SCA14
MCID: SPN075
MIFTS: 35

Spinocerebellar Ataxia Type 14 (SCA14) malady

Neuronal diseases category

Summaries for Spinocerebellar Ataxia Type 14

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Sources:
46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: Spinocerebellar Ataxia Type 14, also known as spinocerebellar ataxia 14, is related to spinocerebellar ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia Type 14 is PRKCG (protein kinase C, gamma), and among its related pathways are Wnt signaling pathway and Basal cell carcinoma. The compound pkcs have been mentioned in the context of this disorder.

Description from OMIM:46 605361

GeneReviews summary for sca14

Aliases & Classifications for Spinocerebellar Ataxia Type 14

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Sources:
19GeneReviews, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 22GTR, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

spinocerebellar ataxia type 14 19 42 48
spinocerebellar ataxia 14 42 22 46 60
sca14 19 42 44 48


External Ids:

OMIM46 605361
MESH via Orphanet35 C537196
ICD10 via Orphanet26 G11
UMLS via Orphanet61 C1854369

Related Diseases for Spinocerebellar Ataxia Type 14

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Spinocerebellar Ataxia Type 14:



Diseases related to spinocerebellar ataxia type 14

Clinical Features for Spinocerebellar Ataxia Type 14

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46OMIM
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Clinical features from OMIM:

605361

Clinical synopsis from OMIM:

605361

Drugs & Therapeutics for Spinocerebellar Ataxia Type 14

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Spinocerebellar Ataxia Type 14

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 14

Search NIH Clinical Center for Spinocerebellar Ataxia Type 14

Search CenterWatch for Spinocerebellar Ataxia Type 14

Genetic Tests for Spinocerebellar Ataxia Type 14

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22GTR
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Genetic tests related to Spinocerebellar Ataxia Type 14:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1422

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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Publications for Spinocerebellar Ataxia Type 14

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Sources:
50PubMed
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Articles related to Spinocerebellar Ataxia Type 14:

(show all 26)
idTitleAuthorsYear
1
Clinical and neurophysiological profile of four german families with spinocerebellar ataxia type 14. (24030789)
2014
2
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
3
A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14. (23604456)
2013
4
Mutant I^PKC that causes spinocerebellar ataxia type 14 upregulates Hsp70, which protects cells from the mutant's cytotoxicity. (24021284)
2013
5
Spinocerebellar ataxia type 14. (21827914)
2012
6
Mutant PKCI^ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo. (21976518)
2011
7
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)
2010
8
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
9
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. (20398063)
2010
10
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
11
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. (19041943)
2009
12
Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14). (19050414)
2008
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 caused by a mutation in protein kinase C gamma. (14676051)
2003
25
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. (7897622)
1995
26
Spinocerebellar Ataxia Type 14 (20301573)
1993

Genetic Variations for Spinocerebellar Ataxia Type 14

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spinocerebellar Ataxia Type 14:

62
id Symbol AA change Variation ID SNP ID
1PRKCGp.His101TyrVAR_017060
2PRKCGp.Ser119ProVAR_017061
3PRKCGp.Gly128AspVAR_017062

Expression for genes affiliated with Spinocerebellar Ataxia Type 14

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
29KEGG, 52R&D Systems, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 12EMD Millipore, 49PharmGKB
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Pathways related to Spinocerebellar Ataxia Type 14 according to GeneCards/GeneDecks:

(show all 37)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3PRKACG, PRKCG
2
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9.3PRKACG, PRKCG
3
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9.3PRKACG, PRKCG
4
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9.3PRKACG, PRKCG
59.3PRKACG, PRKCG
6
Hide members
9.3PRKACG, PRKCG
7
Hide members
9.3PRKACG, PRKCG
8
Translation Insulin regulation of translation
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9.3PRKACG, PRKCG
9
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9.3PRKACG, PRKCG
10
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9.3PRKACG, PRKCG
11
Hide members
9.3PRKACG, PRKCG
12
Hide members
9.3PRKACG, PRKCG
13
Hide members
9.3PRKACG, PRKCG
14
Hide members
9.3PRKCG, PRKACG
15
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.3PRKCG, PRKACG
16
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9.3PRKCG, PRKACG
179.3PRKCG, PRKACG
18
Hide members
9.3PRKCG, PRKACG
19
Hide members
9.3PRKCG, PRKACG
209.3PRKCG, PRKACG
21
Hide members
9.3PRKCG, PRKACG
22
Hide members
9.3PRKCG, PRKACG
23
Hide members
9.3PRKCG, PRKACG
24
Hide members
9.3PRKCG, PRKACG
25
Hide members
9.3PRKCG, PRKACG
26
Hide members
9.3PRKCG, PRKACG
279.3PRKCG, PRKACG
28
Hide members
9.3PRKCG, PRKACG
29
Development Ligand-independent activation of ESR1 and ESR2
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9.3PRKCG, PRKACG
309.3PRKCG, PRKACG
319.3PRKCG, PRKACG
32
Hide members
9.3PRKCG, PRKACG
33
Signal transduction cAMP signaling
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9.3PRKCG, PRKACG
349.3PRKCG, PRKACG
359.3PRKCG, PRKACG
36
Hide members
9.3PRKCG, PRKACG
37
Hide members
9.3PRKCG, PRKACG

Compounds for genes affiliated with Spinocerebellar Ataxia Type 14

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44Novoseek
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Compounds related to Spinocerebellar Ataxia Type 14 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pkcs449.3PRKCG, PRKACG

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 14

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16Gene Ontology
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Biological processes related to Spinocerebellar Ataxia Type 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1activation of phospholipase C activityGO:0072029.3PRKCG, PRKACG
2neurotrophin TRK receptor signaling pathwayGO:0480119.3PRKCG, PRKACG
3fibroblast growth factor receptor signaling pathwayGO:0085439.2PRKCG, PRKACG
4epidermal growth factor receptor signaling pathwayGO:0071739.0PRKCG, PRKACG

Products for genes affiliated with Spinocerebellar Ataxia Type 14

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 14

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet