SCA15
MCID: SPN076
MIFTS: 20

Spinocerebellar Ataxia Type 15 (SCA15) malady

Neuronal category

Summaries for Spinocerebellar Ataxia Type 15

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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). Affiliated tissues include brain.

Description from OMIM:47 606658

GeneReviews summary for sca15

Aliases & Classifications for Spinocerebellar Ataxia Type 15

Sources:
19GeneReviews, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spinocerebellar ataxia type 15/16:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 15 19 43
spinocerebellar ataxia 15 43 22 47 61
sca15 19 43 45
spinocerebellar ataxia type 15/16 49
spinocerebellar ataxia 16 43
sca15/16 49
sca16 43


External Ids:

OMIM47 606658
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia Type 15

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Spinocerebellar Ataxia Type 15:



Diseases related to spinocerebellar ataxia type 15

Clinical Features for Spinocerebellar Ataxia Type 15

Sources:
47OMIM
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Clinical features from OMIM:

606658

Clinical synopsis from OMIM:

606658

Drugs & Therapeutics for Spinocerebellar Ataxia Type 15

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 15:

33
Brain

Animal Models for Spinocerebellar Ataxia Type 15 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Spinocerebellar Ataxia Type 15

Genetic Variations for Spinocerebellar Ataxia Type 15

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Spinocerebellar Ataxia Type 15:

63
id Symbol AA change Variation SNP ID
1ITPR1p.Pro1059LeuVAR_069568

Expression for genes affiliated with Spinocerebellar Ataxia Type 15

Sources:
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

Compounds for genes affiliated with Spinocerebellar Ataxia Type 15

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 15

Products for genes affiliated with Spinocerebellar Ataxia Type 15

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 15

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet