MCID: SPN296
MIFTS: 34

Spinocerebellar Ataxia 17 malady

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

Summaries for Spinocerebellar Ataxia 17

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OMIM:45 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs,... (607136) more...

MalaCards based summary: Spinocerebellar Ataxia 17, also known as spinocerebellar ataxia type 17, is related to spinocerebellar ataxia and ataxia, and has symptoms including autosomal dominant inheritance, urinary incontinence and gaze-evoked nystagmus. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA box binding protein). Affiliated tissues include brain.

GeneReviews summary for sca17

Aliases & Classifications for Spinocerebellar Ataxia 17

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Spinocerebellar Ataxia 17, Aliases & Descriptions:

Name: Spinocerebellar Ataxia 17 45 10 41 60
Spinocerebellar Ataxia Type 17 19 41 47 22
Sca17 19 41 43 47
 
Huntington Disease-Like 4 19 41 47
Hdl4 19 41 47
Sca 17 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
spinocerebellar ataxia type 17:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Japan),1-9/1000000 (United Kingdom); Age of onset: All ages


External Ids:

OMIM45 607136
Orphanet47 98759
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia 17

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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 17 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia10.7
2ataxia10.7
3frontal lobe epilepsy10.3
4dementia10.3
5huntington disease10.2
6dystonia10.2
7focal dystonia10.2
8huntington disease-like syndrome10.1
9cerebellar ataxia10.1

Graphical network of diseases related to Spinocerebellar Ataxia 17:



Diseases related to spinocerebellar ataxia 17

Symptoms for Spinocerebellar Ataxia 17

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Symptoms by clinical synopsis from OMIM:

607136

Clinical features from OMIM:

607136

HPO human phenotypes related to Spinocerebellar Ataxia 17:

(show all 34)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urinary incontinence HP:0000020
3 gaze-evoked nystagmus HP:0000640
4 depression HP:0000716
5 aggressive behavior HP:0000718
6 frontal lobe dementia HP:0000727
7 hallucinations HP:0000738
8 frontal release signs HP:0000743
9 lack of insight HP:0000757
10 seizures HP:0001250
11 dysarthria HP:0001260
12 cerebellar atrophy HP:0001272
13 confusion HP:0001289
14 parkinsonism HP:0001300
15 dysmetria HP:0001310
16 dystonia HP:0001332
17 myoclonus HP:0001336
18 dysphagia HP:0002015
19 rigidity HP:0002063
20 gait ataxia HP:0002066
21 bradykinesia HP:0002067
22 limb ataxia HP:0002070
23 chorea HP:0002072
24 intention tremor HP:0002080
25 broad-based gait HP:0002136
26 gliosis HP:0002171
27 apraxia HP:0002186
28 mutism HP:0002300
29 positive romberg sign HP:0002403
30 diffuse cerebral atrophy HP:0002506
31 neuronal loss in central nervous system HP:0002529
32 progressive disorder HP:0003676
33 impaired pursuit initiation and maintenance HP:0007668
34 paranoia HP:0011999

Drugs & Therapeutics for Spinocerebellar Ataxia 17

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia 17

Search NIH Clinical Center for Spinocerebellar Ataxia 17

Genetic Tests for Spinocerebellar Ataxia 17

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Genetic tests related to Spinocerebellar Ataxia 17:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1722

Anatomical Context for Spinocerebellar Ataxia 17

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MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

31
Brain

Animal Models for Spinocerebellar Ataxia 17 or affiliated genes

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Publications for Spinocerebellar Ataxia 17

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Articles related to Spinocerebellar Ataxia 17:

idTitleAuthorsYear
1
From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. (25349749)
2014
2
Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings. (24339615)
2013
3
Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). (22659444)
2012
4
Regulation of BACE1 by miR-29a/b in a cellular model of Spinocerebellar Ataxia 17. (22664922)
2012
5
CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. (21311576)
2011
6
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. (20016963)
2010
7
Difficulty identifying spinocerebellar ataxia 17 from preceding psychiatric symptoms. (18950389)
2008
8
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). (18418687)
2008
9
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. (16532453)
2006
10
Focal dystonia as a presenting sign of spinocerebellar ataxia 17. (14978680)
2004

Variations for Spinocerebellar Ataxia 17

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Clinvar genetic disease variations for Spinocerebellar Ataxia 17:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TBPNM_003194.4(TBP): c.172_174CAG(25_42) (p.Gln95(25_42))NT expansionPathogenic, risk factorGRCh37Chr 6, 170870996: 170871004

Expression for genes affiliated with Spinocerebellar Ataxia 17

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 17.

Pathways for genes affiliated with Spinocerebellar Ataxia 17

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Compounds for genes affiliated with Spinocerebellar Ataxia 17

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GO Terms for genes affiliated with Spinocerebellar Ataxia 17

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Products for genes affiliated with Spinocerebellar Ataxia 17

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

Sources for Spinocerebellar Ataxia 17

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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