SCA11
MCID: SPN072
MIFTS: 31

Spinocerebellar Ataxia Type 11 (SCA11) malady

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

Summaries for Spinocerebellar Ataxia Type 11

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Sources:
48OMIM, 20GeneReviews, 34MalaCards
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MalaCards: Spinocerebellar Ataxia Type 11, also known as spinocerebellar ataxia 11, is related to spinocerebellar ataxia and ataxia. An important gene associated with Spinocerebellar Ataxia Type 11 is TTBK2 (tau tubulin kinase 2). Related mouse phenotypes are growth/size/body and cellular.

Description from OMIM:48 604432

GeneReviews summary for sca11

Aliases & Classifications for Spinocerebellar Ataxia Type 11

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



Characteristics (Orphanet epidemiological data):

50
spinocerebellar ataxia type 11:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 11 20 44 50
spinocerebellar ataxia 11 44 23 48 63
sca11 20 44 50


External Ids:

OMIM48 604432
ICD10 via Orphanet27 G11

Related Diseases for Spinocerebellar Ataxia Type 11

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Spinocerebellar Ataxia Type 11:



Diseases related to spinocerebellar ataxia type 11

Symptoms for Spinocerebellar Ataxia Type 11

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48OMIM
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Symptoms by clinical synopsis from OMIM:

604432

Clinical features from OMIM:

604432

Drugs & Therapeutics for Spinocerebellar Ataxia Type 11

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Spinocerebellar Ataxia Type 11

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 11

Search NIH Clinical Center for Spinocerebellar Ataxia Type 11

Search CenterWatch for Spinocerebellar Ataxia Type 11

Genetic Tests for Spinocerebellar Ataxia Type 11

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23GTR
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Genetic tests related to Spinocerebellar Ataxia Type 11:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1123

Anatomical Context for Spinocerebellar Ataxia Type 11

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Animal Models for Spinocerebellar Ataxia Type 11 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 11:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053789.1MAPT, TTBK2
2MP:00053849.0MAPT, TTBK2
3MP:00036318.8MAPT, TTBK2

Publications for Spinocerebellar Ataxia Type 11

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53PubMed
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Articles related to Spinocerebellar Ataxia Type 11:

idTitleAuthorsYear
1
Spinocerebellar ataxia type 11. (21827911)
2012
2
Spinocerebellar ataxia type 11 in the Chinese Han population. (19768375)
2010
3
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. (20667868)
2010
4
Clinical and genetic analysis of spinocerebellar ataxia type 11. (18418680)
2008
5
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. (18037885)
2007
6
Spinocerebellar Ataxia Type 11 (20301723)
1993

Variations for Spinocerebellar Ataxia Type 11

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Spinocerebellar Ataxia Type 11:

1
id Gene Name Type Significance SNP ID Assembly Location
1TTBK2NM_173500.3(TTBK2): c.1306_1307delGA (p.Asp436Tyrfs)deletionPathogenicrs318240735GRCh37Chr 15, 43069331: 43069332
2TTBK2NM_173500.3(TTBK2): c.1329dupA (p.Arg444Thrfs)duplicationPathogenicrs80356538GRCh37Chr 15, 43069308: 43069309
3TTBK2NM_173500.3(TTBK2): c.1284_1285delAG (p.Glu429Aspfs)deletionPathogenicrs80356539GRCh37Chr 15, 43069353: 43069354

Expression for genes affiliated with Spinocerebellar Ataxia Type 11

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type 11

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type 11.

Pathways for genes affiliated with Spinocerebellar Ataxia Type 11

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Compounds for genes affiliated with Spinocerebellar Ataxia Type 11

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GO Terms for genes affiliated with Spinocerebellar Ataxia Type 11

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Sources:
17Gene Ontology
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Cellular components related to Spinocerebellar Ataxia Type 11 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058299.1MAPT, TTBK2

Products for genes affiliated with Spinocerebellar Ataxia Type 11

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 11

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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