HDL4
MCID: SPN077
MIFTS: 44

Spinocerebellar Ataxia Type 17 (HDL4) malady

Neuronal diseases category

Summaries for Spinocerebellar Ataxia Type 17

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46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: Spinocerebellar Ataxia Type 17, also known as spinocerebellar ataxia 17, is related to spinocerebellar ataxia and huntington'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 Alpha-synuclein signaling. The compounds tbps and delta-12-pgj2 have been mentioned in the context of this disorder. Affiliated tissues include eye.

Description from OMIM:46 607136

GeneReviews summary for sca17

Aliases & Classifications for Spinocerebellar Ataxia Type 17

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Sources:
19GeneReviews, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 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 17:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

spinocerebellar ataxia type 17 19 42 48
spinocerebellar ataxia 17 42 22 46 60
sca17 19 44 48
huntington disease-like 4 19 48
hdl4 19 48
sca 17 42


External Ids:

OMIM46 607136
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia Type 17

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Sources:
17GeneCards, 18GeneDecks
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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 29
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35

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

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.4TBP, ABT1
2huntington's disease30.3TBP
3parkinson's disease30.3PARK7, SLC6A3
4dementia30.3PARK7, SLC6A3, TBP
5frontal lobe epilepsy10.2
6spinocerebellar ataxia type 1510.2
7spinocerebellar ataxia type1710.2
8cerebellar ataxia10.1
9huntington disease-like syndrome10.0
10multiple system atrophy10.0SLC6A3
11hepatocellular carcinoma10.0HSPA5
12glioblastoma multiforme10.0SLC6A3
13hepatitis c10.0HSPA5
14amyotrophic lateral sclerosis10.0HSPA5, SLC6A3
15progressive supranuclear palsy10.0PARK7, SLC6A3
16lewy body dementia10.0SLC6A3, PARK7
17spinocerebellar ataxia type 310.0SLC6A3, TBP
18movement disease10.0PARK7, SLC6A3
19breast cancer10.0PARK7, HSPA8, HSPA5
20ischemia10.0SLC6A3, HSPA8, HSPA5
21schizophrenia10.0SLC6A3, TBP, HSPA8
22ipex syndrome10.0HSPA5, HSPA8, TBP, SLC6A3
23alzheimer's disease10.0HSPA5, HSPA8, TBP, SLC6A3, PARK7

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



Diseases related to spinocerebellar ataxia type 17

Clinical Features for Spinocerebellar Ataxia Type 17

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46OMIM
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Clinical features from OMIM:

607136

Clinical synopsis from OMIM:

607136

Drugs & Therapeutics for Spinocerebellar Ataxia Type 17

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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22GTR
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Genetic tests related to Spinocerebellar Ataxia Type 17:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1722

Anatomical Context for Spinocerebellar Ataxia Type 17

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32MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 17:

32
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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50PubMed
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Articles related to Spinocerebellar Ataxia Type 17:

(show all 30)
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
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. (22872568)
2013
3
A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. (23699518)
2013
4
Automated home cage assessment shows behavioral changes in a transgenic mouse model of spinocerebellar ataxia type 17. (23665119)
2013
5
A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17. (22999214)
2012
6
PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17. (22653791)
2012
7
Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions. (21108634)
2011
8
Genetic analysis of Spinocerebellar ataxia type 17 in Parkinson's disease in Mainland China. (20864379)
2010
9
Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. (20587494)
2010
10
Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis. (19014922)
2009
11
Extrapyramidal signs are a common feature of spinocerebellar ataxia type 17. (19917997)
2009
12
Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17. (19643914)
2009
13
Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. (19380697)
2009
14
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. (18043721)
2008
15
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. (17853080)
2007
16
Sporadic case of spinocerebellar ataxia type 17: treatment observations for managing urinary and psychotic symptoms. (17216650)
2007
17
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). (17846415)
2007
18
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. (17934876)
2007
19
Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. (17033685)
2007
20
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. (17149738)
2007
21
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. (17474109)
2007
22
Spinocerebellar ataxia type 17 in a patient from an Indian kindred. (16972120)
2006
23
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. (16037935)
2005
24
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
25
Spinocerebellar ataxia type 17 in the Yugoslav population. (14763955)
2004
26
Spinocerebellar ataxia type 17: latest member of polyglutamine disease group highlights unanswered questions. (14967764)
2004
27
Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia. (15236416)
2004
28
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
29
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. (14598069)
2003
30
Spinocerebellar Ataxia Type 17 (20301611)
1993

Genetic Variations for Spinocerebellar Ataxia Type 17

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Expression for genes affiliated with Spinocerebellar Ataxia Type 17

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1BioGPS, 15Gene 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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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 51QIAGEN
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Pathways related to Spinocerebellar Ataxia Type 17 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TAF1, TBP
29.5SLC6A3, PARK7
39.5PARK7, SLC6A3
4
Regulation of degradation of wt-CFTR
9.4HSPA8, HSPA5
5
CFTR folding and maturation (norm and CF)
9.4HSPA8, HSPA5
69.4HSPA5, HSPA8
79.4HSPA8, HSPA5
8
Hide members
8.3HSPA8, TBP, TAF1, KHSRP
9
Hide members
8.1PARK7, SLC6A3, KHSRP, HSPA8

Compounds for genes affiliated with Spinocerebellar Ataxia Type 17

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Spinocerebellar Ataxia Type 17 according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1tbps44 2810.8ABT1, TBP
2delta-12-pgj2449.7HSPA5, HSPA8
3cyclopentenone449.7HSPA8, HSPA5
4rrna449.7ABT1, TBP
56-hydroxydopamine449.4PARK7, SLC6A3
6glyceraldehyde 3-phosphate449.3TBP, HSPA8, HSPA5
7rotenone449.3PARK7, SLC6A3, HSPA8
8valine449.2HSPA5, HSPA8, SLC6A3
9methionine449.1PARK7, HSPA8, HSPA5
10hydrogen44 2410.1TBP, HSPA8, HSPA5
11polyacrylamide449.0HSPA5, HSPA8, TBP, TAF1
12proline449.0HSPA5, HSPA8, TBP, TAF1
13oligonucleotide448.9HSPA5, HSPA8, TBP, PARK7
14glutamine448.8HSPA5, HSPA8, TBP, ABT1
15h2o2448.8PARK7, SLC6A3, HSPA8, HSPA5
16oxygen44 249.8HSPA5, HSPA8, TBP, PARK7
17iron44 249.8TBP, HSPA8, HSPA5
18zinc44 249.7HSPA5, HSPA8, TBP, ABT1
19potassium44 11 2410.7HSPA8, TBP, KHSRP
20lysine448.6PARK7, TAF1, TBP, HSPA8, HSPA5
21dopamine44 28 11 2411.5HSPA5, HSPA8, TAF1, SLC6A3, PARK7
22cysteine448.4HSPA5, HSPA8, TBP, SLC6A3, PARK7
23alanine448.4HSPA8, TBP, TAF1, ABT1, SLC6A3
24serine448.4HSPA5, HSPA8, TBP, TAF1, SLC6A3
25tyrosine447.8HSPA5, HSPA8, ABT1, KHSRP, PARK7

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 17

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16Gene 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:0056699.8TAF1, TBP

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

idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase II promoterGO:0063689.8TAF1, TBP
2cell deathGO:0082199.3PARK7, SLC6A3, TBP
3transcription from RNA polymerase II promoterGO:0063669.1TBP, TAF1, ABT1
4modulation by virus of host morphology or physiologyGO:0190488.8TAF1, TBP, HSPA8
5gene expressionGO:0104678.3KHSRP, TAF1, TBP, HSPA8

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.2PARK7, SLC6A3, ABT1, TAF1, TBP, HSPA8

Products for genes affiliated with Spinocerebellar Ataxia Type 17

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  • Antibodies

Sources for Spinocerebellar Ataxia Type 17

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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