
MeSH 42 D020754

Summaries for Spinocerebellar Ataxia 14

UniProtKB/Swiss-Prot : 66 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 spinocerebellar ataxia type 14, is related to spinocerebellar ataxia, autosomal recessive 14 and spinocerebellar ataxia type14, and has symptoms including gait ataxia, nystagmus and depression. 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. The drugs Dexamethasone and Antiemetics have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are behavior/neurological and cardiovascular system

Description from OMIM: 605361
GeneReviews: NBK1399

Related Diseases for Spinocerebellar Ataxia 14

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5
Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive, 24 Spinocerebellar Ataxia, Autosomal Recessive, 22

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

id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 14 11.0
2 spinocerebellar ataxia type14 11.0
3 ataxia 10.1
4 nonprogressive cerebellar atxia with mental retardation 10.0 GJA1 HSPA4
5 senile atrophy of choroid 9.9 CASP3 HSPA4
6 cervix disease 9.8 CASP3 HSPA4 HSPA5
7 pontocerebellar hypoplasia type 2c 8.2 APTX ATG5 CASP3 DDIT3 EEA1 GJA1

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 by clinical synopsis from OMIM:

605361

Clinical features from OMIM:

605361

Human phenotypes related to Spinocerebellar Ataxia 14:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 gait ataxia 32 HP:0002066
2 nystagmus 32 HP:0000639
3 depression 32 HP:0000716
4 dysarthria 32 HP:0001260
5 hyperreflexia 32 HP:0001347
6 dysphagia 32 HP:0002015
7 attention deficit hyperactivity disorder 32 HP:0007018
8 dysmetria 32 HP:0001310
9 memory impairment 32 HP:0002354
10 mental deterioration 32 HP:0001268
11 cerebellar atrophy 32 HP:0001272
12 progressive cerebellar ataxia 32 HP:0002073
13 focal dystonia 32 HP:0004373
14 impaired vibration sensation at ankles 32 HP:0006938
15 facial myokymia 32 HP:0000317

UMLS symptoms related to Spinocerebellar Ataxia 14:


memory loss, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 14:

44
id 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 DDIT3 GJA1 GJA8 HSPA5 SGCE ATG5
3 cellular MP:0005384 9.56 APTX ATG5 CASP3 DDIT3 GJA1 HSPA4
4 nervous system MP:0003631 9.28 ATG5 CASP3 DDIT3 GJA1 HSPA4 HSPA5

Drugs & Therapeutics for Spinocerebellar Ataxia 14

Drugs for Spinocerebellar Ataxia 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
2 Antiemetics Phase 3,Early Phase 1
3 Anti-Inflammatory Agents Phase 3,Early Phase 1
4 Antineoplastic Agents, Hormonal Phase 3,Early Phase 1
5 Autonomic Agents Phase 3,Early Phase 1
6 BB 1101 Phase 3
7 Dexamethasone 21-phosphate Phase 3
8 Dexamethasone acetate Phase 3 1177-87-3
9 Gastrointestinal Agents Phase 3,Early Phase 1
10 glucocorticoids Phase 3,Early Phase 1
11 HIV Protease Inhibitors Phase 3
12 Hormone Antagonists Phase 3,Early Phase 1
13 Hormones Phase 3,Early Phase 1
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Early Phase 1
15 Peripheral Nervous System Agents Phase 3,Early Phase 1
16 Pharmaceutical Solutions Phase 3
17
protease inhibitors Phase 3
18
Guaifenesin Approved, Vet_approved Phase 2 93-14-1 3516
19
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
20 Anti-Infective Agents Phase 2
21 Antiviral Agents Phase 2
22 Interferon-gamma Phase 2
23 interferons Phase 2
24 Anticoagulants Phase 2
25 Antihypertensive Agents Phase 2
26 Antioxidants Phase 2
27 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
28 Micronutrients Phase 2
29 Protective Agents Phase 2,Early Phase 1
30 Tocopherols Phase 2
31 Tocopherylquinone Phase 2
32 Tocotrienols Phase 2
33 Trace Elements Phase 2
34 Vitamins Phase 2
35 Tocopherol Nutraceutical Phase 2
36 Tocotrienol Nutraceutical Phase 2
37
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
38
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
39 Methylprednisolone acetate Early Phase 1
40 Methylprednisolone Hemisuccinate Early Phase 1
41 Neuroprotective Agents Early Phase 1
42 Prednisolone acetate Early Phase 1
43 Prednisolone hemisuccinate Early Phase 1
44 Prednisolone phosphate Early Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
2 A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients Completed NCT02035020 Phase 2
3 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2
4 Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia Completed NCT00824512 Phase 2
5 Transcranial Magnetic Stimulation in Spino-Cerebellar Ataxia Completed NCT01975909
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Methylprednisolone Treatment of Friedreich Ataxia Recruiting NCT02424435 Early Phase 1

Search NIH Clinical Center for Spinocerebellar Ataxia 14

Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 14 29

Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

39
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

id Title Authors Year
1
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. ( 24937631 )
2014
2
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ( 17149711 )
2007
3
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ( 15618281 )
2005
4
The clinical and genetic spectrum of spinocerebellar ataxia 14. ( 15824357 )
2005

Variations for Spinocerebellar Ataxia 14

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

66
id 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)
id 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.2075T> G (p.Val692Gly) single nucleotide variant Pathogenic rs78437096 GRCh37 Chromosome 19, 54410130: 54410130
16 PRKCG NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser) single nucleotide variant Pathogenic rs386134160 GRCh37 Chromosome 19, 54387441: 54387441
17 PRKCG NM_002739.4(PRKCG): c.296_301delACAAAC (p.His101_Lys102del) deletion Pathogenic rs386134161 GRCh37 Chromosome 19, 54392902: 54392907
18 PRKCG NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr) single nucleotide variant Pathogenic rs386134162 GRCh37 Chromosome 19, 54392947: 54392947
19 PRKCG NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe) single nucleotide variant Pathogenic rs386134163 GRCh37 Chromosome 19, 54392962: 54392962
20 PRKCG NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs386134164 GRCh37 Chromosome 19, 54392973: 54392973
21 PRKCG NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu) single nucleotide variant Pathogenic rs386134165 GRCh37 Chromosome 19, 54392974: 54392974
22 PRKCG NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg) single nucleotide variant Pathogenic rs386134166 GRCh37 Chromosome 19, 54392997: 54392997
23 PRKCG NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr) single nucleotide variant Pathogenic rs386134167 GRCh37 Chromosome 19, 54392998: 54392998
24 PRKCG NM_002739.4(PRKCG): c.413T> A (p.Val138Glu) single nucleotide variant Pathogenic rs386134168 GRCh37 Chromosome 19, 54393155: 54393155
25 PRKCG NM_002739.4(PRKCG): c.449_450delGCinsTT (p.Cys150Phe) indel Pathogenic rs386134170 GRCh37 Chromosome 19, 54393191: 54393192
26 PRKCG NM_002739.4(PRKCG): c.417C> A (p.His139Gln) single nucleotide variant Pathogenic rs386134169 GRCh37 Chromosome 19, 54393159: 54393159
27 PRKCG NM_002739.4(PRKCG): c.76A> G (p.Arg26Gly) single nucleotide variant Pathogenic rs386134157 GRCh37 Chromosome 19, 54385824: 54385824
28 PRKCG NM_002739.4(PRKCG): c.154T> A (p.Cys52Ser) single nucleotide variant Likely pathogenic rs797045900 GRCh37 Chromosome 19, 54385902: 54385902

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:

id Super pathways Score Top Affiliating Genes
1 11.55 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:

id 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:

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

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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