MCID: SPN305
MIFTS: 22

Spinocerebellar Ataxia 11 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Mental diseases, Metabolic diseases, Cardiovascular diseases categories

Aliases & Classifications for Spinocerebellar Ataxia 11

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 60UMLS, 19GeneReviews, 47Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Spinocerebellar Ataxia 11, Aliases & Descriptions:

Name: Spinocerebellar Ataxia 11 45 10 41 60
Spinocerebellar Ataxia Type 11 19 41 47 22
 
Sca11 19 41 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
spinocerebellar ataxia type 11:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly


External Ids:

OMIM45 604432
Orphanet47 98767
ICD10 via Orphanet26 G11

Summaries for Spinocerebellar Ataxia 11

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MalaCards based summary: Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to spinocerebellar ataxia and ataxia, and has symptoms including autosomal dominant inheritance, nystagmus and dysarthria. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (tau tubulin kinase 2).

Description from OMIM:45 604432

GeneReviews summary for sca11

Related Diseases for Spinocerebellar Ataxia 11

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Diseases in the Spinocerebellar Ataxia family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 5 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
spinocerebellar ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 5
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 19/22 Spinocerebellar Ataxia 9

Diseases related to Spinocerebellar Ataxia 11 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia10.7
2ataxia10.7
3spinocerebellar ataxia, autosomal recessive 1110.3
4autosomal recessive cerebellar ataxia - psychomotor retardation10.3
5spinocerebellar ataxia 110.1

Graphical network of diseases related to Spinocerebellar Ataxia 11:



Diseases related to spinocerebellar ataxia 11

Symptoms for Spinocerebellar Ataxia 11

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Symptoms by clinical synopsis from OMIM:

604432

Clinical features from OMIM:

604432

HPO human phenotypes related to Spinocerebellar Ataxia 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 11

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia 11

Search NIH Clinical Center for Spinocerebellar Ataxia 11

Genetic Tests for Spinocerebellar Ataxia 11

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Genetic tests related to Spinocerebellar Ataxia 11:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1122

Anatomical Context for Spinocerebellar Ataxia 11

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Animal Models for Spinocerebellar Ataxia 11 or affiliated genes

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Publications for Spinocerebellar Ataxia 11

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Variations for Spinocerebellar Ataxia 11

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Clinvar genetic disease variations for Spinocerebellar Ataxia 11:

6
id Gene Variation 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 11

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

Pathways for genes affiliated with Spinocerebellar Ataxia 11

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Compounds for genes affiliated with Spinocerebellar Ataxia 11

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GO Terms for genes affiliated with Spinocerebellar Ataxia 11

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Products for genes affiliated with Spinocerebellar Ataxia 11

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spinocerebellar Ataxia 11

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet