HDL4
MCID: SPN077
MIFTS: 50

Spinocerebellar Ataxia Type 17 (HDL4) malady

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

Summaries for Spinocerebellar Ataxia Type 17

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Sources:
48OMIM, 20GeneReviews, 34MalaCards
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MalaCards: Spinocerebellar Ataxia Type 17, also known as spinocerebellar ataxia 17, is related to spinocerebellar ataxia and parkinson's disease. An important gene associated with Spinocerebellar Ataxia Type 17 is TBP (TATA box binding protein), and among its related pathways are Regulation of retinoblastoma protein and Parkinsons Disease Pathway. The compounds 6-hydroxydopamine and delta-12-pgj2 have been mentioned in the context of this disorder. Affiliated tissues include eye.

Description from OMIM:48 607136

GeneReviews summary for sca17

Aliases & Classifications for Spinocerebellar Ataxia Type 17

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Sources:
20GeneReviews, 44NIH Rare Diseases, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
spinocerebellar ataxia type 17:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

spinocerebellar ataxia type 17 20 44 50
spinocerebellar ataxia 17 44 23 48 63
sca17 20 46 50
huntington disease-like 4 20 50
hdl4 20 50
sca 17 44


External Ids:

OMIM48 607136
ICD10 via Orphanet27 G11

Related Diseases for Spinocerebellar Ataxia Type 17

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Spinocerebellar Ataxia Type 6 family:

Spinocerebellar Ataxia Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 8
Spinocerebellar Ataxia Type 10 Spinocerebellar Ataxia Type 11
Spinocerebellar Ataxia Type 12 Spinocerebellar Ataxia Type 13
Spinocerebellar Ataxia Type 14 Spinocerebellar Ataxia Type 15
spinocerebellar ataxia type 17 Spinocerebellar Ataxia Type 20
Spinocerebellar Ataxia Type 28 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia Type 37

Diseases related to Spinocerebellar Ataxia Type 17 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.6TBP, ABT1
2parkinson's disease30.4SLC6A3, PARK7
3huntington's disease30.4SLC6A3, TBP
4dementia30.4SLC6A3, TBP, PARK7
5ataxia11.0
6frontal lobe epilepsy10.3
7focal dystonia10.2
8spinocerebellar ataxia type1710.2
9cerebellar ataxia10.0
10dystonia10.0
11spinocerebellar ataxia type 310.0SLC6A3, TBP
12progressive supranuclear palsy10.0SLC6A3, PARK7
13lewy body dementia10.0PARK7, SLC6A3
14movement disease10.0SLC6A3, PARK7
15amyotrophic lateral sclerosis10.0HSPA5, SLC6A3
16schizophrenia9.9HSPA8, TBP, SLC6A3
17prostate cancer9.9HSPA5, HSPA8, PARK7, TBP
18ischemia9.9SLC6A3, HSPA8, HSPA5
19ipex syndrome9.9HSPA5, HSPA8, TBP, SLC6A3
20malignant glioma9.9SLC6A3, HSPA8, HSPA5
21alzheimer's disease9.9HSPA5, HSPA8, PARK7, TBP, SLC6A3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia Type 17:



Diseases related to spinocerebellar ataxia type 17

Symptoms for Spinocerebellar Ataxia Type 17

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48OMIM
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Symptoms by clinical synopsis from OMIM:

607136

Clinical features from OMIM:

607136

Drugs & Therapeutics for Spinocerebellar Ataxia Type 17

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Spinocerebellar Ataxia Type 17

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 17

Search NIH Clinical Center for Spinocerebellar Ataxia Type 17

Search CenterWatch for Spinocerebellar Ataxia Type 17

Genetic Tests for Spinocerebellar Ataxia Type 17

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23GTR
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Genetic tests related to Spinocerebellar Ataxia Type 17:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1723

Anatomical Context for Spinocerebellar Ataxia Type 17

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34MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 17:

34
Eye

Animal Models for Spinocerebellar Ataxia Type 17 or affiliated genes

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Publications for Spinocerebellar Ataxia Type 17

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53PubMed
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Articles related to Spinocerebellar Ataxia Type 17:

(show all 29)
idTitleAuthorsYear
1
Downregulation of proteins involved in the endoplasmic reticulum stress response and Nrf2-ARE signaling in lymphoblastoid cells of spinocerebellar ataxia type 17. (24413982)
2014
2
A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. (23699518)
2013
3
Automated home cage assessment shows behavioral changes in a transgenic mouse model of spinocerebellar ataxia type 17. (23665119)
2013
4
A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17. (22999214)
2012
5
PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17. (22653791)
2012
6
Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions. (21108634)
2011
7
Genetic analysis of Spinocerebellar ataxia type 17 in Parkinson's disease in Mainland China. (20864379)
2010
8
Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. (20587494)
2010
9
Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis. (19014922)
2009
10
Extrapyramidal signs are a common feature of spinocerebellar ataxia type 17. (19917997)
2009
11
Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17. (19643914)
2009
12
Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. (19380697)
2009
13
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. (18043721)
2008
14
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. (17853080)
2007
15
Sporadic case of spinocerebellar ataxia type 17: treatment observations for managing urinary and psychotic symptoms. (17216650)
2007
16
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). (17846415)
2007
17
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. (17934876)
2007
18
Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. (17033685)
2007
19
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. (17149738)
2007
20
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. (17474109)
2007
21
Spinocerebellar ataxia type 17 in a patient from an Indian kindred. (16972120)
2006
22
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. (16037935)
2005
23
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. (15989694)
2005
24
Spinocerebellar ataxia type 17 in the Yugoslav population. (14763955)
2004
25
Spinocerebellar ataxia type 17: latest member of polyglutamine disease group highlights unanswered questions. (14967764)
2004
26
Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia. (15236416)
2004
27
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. (14967767)
2004
28
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. (14598069)
2003
29
Spinocerebellar Ataxia Type 17 (20301611)
1993

Variations for Spinocerebellar Ataxia Type 17

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Expression for genes affiliated with Spinocerebellar Ataxia Type 17

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type 17

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

Pathways for genes affiliated with Spinocerebellar Ataxia Type 17

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 31KEGG, 54QIAGEN
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Pathways related to Spinocerebellar Ataxia Type 17 according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7TBP, TAF1
29.6SLC6A3, PARK7
39.6PARK7, SLC6A3
4
Show member pathways
9.5KHSRP, HSPA5
5
Show member pathways
9.5KHSRP, HSPA5
6
Show member pathways
9.4HSPA8, HSPA5
7
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway61
9.4HSPA8, HSPA5
8
Show member pathways
9.4HSPA5, HSPA8
99.4HSPA8, HSPA5
109.4HSPA8, HSPA5
11
Show member pathways
9.2SLC6A3, TBP, PARK7
12
Show member pathways
8.6TAF1, TBP, KHSRP, HSPA8
13
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
8.4SLC6A3, KHSRP, PARK7, HSPA8

Compounds for genes affiliated with Spinocerebellar Ataxia Type 17

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Spinocerebellar Ataxia Type 17 according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
16-hydroxydopamine469.8SLC6A3, PARK7
2delta-12-pgj2469.8HSPA5, HSPA8
3cyclopentenone469.8HSPA5, HSPA8
4tbps46 3010.6TBP, ABT1
5rrna469.6TBP, ABT1
6tunicamycin46 6210.6SLC6A3, HSPA5
7cadmium46 2510.5HSPA8, HSPA5
8alpha tocopherol469.5TBP, HSPA8
9levodopa46 1210.5SLC6A3, PARK7
10lithium46 52 25 1212.4HSPA5, HSPA8
11glyceraldehyde 3-phosphate469.4HSPA5, HSPA8, TBP
12rotenone469.4HSPA8, PARK7, SLC6A3
13methionine469.3HSPA5, HSPA8, PARK7
14iron46 2510.3HSPA5, HSPA8, TBP
15hydrogen46 2510.3TBP, HSPA8, HSPA5
16potassium46 25 1211.3HSPA8, KHSRP, TBP
17cisplatin46 52 62 1212.2TBP, HSPA8, HSPA5
18valine469.2HSPA5, HSPA8, SLC6A3
19superoxide46 2510.2HSPA5, HSPA8, PARK7
20polyacrylamide469.0TAF1, TBP, HSPA8, HSPA5
21n-ethylmaleimide46 1210.0SLC6A3, HSPA8
22proline469.0HSPA5, HSPA8, TBP, TAF1
23oligonucleotide469.0TBP, PARK7, HSPA8, HSPA5
24leucine469.0ABT1, HSPA5, TBP
25oxygen46 2510.0TBP, PARK7, HSPA8, HSPA5
26h2o2468.9SLC6A3, PARK7, HSPA8, HSPA5
27lysine468.7TAF1, TBP, PARK7, HSPA8, HSPA5
28glutamine468.6TBP, HSPA8, HSPA5, ABT1
29zinc46 259.6ABT1, HSPA5, HSPA8, TBP
30cysteine468.5HSPA5, HSPA8, PARK7, TBP, SLC6A3
31dopamine46 30 25 1211.5HSPA5, HSPA8, PARK7, TAF1, SLC6A3
32serine468.5SLC6A3, TAF1, TBP, HSPA8, HSPA5
33alanine468.1SLC6A3, TAF1, TBP, HSPA8, ABT1
34tyrosine468.0KHSRP, PARK7, HSPA8, HSPA5, ABT1

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 17

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor TFIID complexGO:0056699.7TAF1, TBP
2melanosomeGO:0424709.1HSPA8, HSPA5
3nucleolusGO:0057308.1TAF1, KHSRP, HSPA8, ABT1
4nucleusGO:0056347.2ABT1, HSPA5, HSPA8, PARK7, KHSRP, TAF1

Biological processes related to Spinocerebellar Ataxia Type 17 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase II promoterGO:0063689.4TAF1, TBP
2cell deathGO:0082199.3SLC6A3, TBP, PARK7
3viral processGO:0160329.1TAF1, TBP, HSPA8
4transcription from RNA polymerase II promoterGO:0063668.8ABT1, TBP, TAF1
5gene expressionGO:0104678.6TAF1, TBP, KHSRP, HSPA8

Molecular functions related to Spinocerebellar Ataxia Type 17 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1unfolded protein bindingGO:0510829.4HSPA8, HSPA5
2protein bindingGO:0055156.6SLC6A3, TAF1, TBP, PARK7, HSPA8, HSPA5

Products for genes affiliated with Spinocerebellar Ataxia Type 17

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 17

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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