Spinocerebellar Ataxia Type 17 malady

MalaCards: Spinocerebellar Ataxia Type 17, also known as spinocerebellar ataxia 17, is related to ataxia and spinocerebellar ataxia type 3. An important gene associated with Spinocerebellar Ataxia Type 17 is TBP (TATA box binding protein), and among its related pathways are Assembly of RNA Polymerase-II Initiation Complex and Transcription of mRNA. The drugs perphenazine and coenzyme q10 and the compounds alanine and 6-hydroxydopamine have been mentioned in the context of this disorder.

OMIM: 607136

spinocerebellar ataxia type 17 15 30 spinocerebellar ataxia 17 30 33 43 sca17 15 32 huntington disease-like 4 15

huntington disease 43 sca 17 30 hdl4 15

Disease types for spinocerebellar ataxia family:

spinocerebellar ataxia type 3	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 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

Diseases related to spinocerebellar ataxia type 17 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 234)

id	Related Disease	Score	Top Affiliating Genes
1	ataxia	35.9	SLC6A3, TAF1, TBP, HSPA8, HSPA5, PARK7
2	spinocerebellar ataxia type 3	35.6	TBP, SLC6A3
3	parkinson's disease	30.9	PARK7, TBP
4	olivopontocerebellar atrophy	30.8	SLC6A3, TAF1, TBP, HSPA8, HSPA5, PARK7
5	neurodegeneration	30.8	SLC6A3, TBP, HSPA8, PARK7, KHSRP
6	restless legs syndrome	28.9	TBP, SLC6A3
7	dementia	28.8	SLC6A3, TBP, HSPA8, PARK7
8	huntington's disease	28.7	SLC6A3, TAF1, TBP, HSPA8
9	neuronitis	28.6	SLC6A3, TAF1, TBP, HSPA8, HSPA5, PARK7
10	schizophrenia	27.7	SLC6A3, TBP, HSPA8, HSPA5, PARK7
11	multiple system atrophy	24.7	SLC6A3, TBP, HSPA8, PARK7
12	alzheimer's disease	24.5	SLC6A3, TBP, HSPA8, HSPA5, PARK7, KHSRP
13	ischemia	23.7	SLC6A3, HSPA8, HSPA5, PARK7, KHSRP
14	neuroblastoma	23.6	SLC6A3, HSPA8, HSPA5, PARK7, KHSRP
15	cerebritis	23.0	SLC6A3, TAF1, TBP, HSPA8, HSPA5, PARK7
16	prostatitis	22.7	SLC6A3, TBP, HSPA8, HSPA5, PARK7, KHSRP
17	breast cancer	22.4	SLC6A3, TAF1, TBP, HSPA8, HSPA5, PARK7
18	spinocerebellar ataxia	13.8
19	progressive supranuclear palsy	12.8	PARK7, SLC6A3
20	lewy body dementia	12.8	PARK7, SLC6A3
21	movement disease	12.7	PARK7, SLC6A3
22	cholesterol	12.7
23	borna disease	12.3	HSPA5, HSPA8
24	central pontine myelinolysis	12.1	HSPA8, SLC6A3
25	spinocerebellar ataxia type 6	11.8
26	neurodegenerative disease	11.7	PARK7, HSPA8, TBP, SLC6A3
27	amyotrophic lateral sclerosis	11.4	SLC6A3, HSPA8, HSPA5, PARK7
28	lateral sclerosis	11.4	SLC6A3, HSPA8, HSPA5, PARK7
29	glioblastoma	11.0	SLC6A3, HSPA8, HSPA5, PARK7
30	hepatocellular carcinoma	10.9	TBP, HSPA8, HSPA5, PARK7, KHSRP
31	hepatitis c	10.8	HSPA5, HSPA8, TBP, SLC6A3
32	immunodeficiency	10.8	SLC6A3, TAF1, TBP, HSPA8, HSPA5
33	spinocerebellar ataxia type 7	10.8
34	spinocerebellar ataxia type 10	10.5
35	spinocerebellar ataxia type 14	10.4
36	spinocerebellar ataxia type10	10.4
37	spinocerebellar ataxia type14	10.3
38	spinocerebellar ataxia type17	10.3
39	hepatitis	10.3
40	spinocerebellar ataxia type 8	9.9
41	atherosclerosis	9.6
42	coronary heart disease	9.2
43	spinocerebellar ataxia type 11	9.2
44	spinocerebellar ataxia type 12	9.2
45	spinocerebellar ataxia type 15	9.2
46	spinocerebellar ataxia type 20	9.2
47	spinocerebellar ataxia type11	9.0
48	spinocerebellar ataxia type12	9.0
49	spinocerebellar ataxia type15	9.0
50	spinocerebellar ataxia type20	9.0

Clinical features from OMIM: 607136

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 baclofen, coenzyme q10, perphenazine, pimozide

Articles related to spinocerebellar ataxia type 17:

(show all 14)

id	Title	Authors	Year	Affiliating Genes
1	Spinocerebellar ataxia type 17 associated with an exp ansion of 42 glutamine residues in TATA-box binding protein gene. (20587494)	Nolte D.... MA1ller U.	2010	TAF1
2	Genetic analysis of Spinocerebellar ataxia type 17 in Parkinson's disease in Mainland China. (20864379)	Xu Q.... Tang B.	2010	TBP
3	Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. (19380697)	Kim J.Y.... Jeon B.S.	2009	TBP, SLC6A3
4	Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis. (19014922)	Lee L.C.... Lin J.Y.	2009	HSPA8, TBP, HSPA5
5	Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. (17033685)	Tomiuk J.... Bauer P.	2007	TBP
6	Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). (17846415)	Hubner J.... Helmchen C.	2007	TBP
7	Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. (17934876)	Mariotti C.... Di Donato S.	2007	TBP
8	Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. (17149738)	Nanda A.... Metzer W.S.	2007	TBP
9	Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. (17474109)	Rasmussen A.... Bidichandani S.I.	2007	TBP
10	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)	ZA1hlke C.... Finckh U.	2005	TBP
11	Spinocerebellar ataxia type 17 in the Yugoslav population. (14763955)	Alendar A.... Romac S.	2004	TBP
12	Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. (14967767)	Oda M.... Kawakami H.	2004	TBP
13	Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. (14598069)	De Michele G.... Bruni A.	2003	TBP
14	Spinocerebellar Ataxia Type 17 (20301611)	Toyoshima Y.... Takahashi H.	1993	TBP

Genes related to spinocerebellar ataxia type 17 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TBP	TATA box binding protein	11.0	Publications
2	KHSRP	KH-type splicing regulatory protein	11.0	Publications
3	TAF1	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	11.0	Publications
4	PARK7	parkinson protein 7	11.0	Publications
5	HSPA8	heat shock 70kDa protein 8	11.0	Publications
6	HSPA5	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	11.0	Publications
7	SLC6A3	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	11.0	Publications

Pathways related to spinocerebellar ataxia type 17 according to GeneDecks:

(show all 16)

id	Pathway	Score	Top Affiliating Genes
1	Assembly of RNA Polymerase-II Initiation Complex36	9.9	TAF1, TBP
2	Transcription of mRNA36	9.8	TBP, TAF1
3	Protein Acetylation and Deacetylation36	9.8	TAF1, TBP
4	Basal transcription factors20	9.8	TAF1, TBP
5	Parkinsons Disease Pathway36	9.5	PARK7, SLC6A3
6	Crosstalk Between CARM1 and ESRs36	9.3	TBP, TAF1
7	CFTR folding and maturation (norm and CF)41	9.3	HSPA8, HSPA5
8	Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)41	9.3	HSPA8, HSPA5
9	Proteolysis Putative ubiquitin pathway10	9.3	HSPA8, HSPA5
10	Proteolysis_Putative ubiquitin pathway41	9.3	HSPA8, HSPA5
11	Gene Expression38	9.3	KHSRP, TAF1, HSPA8
12	Development_Glucocorticoid receptor signaling41	9.3	HSPA5, HSPA8
13	Development Glucocorticoid receptor signaling10	9.2	HSPA5, HSPA8
14	Regulation of degradation of deltaF508 CFTR in CF41	9.0	HSPA8, HSPA5
15	Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway41	9.0	HSPA5, HSPA8
16	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway10	8.9	HSPA5, HSPA8

Compounds related to spinocerebellar ataxia type 17 according to GeneDecks:

(show all 23)

id	Compound	Score	Top Affiliating Genes
1	alanine32	10.3	TBP
2	6-hydroxydopamine32	9.5	SLC6A3, PARK7
3	delta-12-pgj232	9.3	HSPA5, HSPA8
4	cyclopentenone32	9.3	HSPA8, HSPA5
5	potassium32 9 18 9	12.2	KHSRP, HSPA8, TBP
6	rotenone32	9.1	SLC6A3, HSPA8, PARK7
7	lithium32 34 9 18 9	13.0	HSPA8, HSPA5
8	glyceraldehyde 3-phosphate32	8.9	HSPA5, HSPA8, TBP
9	valine32	8.8	HSPA5, SLC6A3, HSPA8
10	glutamine32	8.7	HSPA5, TBP, HSPA8
11	methionine32	8.7	PARK7, HSPA5, HSPA8
12	iron32 18	9.7	HSPA5, TBP, HSPA8
13	hydrogen32 18	9.6	TBP, HSPA8, HSPA5
14	polyacrylamide32	8.5	TAF1, HSPA5, TBP, HSPA8
15	proline32	8.5	HSPA8, TBP, TAF1, HSPA5
16	oligonucleotide32	8.4	PARK7, HSPA5, HSPA8, TBP
17	cisplatin32 34 9 9	11.4	TBP, HSPA5, HSPA8
18	oxygen32 18	9.3	HSPA8, PARK7, TBP, HSPA5
19	h2o232	8.3	PARK7, SLC6A3, HSPA8, HSPA5
20	lysine32	8.0	TAF1, TBP, HSPA8, HSPA5, PARK7
21	cysteine32	7.9	PARK7, HSPA5, HSPA8, TBP, SLC6A3
22	serine32	7.9	TBP, SLC6A3, HSPA5, HSPA8, TAF1
23	dopamine32 9 18 9	10.9	HSPA5, SLC6A3, TAF1, HSPA8, PARK7

Cellular components related to spinocerebellar ataxia type 17 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor TFIID complex	GO:005669	9.6	TBP, TAF1

Biological processes related to spinocerebellar ataxia type 17 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription elongation from RNA polymerase II promoter	GO:006368	9.6	TAF1, TBP
2	cell death	GO:008219	9.1	PARK7, TBP, SLC6A3
3	virus-host interaction	GO:019048	8.7	TBP, HSPA8, TAF1
4	gene expression	GO:010467	8.5	HSPA8, KHSRP, TBP, TAF1