SCA11
MCID: SPN072
MIFTS: 23

Spinocerebellar Ataxia Type 11 (SCA11) malady

Neuronal diseases category

Summaries for Spinocerebellar Ataxia Type 11

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Sources:
46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: Spinocerebellar Ataxia Type 11, also known as spinocerebellar ataxia 11, is related to spinocerebellar ataxia and spinocerebellar ataxia, autosomal recessive 11. An important gene associated with Spinocerebellar Ataxia Type 11 is TTBK2 (tau tubulin kinase 2).

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, 60UMLS, 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 11:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 11 19 42 48
spinocerebellar ataxia 11 42 22 46 60
sca11 19 42 48


External Ids:

OMIM46 604432
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia Type 11

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Sources:
17GeneCards, 18GeneDecks
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Clinical Features for Spinocerebellar Ataxia Type 11

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Sources:
46OMIM
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Clinical features from OMIM:

604432

Clinical synopsis from OMIM:

604432

Drugs & Therapeutics for Spinocerebellar Ataxia Type 11

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
22GTR
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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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Publications for Spinocerebellar Ataxia Type 11

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Sources:
50PubMed
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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 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. (7874171)
1994
7
Spinocerebellar Ataxia Type 11 (20301723)
1993

Genetic Variations for Spinocerebellar Ataxia Type 11

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Expression for genes affiliated with Spinocerebellar Ataxia Type 11

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Sources:
1BioGPS, 15Gene 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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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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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