MCID: SPN312
MIFTS: 27

Spinocerebellar Ataxia 14 malady

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

Summaries for Spinocerebellar Ataxia 14

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MalaCards based summary: Spinocerebellar Ataxia 14, also known as spinocerebellar ataxia type 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 14 is PRKCG (protein kinase C, gamma).

Description from OMIM:45 605361

GeneReviews summary for sca14

Aliases & Classifications for Spinocerebellar Ataxia 14

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 60UMLS, 19GeneReviews, 47Orphanet, 22GTR, 43Novoseek, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Spinocerebellar Ataxia 14, Aliases & Descriptions:

Name: Spinocerebellar Ataxia 14 45 10 41 60
Spinocerebellar Ataxia Type 14 19 41 47 22
 
Sca14 19 41 43 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
spinocerebellar ataxia type 14:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM45 605361
Orphanet47 98763
MESH via Orphanet34 C537196
ICD10 via Orphanet26 G11
UMLS via Orphanet61 C1854369

Related Diseases for Spinocerebellar Ataxia 14

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Diseases in the Spinocerebellar Ataxia 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 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
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 2 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 5
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 19/22 Spinocerebellar Ataxia 9

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

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia10.5
2ataxia10.5
3cerebellar ataxia10.4
4neuronitis10.3
5dystonia10.3
6myoclonus10.3
7tremor10.3
8spectrin-associated autosomal recessive cerebellar ataxia10.3

Graphical network of diseases related to Spinocerebellar Ataxia 14:



Diseases related to spinocerebellar ataxia 14

Symptoms for Spinocerebellar Ataxia 14

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Symptoms by clinical synopsis from OMIM:

605361

Clinical features from OMIM:

605361

HPO human phenotypes related to Spinocerebellar Ataxia 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 14

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia 14

Search NIH Clinical Center for Spinocerebellar Ataxia 14

Genetic Tests for Spinocerebellar Ataxia 14

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Genetic tests related to Spinocerebellar Ataxia 14:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1422

Anatomical Context for Spinocerebellar Ataxia 14

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Animal Models for Spinocerebellar Ataxia 14 or affiliated genes

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Publications for Spinocerebellar Ataxia 14

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Articles related to Spinocerebellar Ataxia 14:

idTitleAuthorsYear
1
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. (17149711)
2007
2
The clinical and genetic spectrum of spinocerebellar ataxia 14. (15824357)
2005
3
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. (15618281)
2005

Variations for Spinocerebellar Ataxia 14

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

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

Clinvar genetic disease variations for Spinocerebellar Ataxia 14:

6 (show all 27)
id Gene Variation 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 14

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

Pathways for genes affiliated with Spinocerebellar Ataxia 14

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Compounds for genes affiliated with Spinocerebellar Ataxia 14

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GO Terms for genes affiliated with Spinocerebellar Ataxia 14

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Products for genes affiliated with Spinocerebellar Ataxia 14

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

Sources for Spinocerebellar Ataxia 14

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet