SCA11
MCID: SPN072
MIFTS: 31

Spinocerebellar Ataxia Type 11 (SCA11) 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 11

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MalaCards based summary: Spinocerebellar Ataxia Type 11, also known as spinocerebellar ataxia 11, is related to spinocerebellar ataxia and ataxia, and has symptoms including 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:46 604432

GeneReviews summary for sca11

Aliases & Classifications for Spinocerebellar Ataxia Type 11

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Sources:
19GeneReviews, 42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Spinocerebellar Ataxia Type 11, Aliases & Descriptions:

Name: Spinocerebellar Ataxia Type 11 19 42 48
Spinocerebellar Ataxia 11 42 22 46 62
 
Sca11 19 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
spinocerebellar ataxia type 11:
Inheritance: Autosomal dominant


External Ids:

OMIM46 604432
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia Type 11

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Symptoms for Spinocerebellar Ataxia Type 11

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Symptoms by clinical synopsis from OMIM:

604432

Clinical features from OMIM:

604432

HPO human phenotypes related to Spinocerebellar Ataxia Type 11:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nystagmus HP:0000639
3 dysarthria HP:0001260
4 cerebellar atrophy HP:0001272
5 hyperreflexia HP:0001347
6 progressive cerebellar ataxia HP:0002073
7 adult onset HP:0003581

Drugs & Therapeutics for Spinocerebellar Ataxia Type 11

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 11

Search NIH Clinical Center for Spinocerebellar Ataxia Type 11

Genetic Tests for Spinocerebellar Ataxia Type 11

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Genetic tests related to Spinocerebellar Ataxia Type 11:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1122

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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MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 11:

36
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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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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Clinvar genetic disease variations for Spinocerebellar Ataxia Type 11:

6
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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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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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

Sources for Spinocerebellar Ataxia Type 11

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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