HDL4
MCID: SPN077
MIFTS: 33

Spinocerebellar Ataxia Type 17 (HDL4) malady

Neuronal category

Summaries for Spinocerebellar Ataxia Type 17

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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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.

Description from OMIM:47 607136

GeneReviews summary for sca17

Aliases & Classifications for Spinocerebellar Ataxia Type 17

Sources:
19GeneReviews, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
spinocerebellar ataxia type 17:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

spinocerebellar ataxia type 17 19 43 49
spinocerebellar ataxia 17 43 22 47 61
sca17 19 45 49
huntington disease-like 4 19 49
hdl4 19 49
sca 17 43


External Ids:

OMIM47 607136
ICD10 via Orphanet26 G11

Related Diseases for Spinocerebellar Ataxia Type 17

Sources:
17GeneCards, 18GeneDecks
See all sources

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 with axonal neuropathy, autosomal recessive
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 with dysmorphism spinocerebellar ataxia 32
spinocerebellar ataxia 36 spinocerebellar ataxia 35
spinocerebellar ataxia with altered vertical eye movements

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

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.5ABT1, TBP
2huntington's disease30.4TBP
3parkinson's disease30.4PARK7, SLC6A3
4ataxia11.0
5frontal lobe epilepsy10.3
6epilepsy, nocturnal, frontal lobe type10.3
7focal dystonia10.2
8spinocerebellar ataxia type1710.2
9huntington disease-like syndrome10.0
10spinocerebellar atrophy10.0
11multiple system atrophy10.0SLC6A3
12hepatocellular carcinoma10.0HSPA5
13glioblastoma multiforme10.0SLC6A3
14hepatitis c10.0HSPA5
15amyotrophic lateral sclerosis10.0SLC6A3, HSPA5
16progressive supranuclear palsy10.0PARK7, SLC6A3
17lewy body dementia10.0PARK7, SLC6A3
18spinocerebellar ataxia type 310.0TBP, SLC6A3
19movement disease10.0SLC6A3, PARK7
20dementia10.0TBP, SLC6A3, PARK7
21breast cancer10.0HSPA5, HSPA8, PARK7
22ischemia10.0SLC6A3, HSPA5, HSPA8
23schizophrenia10.0TBP, SLC6A3, HSPA8
24ipex syndrome10.0HSPA5, TBP, SLC6A3, HSPA8
25alzheimer's disease10.0SLC6A3, HSPA8, HSPA5, TBP, 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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607136

Clinical synopsis from OMIM:

607136

Drugs & Therapeutics for Spinocerebellar Ataxia Type 17

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Spinocerebellar Ataxia Type 17:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1722

Anatomical Context for Spinocerebellar Ataxia Type 17

Animal Models for Spinocerebellar Ataxia Type 17 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Spinocerebellar Ataxia Type 17

Genetic Variations for Spinocerebellar Ataxia Type 17

Expression for genes affiliated with Spinocerebellar Ataxia Type 17

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 52QIAGEN
See all sources

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

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank
See all sources

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

(show all 25)
idCompoundScoreTop Affiliating Genes
1tbps45 2910.8ABT1, TBP
2delta-12-pgj2459.7HSPA5, HSPA8
3cyclopentenone459.7HSPA8, HSPA5
4rrna459.7ABT1, TBP
56-hydroxydopamine459.4PARK7, SLC6A3
6glyceraldehyde 3-phosphate459.3TBP, HSPA8, HSPA5
7rotenone459.3PARK7, SLC6A3, HSPA8
8valine459.2HSPA5, HSPA8, SLC6A3
9methionine459.1PARK7, HSPA8, HSPA5
10hydrogen45 2410.1TBP, HSPA8, HSPA5
11polyacrylamide459.0HSPA5, HSPA8, TBP, TAF1
12proline459.0HSPA5, HSPA8, TBP, TAF1
13oligonucleotide458.9HSPA5, HSPA8, TBP, PARK7
14glutamine458.8HSPA5, HSPA8, TBP, ABT1
15h2o2458.8PARK7, SLC6A3, HSPA8, HSPA5
16oxygen45 249.8HSPA5, HSPA8, TBP, PARK7
17iron45 249.8TBP, HSPA8, HSPA5
18zinc45 249.7HSPA5, HSPA8, TBP, ABT1
19potassium45 11 2410.7HSPA8, TBP, KHSRP
20lysine458.6PARK7, TAF1, TBP, HSPA8, HSPA5
21dopamine45 29 11 2411.5HSPA5, HSPA8, TAF1, SLC6A3, PARK7
22cysteine458.4HSPA5, HSPA8, TBP, SLC6A3, PARK7
23alanine458.4HSPA8, TBP, TAF1, ABT1, SLC6A3
24serine458.4HSPA5, HSPA8, TBP, TAF1, SLC6A3
25tyrosine457.8HSPA5, HSPA8, ABT1, KHSRP, PARK7

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 17

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 17

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet