SCA14
MCID: SPN075
MIFTS: 24

Spinocerebellar Ataxia Type 14 (SCA14) malady

Neuronal category

Summaries for Spinocerebellar Ataxia Type 14

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Spinocerebellar Ataxia Type 14, also known as spinocerebellar ataxia 14, is related to spinocerebellar ataxia and 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:47 605361

GeneReviews summary for sca14

Aliases & Classifications for Spinocerebellar Ataxia Type 14

Sources:
19GeneReviews, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
sca14:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spinocerebellar ataxia type 14 19 43 49
spinocerebellar ataxia 14 43 22 47 61
sca14 19 43 45 49


External Ids:

OMIM47 605361
MESH via Orphanet36 C537196
ICD10 via Orphanet26 G11
UMLS via Orphanet62 C1854369

Related Diseases for Spinocerebellar Ataxia Type 14

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Spinocerebellar Ataxia Type 14:



Diseases related to spinocerebellar ataxia type 14

Clinical Features for Spinocerebellar Ataxia Type 14

Sources:
47OMIM
See all sources

Clinical features from OMIM:

605361

Clinical synopsis from OMIM:

605361

Drugs & Therapeutics for Spinocerebellar Ataxia Type 14

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Animal Models for Spinocerebellar Ataxia Type 14 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Spinocerebellar Ataxia Type 14

Genetic Variations for Spinocerebellar Ataxia Type 14

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Spinocerebellar Ataxia Type 14:

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

Expression for genes affiliated with Spinocerebellar Ataxia Type 14

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 53R&D Systems, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 12EMD Millipore, 50PharmGKB
See all sources

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
Hide members
9.3PRKACG, PRKCG
3
Hide members
9.3PRKACG, PRKCG
4
Hide members
9.3PRKACG, PRKCG
59.3PRKACG, PRKCG
6
Hide members
9.3PRKACG, PRKCG
7
Hide members
9.3PRKACG, PRKCG
8
Translation Insulin regulation of translation
Hide members
9.3PRKACG, PRKCG
9
Hide members
9.3PRKACG, PRKCG
10
Hide members
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
Hide members
9.3PRKCG, PRKACG
16
Hide members
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
Hide members
9.3PRKCG, PRKACG
309.3PRKCG, PRKACG
319.3PRKCG, PRKACG
32
Hide members
9.3PRKCG, PRKACG
33
Signal transduction cAMP signaling
Hide members
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

Sources:
45Novoseek
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Compounds related to Spinocerebellar Ataxia Type 14 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pkcs459.3PRKCG, PRKACG

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 14

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 14

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet