SCA17
MCID: SPN296
MIFTS: 48

Spinocerebellar Ataxia 17 (SCA17) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Eye diseases, Metabolic diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Spinocerebellar Ataxia 17

Aliases & Descriptions for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 54 50 66 13 69
Spinocerebellar Ataxia Type 17 12 23 50 56 29 14
Sca17 23 56 66 52
Huntington Disease-Like 4 23 56 66
Hdl4 23 56 66
Sca 17 50

Characteristics:

Orphanet epidemiological data:

56
spinocerebellar ataxia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Japan),1-9/1000000 (United Kingdom); Age of onset: All ages;

GeneReviews:

23
spinocerebellar ataxia 17:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


GeneReviews:

23
Penetrance The penetrance of alleles of 41 to 44 repeats is estimated at 50% and the penetrance of alleles of 45 to 48 repeats is estimated at greater than 80% [toyoshima et al 2004]...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607136
Disease Ontology 12 DOID:0050967
Orphanet 56 ORPHA98759
ICD10 via Orphanet 34 G11.8
MedGen 40 C1846707
MeSH 42 D020754

Summaries for Spinocerebellar Ataxia 17

UniProtKB/Swiss-Prot : 66 Spinocerebellar ataxia 17: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

MalaCards based summary : Spinocerebellar Ataxia 17, also known as spinocerebellar ataxia type 17, is related to spinocerebellar ataxia, autosomal recessive 17 and spinocerebellar ataxia type17, and has symptoms including seizures, myoclonus and dystonia. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA-Box Binding Protein). The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

OMIM : 54 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs,... (607136) more...

GeneReviews: NBK1438

Related Diseases for Spinocerebellar Ataxia 17

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5
Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive, 24 Spinocerebellar Ataxia, Autosomal Recessive, 22

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

(show all 24)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 17 11.0
2 spinocerebellar ataxia type17 11.0
3 huntington disease-like syndrome 10.9
4 ataxia 10.4
5 sjogren's syndrome 9.9 JPH3 TBP
6 huntington disease 9.8
7 focal dystonia 9.8
8 dystonia 9.8
9 osteopathia striata with cranial sclerosis 9.8 ATXN3 ATXN7
10 spastic paraplegia 50, autosomal recessive 9.7 ATXN3 ATXN7 CACNA1A
11 hypocalcemia, autosomal dominant 2 9.6 ATXN3 ATXN7 CACNA1A
12 lissencephaly 6, with microcephaly 9.6 ATXN3 ATXN7 CACNA1A
13 acute interstitial pneumonia 9.6 ATXN3 ATXN7 CACNA1A
14 charcot-marie-tooth disease, axonal, type 2l 9.5 ATXN3 ATXN7 CACNA1A TBP
15 spinocerebellar ataxia, autosomal recessive 3 9.5 ATN1 ATXN3 ATXN7 CACNA1A
16 proteus syndrome, somatic 9.5 ATN1 ATXN3 ATXN7 CACNA1A
17 cephalic disorders 9.5 ATXN3 ATXN7 CACNA1A TBP
18 hermansky-pudlak syndrome 3 9.5 ATN1 ATXN3 ATXN7 CACNA1A
19 mucopolysaccharidosis is 9.4 ATN1 ATXN3 HAP1 JPH3 TBP
20 holoprosencephaly 9.4 ATN1 ATXN3 ATXN7 CACNA1A TBP
21 osteoporosis 9.4 ATN1 ATXN3 ATXN7 CACNA1A TBP
22 dipetalonemiasis 9.3 ATN1 ATXN3 ATXN7 CACNA1A TBP
23 epileptic encephalopathy, early infantile, 21 9.2 ATN1 ATXN3 ATXN7 CACNA1A JPH3 TBP
24 ciliary dyskinesia, primary, 18 9.0 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3

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



Diseases related to Spinocerebellar Ataxia 17

Symptoms & Phenotypes for Spinocerebellar Ataxia 17

Symptoms by clinical synopsis from OMIM:

607136

Clinical features from OMIM:

607136

Human phenotypes related to Spinocerebellar Ataxia 17:

32 (show all 32)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 myoclonus 32 HP:0001336
3 dystonia 32 HP:0001332
4 bradykinesia 32 HP:0002067
5 gait ataxia 32 HP:0002066
6 depression 32 HP:0000716
7 dysarthria 32 HP:0001260
8 dysphagia 32 HP:0002015
9 chorea 32 HP:0002072
10 hallucinations 32 HP:0000738
11 limb ataxia 32 HP:0002070
12 dysmetria 32 HP:0001310
13 intention tremor 32 HP:0002080
14 rigidity 32 HP:0002063
15 paranoia 32 HP:0011999
16 apraxia 32 HP:0002186
17 aggressive behavior 32 HP:0000718
18 cerebellar atrophy 32 HP:0001272
19 confusion 32 HP:0001289
20 parkinsonism 32 HP:0001300
21 neuronal loss in central nervous system 32 HP:0002529
22 gliosis 32 HP:0002171
23 urinary incontinence 32 HP:0000020
24 frontal lobe dementia 32 HP:0000727
25 mutism 32 HP:0002300
26 broad-based gait 32 HP:0002136
27 lack of insight 32 HP:0000757
28 diffuse cerebral atrophy 32 HP:0002506
29 gaze-evoked nystagmus 32 HP:0000640
30 positive romberg sign 32 HP:0002403
31 frontal release signs 32 HP:0000743
32 impaired pursuit initiation and maintenance 32 HP:0007668

UMLS symptoms related to Spinocerebellar Ataxia 17:


myoclonus, seizures, bradykinesia, action tremor, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3
2 growth/size/body region MP:0005378 9.63 ATN1 ATXN7 CACNA1A HAP1 JPH3 TBP
3 mortality/aging MP:0010768 9.43 ATN1 ATXN7 CACNA1A HAP1 JPH3 TBP
4 nervous system MP:0003631 9.17 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3

Drugs & Therapeutics for Spinocerebellar Ataxia 17

Drugs for Spinocerebellar Ataxia 17 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
3 Adrenergic Agents Phase 4
4 Adrenergic Agonists Phase 4
5 Adrenergic alpha-2 Receptor Agonists Phase 4
6 Adrenergic alpha-Agonists Phase 4
7 Analgesics Phase 4
8 Antihypertensive Agents Phase 4
9 Autonomic Agents Phase 4
10 Contraceptive Agents Phase 4
11 Estradiol 17 beta-cypionate Phase 4
12 Estradiol 3-benzoate Phase 4
13 Estradiol valerate Phase 4 979-32-8
14 Estrogens Phase 4
15 Hormone Antagonists Phase 4
16 Hormones Phase 4
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
18 insulin Phase 4
19 Insulin, Globin Zinc Phase 4
20 Mitogens Phase 4
21 Neurotransmitter Agents Phase 4
22 Peripheral Nervous System Agents Phase 4
23 Polyestradiol phosphate Phase 4
24 Sympatholytics Phase 4
25 arginine Nutraceutical Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 17

Genetic Tests for Spinocerebellar Ataxia 17

Genetic tests related to Spinocerebellar Ataxia 17:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 17 29

Anatomical Context for Spinocerebellar Ataxia 17

MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

39
Eye, Spinal Cord, Cerebellum, Brain

Publications for Spinocerebellar Ataxia 17

Articles related to Spinocerebellar Ataxia 17:

(show all 14)
id Title Authors Year
1
Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. ( 28032013 )
2016
2
From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. ( 25349749 )
2014
3
Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings. ( 24339615 )
2013
4
Regulation of BACE1 by miR-29a/b in a cellular model of Spinocerebellar Ataxia 17. ( 22664922 )
2012
5
Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). ( 22659444 )
2012
6
CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. ( 21311576 )
2011
7
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. ( 20016963 )
2010
8
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). ( 18418687 )
2008
9
Difficulty identifying spinocerebellar ataxia 17 from preceding psychiatric symptoms. ( 18950389 )
2008
10
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). ( 16760196 )
2006
11
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. ( 16532453 )
2006
12
Electrophysiologic characterization in spinocerebellar ataxia 17. ( 16567717 )
2006
13
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. ( 16223509 )
2005
14
Focal dystonia as a presenting sign of spinocerebellar ataxia 17. ( 14978680 )
2004

Variations for Spinocerebellar Ataxia 17

ClinVar genetic disease variations for Spinocerebellar Ataxia 17:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBP NM_003194.4(TBP): c.172_174CAG(25_42) (p.Gln95(25_42)) NT expansion Pathogenic,risk factor rs193922935 GRCh37 Chromosome 6, 170870996: 170870998

Expression for Spinocerebellar Ataxia 17

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

Pathways for Spinocerebellar Ataxia 17

GO Terms for Spinocerebellar Ataxia 17

Cellular components related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 8.8 ATN1 ATXN3 ATXN7

Biological processes related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.16 ATXN3 ATXN7
2 neuromuscular process controlling balance GO:0050885 8.96 CACNA1A JPH3
3 chemical synaptic transmission GO:0007268 8.8 ATXN3 CACNA1A HAP1

Molecular functions related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.62 ATXN3 ATXN7

Sources for Spinocerebellar Ataxia 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....