SCA15
MCID: SPN076
MIFTS: 37

Spinocerebellar Ataxia Type 15 (SCA15) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Metabolic diseases, Skin diseases categories
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Summaries for Spinocerebellar Ataxia Type 15

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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 based summary: Spinocerebellar Ataxia Type 15, also known as spinocerebellar ataxia 15, is related to spinocerebellar ataxia and ataxia, and has symptoms including 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:46 606658

GeneReviews summary for sca15

Aliases & Classifications for Spinocerebellar Ataxia Type 15

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Sources:
19GeneReviews, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Spinocerebellar Ataxia Type 15, Aliases & Descriptions:

Name: Spinocerebellar Ataxia Type 15 19 42
Spinocerebellar Ataxia 15 42 22 46 62
Sca15 19 42 44
Sca16 42 48
 
Spinocerebellar Ataxia Type 15/16 48
Spinocerebellar Ataxia Type 16 48
Spinocerebellar Ataxia 16 42
Sca15/16 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 606658
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia Type 15

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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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Symptoms by clinical synopsis from OMIM:

606658

Clinical features from OMIM:

606658

HPO human phenotypes related to Spinocerebellar Ataxia Type 15:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dysmetric saccades HP:0000641
3 dysarthria HP:0001260
4 cerebellar atrophy HP:0001272
5 hyperreflexia HP:0001347
6 gait ataxia HP:0002066
7 limb ataxia HP:0002070
8 truncal ataxia HP:0002078
9 scanning speech HP:0002168
10 postural tremor HP:0002174
11 action tremor HP:0002345
12 adult onset HP:0003581
13 juvenile onset HP:0003621
14 slow progression HP:0003677
15 impaired smooth pursuit HP:0007772
16 gaze-evoked horizontal nystagmus HP:0007979

Drugs & Therapeutics for Spinocerebellar Ataxia Type 15

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 15

Search NIH Clinical Center for Spinocerebellar Ataxia Type 15

Genetic Tests for Spinocerebellar Ataxia Type 15

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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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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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MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 15:

36
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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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
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. (21367767)
2011
5
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. (19423733)
2009
6
Spinocerebellar ataxia type 15. (15895559)
2005
7
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
8
Spinocerebellar Ataxia Type 15 (20301536)
1993

Variations for Spinocerebellar Ataxia Type 15

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

64
id Symbol AA change Variation ID SNP ID
1ITPR1p.Pro1059LeuVAR_069568

Clinvar genetic disease variations for Spinocerebellar Ataxia Type 15:

6
id Gene Name Type Significance SNP ID Assembly Location
1ITPR1NC_000003.12deletionPathogenicGRCh38Chr 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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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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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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Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Spinocerebellar Ataxia Type 15 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 50 24 1112.1ITPR1, SUMF1

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 15

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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet