MCID: SPN170
MIFTS: 10

Spinocerebellar Ataxia Type15 malady

Category: Genetic diseases (common)

Aliases & Classifications for Spinocerebellar Ataxia Type15

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Aliases & Descriptions for Spinocerebellar Ataxia Type15:

Name: Spinocerebellar Ataxia Type15 24
Spinocerebellar Ataxia 15 67
 
Sca 15 24
Sca15 24

Classifications:



Summaries for Spinocerebellar Ataxia Type15

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MalaCards based summary: Spinocerebellar Ataxia Type15, also known as spinocerebellar ataxia 15, is related to spinocerebellar ataxia 15 and spinocerebellar ataxia 29, congenital nonprogressive, and has symptoms including cerebellar ataxia, action tremor and static tremor. An important gene associated with Spinocerebellar Ataxia Type15 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1).

Related Diseases for Spinocerebellar Ataxia Type15

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Diseases related to Spinocerebellar Ataxia Type15 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 1511.7
2spinocerebellar ataxia 29, congenital nonprogressive10.8
3ataxia10.1

Symptoms for Spinocerebellar Ataxia Type15

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UMLS symptoms related to Spinocerebellar Ataxia Type15:


cerebellar ataxia, action tremor, static tremor, scanning speech, ataxia, truncal, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia Type15

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia Type15

Genetic Tests for Spinocerebellar Ataxia Type15

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Genetic tests related to Spinocerebellar Ataxia Type15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type1524 ITPR1

Anatomical Context for Spinocerebellar Ataxia Type15

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Animal Models for Spinocerebellar Ataxia Type15 or affiliated genes

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Publications for Spinocerebellar Ataxia Type15

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Variations for Spinocerebellar Ataxia Type15

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Clinvar genetic disease variations for Spinocerebellar Ataxia Type15:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ITPR1NC_000003.12deletionPathogenicGRCh38Chr 3, 4480596: 4793915
2ITPR1NM_002222.5(ITPR1): c.3176C> T (p.Pro1059Leu)SNVPathogenicrs121912425GRCh37Chr 3, 4725156: 4725156
3ITPR1NM_001168272.1(ITPR1): c.7739G> A (p.Gly2580Glu)SNVPathogenicrs869312685GRCh38Chr 3, 4815135: 4815135

Expression for genes affiliated with Spinocerebellar Ataxia Type15

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Search GEO for disease gene expression data for Spinocerebellar Ataxia Type15.

Pathways for genes affiliated with Spinocerebellar Ataxia Type15

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GO Terms for genes affiliated with Spinocerebellar Ataxia Type15

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Sources for Spinocerebellar Ataxia Type15

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet