SCA15
MCID: SPN076
MIFTS: 29

Spinocerebellar Ataxia Type 15 (SCA15) malady

Neuronal diseases category

Summaries for Spinocerebellar Ataxia Type 15

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Sources:
42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 spinocerebellar ataxia type15. An important gene associated with Spinocerebellar Ataxia Type 15 is ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1). Affiliated tissues include eye, brain and testes.

Description from OMIM:46 606658

GeneReviews summary for sca15

Aliases & Classifications for Spinocerebellar Ataxia Type 15

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

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


Characteristics (Orphanet epidemiological data):

48
spinocerebellar ataxia type 15/16:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 15 19 42
spinocerebellar ataxia 15 42 22 46 60
sca15 19 42 44
spinocerebellar ataxia type 15/16 48
spinocerebellar ataxia 16 42
sca15/16 48
sca16 42


External Ids:

OMIM46 606658
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia Type 15

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17GeneCards, 18GeneDecks
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Clinical Features for Spinocerebellar Ataxia Type 15

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46OMIM
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Clinical features from OMIM:

606658

Clinical synopsis from OMIM:

606658

Drugs & Therapeutics for Spinocerebellar Ataxia Type 15

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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 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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22GTR
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Genetic tests related to Spinocerebellar Ataxia Type 15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1522

Anatomical Context for Spinocerebellar Ataxia Type 15

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32MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 15:

32
Eye, Brain, Testes

Animal Models for Spinocerebellar Ataxia Type 15 or affiliated genes

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Publications for Spinocerebellar Ataxia Type 15

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50PubMed
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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 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. (17934876)
2007
8
Spinocerebellar ataxia type 15. (15895559)
2005
9
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
10
Spinocerebellar Ataxia Type 15 (20301536)
1993

Genetic Variations for Spinocerebellar Ataxia Type 15

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spinocerebellar Ataxia Type 15:

62
id Symbol AA change Variation ID SNP ID
1ITPR1p.Pro1059LeuVAR_069568

Expression for genes affiliated with Spinocerebellar Ataxia Type 15

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1BioGPS, 15Gene 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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Compounds for genes affiliated with Spinocerebellar Ataxia Type 15

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GO Terms for genes affiliated with Spinocerebellar Ataxia Type 15

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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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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