SCA14
MCID: SPN075
MIFTS: 42

Spinocerebellar Ataxia Type 14 (SCA14) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Metabolic diseases, Skin diseases, Ear diseases categories

Summaries for Spinocerebellar Ataxia Type 14

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MalaCards based summary: Spinocerebellar Ataxia Type 14, also known as spinocerebellar ataxia 14, is related to spinocerebellar ataxia and ataxia, and has symptoms including autosomal dominant inheritance, facial myokymia and nystagmus. An important gene associated with Spinocerebellar Ataxia Type 14 is PRKCG (protein kinase C, gamma), and among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Nanog in Mammalian ESC Pluripotency. The compounds gf 109203x and nmda have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and behavior/neurological.

Description from OMIM:46 605361

GeneReviews summary for sca14

Aliases & Classifications for Spinocerebellar Ataxia Type 14

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Sources:
20GeneReviews, 42NIH Rare Diseases, 23GTR, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Spinocerebellar Ataxia Type 14, Aliases & Descriptions:

Name: Spinocerebellar Ataxia Type 14 20 42 48
Spinocerebellar Ataxia 14 42 23 46 61
 
Sca14 20 42 44 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
sca14:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


External Ids:

OMIM46 605361
MESH via Orphanet35 C537196
ICD10 via Orphanet27 G11
UMLS via Orphanet62 C1854369

Related Diseases for Spinocerebellar Ataxia Type 14

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Diseases in the Spinocerebellar Ataxia Autosomal Recessive 1 family:

Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 8 Spinocerebellar Ataxia Type 10
Spinocerebellar Ataxia Type 11 Spinocerebellar Ataxia Type 12
Spinocerebellar Ataxia Type 13 spinocerebellar ataxia type 14
Spinocerebellar Ataxia Type 15 Spinocerebellar Ataxia Type 17
Spinocerebellar Ataxia Type 20 Spinocerebellar Ataxia Type 28
Spinocerebellar Ataxia Type 36 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia Autosomal Recessive 3 Spinocerebellar Ataxia Autosomal Recessive 4
Spinocerebellar Ataxia Autosomal Recessive 5 Spinocerebellar Ataxia Autosomal Recessive 6
Spinocerebellar Ataxia Autosomal Recessive 7 Spinocerebellar Ataxia Autosomal Recessive 8
Spinocerebellar Ataxia, Autosomal Recessive, 9 Spinocerebellar Ataxia, Autosomal Recessive, 10
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 35

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

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia11.0
2ataxia11.0
3cerebellar ataxia10.4
4neuronitis10.3
5dystonia10.3
6myoclonus-dystonia10.3
7myoclonus10.3
8tremor10.3
9spinocerebellar ataxia, autosomal recessive 1410.3
10epilepsy syndrome9.9SGCE, HSPA4

Graphical network of diseases related to Spinocerebellar Ataxia Type 14:



Diseases related to spinocerebellar ataxia type 14

Symptoms for Spinocerebellar Ataxia Type 14

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Symptoms by clinical synopsis from OMIM:

605361

Clinical features from OMIM:

605361

HPO human phenotypes related to Spinocerebellar Ataxia Type 14:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 facial myokymia HP:0000317
3 nystagmus HP:0000639
4 depression HP:0000716
5 dysarthria HP:0001260
6 mental deterioration HP:0001268
7 cerebellar atrophy HP:0001272
8 dysmetria HP:0001310
9 hyperreflexia HP:0001347
10 dysphagia HP:0002015
11 gait ataxia HP:0002066
12 progressive cerebellar ataxia HP:0002073
13 memory impairment HP:0002354
14 slow progression HP:0003677
15 incomplete penetrance HP:0003829
16 focal dystonia HP:0004373
17 impaired vibration sensation at ankles HP:0006938
18 attention deficit hyperactivity disorder HP:0007018

Drugs & Therapeutics for Spinocerebellar Ataxia Type 14

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 14

Search NIH Clinical Center for Spinocerebellar Ataxia Type 14

Genetic Tests for Spinocerebellar Ataxia Type 14

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Genetic tests related to Spinocerebellar Ataxia Type 14:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1423

Anatomical Context for Spinocerebellar Ataxia Type 14

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Animal Models for Spinocerebellar Ataxia Type 14 or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 14:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5PRKCG, SGCE, HSPA4
2MP:00053868.2PRKCG, SGCE, HSPA4

Publications for Spinocerebellar Ataxia Type 14

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Articles related to Spinocerebellar Ataxia Type 14:

(show all 24)
idTitleAuthorsYear
1
Clinical and neurophysiological profile of four german families with spinocerebellar ataxia type 14. (24030789)
2014
2
Deregulation of the actin cytoskeleton and macropinocytosis in response to phorbol ester by the mutant protein kinase C gamma that causes spinocerebellar ataxia type 14. (24744737)
2014
3
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. (24289098)
2013
4
A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14. (23604456)
2013
5
Mutant I^PKC that causes spinocerebellar ataxia type 14 upregulates Hsp70, which protects cells from the mutant's cytotoxicity. (24021284)
2013
6
Spinocerebellar ataxia type 14. (21827914)
2012
7
Mutant PKCI^ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo. (21976518)
2011
8
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)
2010
9
Congo red, an amyloid-inhibiting compound, alleviates various types of cellular dysfunction triggered by mutant protein kinase cI^ that causes spinocerebellar ataxia type 14 (SCA14) by inhibiting oligomerization and aggregation. (20938103)
2010
10
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. (20398063)
2010
11
Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells. (20705605)
2010
12
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. (19041943)
2009
13
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. (18577575)
2008
14
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. (18499672)
2008
15
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. (17562946)
2007
16
Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress. (18005063)
2007
17
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. (16763984)
2006
18
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. (16189624)
2005
19
Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. (15964845)
2005
20
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. (16291902)
2005
21
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. (16193476)
2005
22
Spinocerebellar ataxia type 14: opening a new door in dominant ataxia research? (15824330)
2005
23
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. (15313841)
2004
24
Spinocerebellar Ataxia Type 14 (20301573)
1993

Variations for Spinocerebellar Ataxia Type 14

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

63
id Symbol AA change Variation ID SNP ID
1PRKCGp.His101TyrVAR_017060
2PRKCGp.Ser119ProVAR_017061
3PRKCGp.Gly128AspVAR_017062

Clinvar genetic disease variations for Spinocerebellar Ataxia Type 14:

7 (show all 27)
id Gene Name Type Significance SNP ID Assembly Location
1PRKCGNM_002739.3(PRKCG): c.301C> T (p.His101Tyr)single nucleotide variantPathogenicrs121918511GRCh37Chr 19, 54392907: 54392907
2PRKCGNM_002739.3(PRKCG): c.355T> C (p.Ser119Pro)single nucleotide variantPathogenicrs121918512GRCh37Chr 19, 54392961: 54392961
3PRKCGNM_002739.3(PRKCG): c.383G> A (p.Gly128Asp)single nucleotide variantPathogenicrs121918513GRCh37Chr 19, 54392989: 54392989
4PRKCGNM_002739.3(PRKCG): c.353G> A (p.Gly118Asp)single nucleotide variantPathogenicrs121918514GRCh37Chr 19, 54392959: 54392959
5PRKCGNM_002739.3(PRKCG): c.380A> G (p.Gln127Arg)single nucleotide variantPathogenicrs121918515GRCh37Chr 19, 54392986: 54392986
6PRKCGNM_002739.3(PRKCG): c.1927T> C (p.Phe643Leu)single nucleotide variantPathogenicrs121918516GRCh37Chr 19, 54409982: 54409982
7PRKCGNM_002739.3(PRKCG): c.1081A> G (p.Ser361Gly)single nucleotide variantPathogenicrs121918517GRCh37Chr 19, 54401354: 54401354
8PRKCGNM_002739.3(PRKCG): c.303C> G (p.His101Gln)single nucleotide variantPathogenicrs121918518GRCh37Chr 19, 54392909: 54392909
9PRKCGNM_002739.3: c.2091_*98del102deletionPathogenicGRCh37Chr 19, 54410146: 54410247
10PRKCGPRKCG, 1,717-BP DELdeletionPathogenic
11PRKCGNM_002739.3(PRKCG): c.1438G> T (p.Asp480Tyr)single nucleotide variantPathogenicrs387906679GRCh37Chr 19, 54403866: 54403866
12PRKCGNM_002739.3(PRKCG): c.1078G> A (p.Gly360Ser)single nucleotide variantPathogenicrs386134171GRCh37Chr 19, 54401351: 54401351
13PRKCGNM_002739.3(PRKCG): c.122G> C (p.Arg41Pro)single nucleotide variantPathogenicrs386134158GRCh37Chr 19, 54385870: 54385870
14PRKCGNM_002739.3(PRKCG): c.188G> T (p.Gly63Val)single nucleotide variantPathogenicrs386134159GRCh37Chr 19, 54386434: 54386434
15PRKCGNM_002739.3(PRKCG): c.2075T> G (p.Val692Gly)single nucleotide variantPathogenicrs78437096GRCh37Chr 19, 54410130: 54410130
16PRKCGNM_002739.3(PRKCG): c.229T> A (p.Cys77Ser)single nucleotide variantPathogenicrs386134160GRCh37Chr 19, 54387441: 54387441
17PRKCGNM_002739.3(PRKCG): c.296_301delACAAAC (p.His101_Lys102del)deletionPathogenicrs386134161GRCh37Chr 19, 54392902: 54392907
18PRKCGNM_002739.3(PRKCG): c.341G> A (p.Cys114Tyr)single nucleotide variantPathogenicrs386134162GRCh37Chr 19, 54392947: 54392947
19PRKCGNM_002739.3(PRKCG): c.356C> T (p.Ser119Phe)single nucleotide variantPathogenicrs386134163GRCh37Chr 19, 54392962: 54392962
20PRKCGNM_002739.3(PRKCG): c.367G> A (p.Gly123Arg)single nucleotide variantPathogenicrs386134164GRCh37Chr 19, 54392973: 54392973
21PRKCGNM_002739.3(PRKCG): c.368G> A (p.Gly123Glu)single nucleotide variantPathogenicrs386134165GRCh37Chr 19, 54392974: 54392974
22PRKCGNM_002739.3(PRKCG): c.391T> C (p.Cys131Arg)single nucleotide variantPathogenicrs386134166GRCh37Chr 19, 54392997: 54392997
23PRKCGNM_002739.3(PRKCG): c.392G> A (p.Cys131Tyr)single nucleotide variantPathogenicrs386134167GRCh37Chr 19, 54392998: 54392998
24PRKCGNM_002739.3(PRKCG): c.413T> A (p.Val138Glu)single nucleotide variantPathogenicrs386134168GRCh37Chr 19, 54393155: 54393155
25PRKCGNM_002739.3(PRKCG): c.449_450delGCinsTT (p.Cys150Phe)indelPathogenicrs386134170GRCh37Chr 19, 54393191: 54393192
26PRKCGNM_002739.3(PRKCG): c.417C> A (p.His139Gln)single nucleotide variantPathogenicrs386134169GRCh37Chr 19, 54393159: 54393159
27PRKCGNM_002739.3(PRKCG): c.76A> G (p.Arg26Gly)single nucleotide variantPathogenicrs386134157GRCh37Chr 19, 54385824: 54385824

Expression for genes affiliated with Spinocerebellar Ataxia Type 14

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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type 14

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

Pathways for genes affiliated with Spinocerebellar Ataxia Type 14

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Pathways related to Spinocerebellar Ataxia Type 14 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I59
9.3PRKCG, HSPA4
2
Show member pathways
9.3PRKCG, HSPA4
3
Show member pathways
9.3PRKCG, HSPA4

Compounds for genes affiliated with Spinocerebellar Ataxia Type 14

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Sources:
44Novoseek, 60Tocris Bioscience, 29IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Spinocerebellar Ataxia Type 14 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gf 109203x44 6010.4PRKCG, HSPA4
2nmda44 2910.4PRKCG, HSPA4
3dopamine44 29 25 1212.3PRKCG, HSPA4
4atp44 2910.3PRKCG, HSPA4
5glutamate449.2HSPA4, PRKCG
6adp44 29 2511.0PRKCG, HSPA4

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 14

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Products for genes affiliated with Spinocerebellar Ataxia Type 14

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spinocerebellar Ataxia Type 14

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet