SCA15
MCID: SPN076
MIFTS: 36

Spinocerebellar Ataxia Type 15 (SCA15) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Skin diseases, Muscle diseases categories

Summaries for Spinocerebellar Ataxia Type 15

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44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Spinocerebellar ataxia 15 (sca15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. the onset of symptoms typically occurs between ages 7 and 66 years. the ability to walk independently is often maintained for many years following onset of symptoms. sca15 is caused by mutations in the itpr1 gene. it is inherited in an autosomal dominant manner. diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. there is no effective treatment known to modify disease progression. patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.  last updated: 1/22/2013

MalaCards: Spinocerebellar Ataxia Type 15, also known as spinocerebellar ataxia 15, is related to spinocerebellar ataxia and ataxia. An important gene associated with Spinocerebellar Ataxia Type 15 is ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1), and among its related pathways is Metabolism. The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related mouse phenotypes are nervous system and behavior/neurological.

Description from OMIM:48 606658

GeneReviews summary for sca15

Aliases & Classifications for Spinocerebellar Ataxia Type 15

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20GeneReviews, 44NIH Rare Diseases, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
spinocerebellar ataxia type 15/16:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 15 20 44
spinocerebellar ataxia 15 44 23 48 63
sca15 20 44 46
spinocerebellar ataxia type 15/16 50
spinocerebellar ataxia 16 44
sca15/16 50
sca16 44


External Ids:

OMIM48 606658
ICD10 via Orphanet27 G11

Related Diseases for Spinocerebellar Ataxia Type 15

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Spinocerebellar Ataxia Type 15:



Diseases related to spinocerebellar ataxia type 15

Symptoms for Spinocerebellar Ataxia Type 15

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48OMIM
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Symptoms by clinical synopsis from OMIM:

606658

Clinical features from OMIM:

606658

Drugs & Therapeutics for Spinocerebellar Ataxia Type 15

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Spinocerebellar Ataxia Type 15

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 15

Search NIH Clinical Center for Spinocerebellar Ataxia Type 15

Search CenterWatch for Spinocerebellar Ataxia Type 15

Genetic Tests for Spinocerebellar Ataxia Type 15

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23GTR
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Genetic tests related to Spinocerebellar Ataxia Type 15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1523

Anatomical Context for Spinocerebellar Ataxia Type 15

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34MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 15:

34
Eye, Brain, Testes

Animal Models for Spinocerebellar Ataxia Type 15 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 15:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.1ITPR1, SUMF1
2MP:00053869.0ITPR1, SUMF1
3MP:00053848.8ITPR1, SUMF1

Publications for Spinocerebellar Ataxia Type 15

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53PubMed
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Articles related to Spinocerebellar Ataxia Type 15:

idTitleAuthorsYear
1
Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15. (23495097)
2013
2
Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage. (22318346)
2012
3
Spinocerebellar ataxia type 15. (21827915)
2012
4
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. (21382133)
2011
5
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. (21367767)
2011
6
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. (19423733)
2009
7
Spinocerebellar ataxia type 15. (15895559)
2005
8
Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. (12828938)
2003
9
Spinocerebellar Ataxia Type 15 (20301536)
1993

Variations for Spinocerebellar Ataxia Type 15

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia Type 15:

65
id Symbol AA change Variation ID SNP ID
1ITPR1p.Pro1059LeuVAR_069568

Clinvar genetic disease variations for Spinocerebellar Ataxia Type 15:

1
id Gene Name Type Significance SNP ID Assembly Location
1ITPR1NC_000003.12: g.(4480596_4480597)_(4793914_4793915)deldeletionPathogenicGRCh38Chr 3, 4480597: 4793914
2ITPR1NM_001168272.1(ITPR1): c.3203C> T (p.Pro1068Leu)single nucleotide variantPathogenicrs121912425GRCh37Chr 3, 4725156: 4725156

Expression for genes affiliated with Spinocerebellar Ataxia Type 15

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type 15

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type 15.

Pathways for genes affiliated with Spinocerebellar Ataxia Type 15

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Spinocerebellar Ataxia Type 15 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ITPR1, SUMF1

Compounds for genes affiliated with Spinocerebellar Ataxia Type 15

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Spinocerebellar Ataxia Type 15 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium46 52 25 1212.1ITPR1, SUMF1

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 15

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17Gene Ontology
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Biological processes related to Spinocerebellar Ataxia Type 15 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1ITPR1, SUMF1

Products for genes affiliated with Spinocerebellar Ataxia Type 15

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 15

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet