HDL4
MCID: SPN077
MIFTS: 54

Spinocerebellar Ataxia Type 17 (HDL4) malady

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

Summaries for Spinocerebellar Ataxia Type 17

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OMIM:46 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs,... (607136) more...

MalaCards based summary: Spinocerebellar Ataxia Type 17, also known as spinocerebellar ataxia 17, is related to spinocerebellar ataxia and parkinson's disease, and has symptoms including autosomal dominant inheritance, urinary incontinence and gaze-evoked nystagmus. 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.

GeneReviews summary for sca17

Aliases & Classifications for Spinocerebellar Ataxia Type 17

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Sources:
20GeneReviews, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 23GTR, 46OMIM, 61UMLS, 27ICD10 via Orphanet
See all sources

Spinocerebellar Ataxia Type 17, Aliases & Descriptions:

Name: Spinocerebellar Ataxia Type 17 20 42 48
Spinocerebellar Ataxia 17 42 23 46 61
Sca17 20 44 48
 
Huntington Disease-Like 4 20 48
Hdl4 20 48
Sca 17 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
spinocerebellar ataxia type 17:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 607136
ICD10 via Orphanet27 G11

Related Diseases for Spinocerebellar Ataxia Type 17

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Diseases in the Spinocerebellar Ataxia Autosomal Recessive 1 family:

Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 6 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 Type 36 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 9
Spinocerebellar Ataxia Autosomal Recessive 3 Spinocerebellar Ataxia Autosomal Recessive 4
Spinocerebellar Ataxia Autosomal Recessive 5 Spinocerebellar Ataxia Autosomal Recessive 6
Spinocerebellar Ataxia Autosomal Recessive 7 Spinocerebellar Ataxia Autosomal Recessive 8
Spinocerebellar Ataxia, Autosomal Recessive, 9 Spinocerebellar Ataxia, Autosomal Recessive, 10
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 35

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 ataxia31.9TBP, ABT1
2parkinson's disease30.5SLC6A3, PARK7
3huntington's disease30.4SLC6A3, TBP
4dementia30.3SLC6A3, TBP, PARK7
5ataxia11.0
6frontal lobe epilepsy10.3
7focal dystonia10.2
8huntington disease-like syndrome10.1
9machado-joseph disease10.1SLC6A3, TBP
10cerebellar ataxia10.0
11dystonia10.0
12progressive supranuclear palsy10.0SLC6A3, PARK7
13lewy body dementia10.0PARK7, SLC6A3
14movement disease10.0SLC6A3, PARK7
15amyotrophic lateral sclerosis type 149.9HSPA5, SLC6A3
16schizophrenia9.7HSPA8, TBP, SLC6A3
17prostate cancer9.6HSPA5, HSPA8, PARK7, TBP
18ischemia9.6SLC6A3, HSPA8, HSPA5
19ipex syndrome9.6HSPA5, HSPA8, TBP, SLC6A3
20malignant glioma9.5SLC6A3, HSPA8, HSPA5
21alzheimer's disease9.4HSPA5, 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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Symptoms by clinical synopsis from OMIM:

607136

Clinical features from OMIM:

607136

HPO human phenotypes related to Spinocerebellar Ataxia Type 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 Type 17

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 17

Search NIH Clinical Center for Spinocerebellar Ataxia Type 17

Genetic Tests for Spinocerebellar Ataxia Type 17

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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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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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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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Clinvar genetic disease variations for Spinocerebellar Ataxia Type 17:

7
id Gene Name 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 Type 17

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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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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 Pathway59
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 Degradation37
Immune response Antigen presentation by MHC class I59
8.4SLC6A3, KHSRP, PARK7, HSPA8

Compounds for genes affiliated with Spinocerebellar Ataxia Type 17

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Compounds related to Spinocerebellar Ataxia Type 17 according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
16-hydroxydopamine449.8SLC6A3, PARK7
2delta-12-pgj2449.8HSPA5, HSPA8
3cyclopentenone449.8HSPA5, HSPA8
4tbps44 2910.6TBP, ABT1
5rrna449.6TBP, ABT1
6tunicamycin44 6010.6SLC6A3, HSPA5
7cadmium44 2510.5HSPA8, HSPA5
8alpha tocopherol449.5TBP, HSPA8
9levodopa44 1210.5SLC6A3, PARK7
10lithium44 50 25 1212.4HSPA5, HSPA8
11glyceraldehyde 3-phosphate449.4HSPA5, HSPA8, TBP
12rotenone449.4HSPA8, PARK7, SLC6A3
13methionine449.3HSPA5, HSPA8, PARK7
14iron44 2510.3HSPA5, HSPA8, TBP
15hydrogen44 2510.3TBP, HSPA8, HSPA5
16potassium44 25 1211.3HSPA8, KHSRP, TBP
17cisplatin44 50 60 1212.2TBP, HSPA8, HSPA5
18valine449.2HSPA5, HSPA8, SLC6A3
19superoxide44 2510.2HSPA5, HSPA8, PARK7
20polyacrylamide449.0TAF1, TBP, HSPA8, HSPA5
21n-ethylmaleimide44 1210.0SLC6A3, HSPA8
22proline449.0HSPA5, HSPA8, TBP, TAF1
23oligonucleotide449.0TBP, PARK7, HSPA8, HSPA5
24leucine449.0ABT1, HSPA5, TBP
25oxygen44 2510.0TBP, PARK7, HSPA8, HSPA5
26h2o2448.9SLC6A3, PARK7, HSPA8, HSPA5
27lysine448.7TAF1, TBP, PARK7, HSPA8, HSPA5
28glutamine448.6TBP, HSPA8, HSPA5, ABT1
29zinc44 259.6ABT1, HSPA5, HSPA8, TBP
30cysteine448.5HSPA5, HSPA8, PARK7, TBP, SLC6A3
31dopamine44 29 25 1211.5HSPA5, HSPA8, PARK7, TAF1, SLC6A3
32serine448.5SLC6A3, TAF1, TBP, HSPA8, HSPA5
33alanine448.1SLC6A3, TAF1, TBP, HSPA8, ABT1
34tyrosine448.0KHSRP, PARK7, HSPA8, HSPA5, ABT1

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 17

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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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Sources for Spinocerebellar Ataxia Type 17

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet