MCID: SPN296
MIFTS: 48

Spinocerebellar Ataxia 17 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 17

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Aliases & Descriptions for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 52 48 70 12 68
Spinocerebellar Ataxia Type 17 11 23 48 54 27 13
Sca17 23 54 70 50
 
Huntington Disease-Like 4 23 54 70
Hdl4 23 54 70
Sca 17 48

Characteristics:

Orphanet epidemiological data:

54
spinocerebellar ataxia type 17:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Japan),1-9/1000000 (United Kingdom); Age of onset: All ages

HPO:

64
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:



External Ids:

OMIM52 607136
Disease Ontology11 DOID:0050967
Orphanet54 ORPHA98759
ICD10 via Orphanet31 G11.8
MedGen37 C1846707
MeSH39 D020754

Summaries for Spinocerebellar Ataxia 17

About this section
UniProtKB/Swiss-Prot:70 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 urinary incontinence, gaze-evoked nystagmus and depression. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA-Box Binding Protein). Affiliated tissues include cerebellum, eye and spinal cord, and related mouse phenotypes are growth/size/body region and mortality/aging.

OMIM:52 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs,... (607136) more...

GeneReviews for NBK1438

Related Diseases for Spinocerebellar Ataxia 17

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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, 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 26)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia, autosomal recessive 1711.0
2spinocerebellar ataxia type1711.0
3huntington disease-like syndrome10.9
4ataxia10.4
5huntington disease9.8
6focal dystonia9.8
7dystonia9.8
8rigidity and multifocal seizure syndrome, lethal neonatal9.8HAP1, JPH3, TBP
9schistosoma mansoni infection, susceptibility/9.5ATXN3, CACNA1A
10chronic intestinal vascular insufficiency9.5ATXN3, CACNA1A
11miller fisher syndrome9.4ATXN3, JPH3, TBP
12osteopathia striata with cranial sclerosis9.4ATXN3, ATXN7
13angiomyolipoma9.3ATXN3, CACNA1A
14mednik syndrome9.2ATXN3, ATXN7, CACNA1A
15hereditary spastic paraplegia9.2ATXN3, ATXN7, CACNA1A
16hypocalcemia, autosomal dominant 29.2ATXN3, ATXN7, CACNA1A
17celiac disease 139.1ATXN3, ATXN7, CACNA1A
18lissencephaly 6, with microcephaly9.1ATXN3, ATXN7, CACNA1A
19necatoriasis9.0ATXN3, ATXN7, CACNA1A, TBP
20tremor, hereditary essential, 38.8ATN1, ATXN3, ATXN7, CACNA1A
21atrial fibrillation and stroke8.8ATXN3, ATXN7, CACNA1A, TBP
22mental retardation, autosomal recessive 328.8ATN1, ATXN3, ATXN7, CACNA1A
23bruck syndrome 28.8ATN1, ATXN3, ATXN7, CACNA1A
24mucopolysaccharidosis ih8.7ATN1, ATXN3, HAP1, JPH3, TBP
25dracunculiasis8.5ATN1, ATXN3, ATXN7, CACNA1A, TBP
26okt4 epitope deficiency8.1ATN1, ATXN3, ATXN7, CACNA1A, JPH3, TBP

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



Diseases related to spinocerebellar ataxia 17

Symptoms & Phenotypes for Spinocerebellar Ataxia 17

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Symptoms by clinical synopsis from OMIM:

607136

Clinical features from OMIM:

607136

Human phenotypes related to Spinocerebellar Ataxia 17:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 urinary incontinence64 HP:0000020
2 gaze-evoked nystagmus64 HP:0000640
3 depression64 HP:0000716
4 aggressive behavior64 HP:0000718
5 frontal lobe dementia64 HP:0000727
6 hallucinations64 HP:0000738
7 frontal release signs64 HP:0000743
8 lack of insight64 HP:0000757
9 seizures64 HP:0001250
10 dysarthria64 HP:0001260
11 cerebellar atrophy64 HP:0001272
12 confusion64 HP:0001289
13 parkinsonism64 HP:0001300
14 dysmetria64 HP:0001310
15 dystonia64 HP:0001332
16 myoclonus64 HP:0001336
17 dysphagia64 HP:0002015
18 rigidity64 HP:0002063
19 gait ataxia64 HP:0002066
20 bradykinesia64 HP:0002067
21 limb ataxia64 HP:0002070
22 chorea64 HP:0002072
23 intention tremor64 HP:0002080
24 broad-based gait64 HP:0002136
25 gliosis64 HP:0002171
26 apraxia64 HP:0002186
27 mutism64 HP:0002300
28 positive romberg sign64 HP:0002403
29 diffuse cerebral atrophy64 HP:0002506
30 neuronal loss in central nervous system64 HP:0002529
31 impaired pursuit initiation and maintenance64 HP:0007668
32 paranoia64 HP:0011999

UMLS symptoms related to Spinocerebellar Ataxia 17:


myoclonus, seizures, bradykinesia, action tremor, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.2ATN1, ATXN7, CACNA1A, HAP1, JPH3, TBP
2MP:00107688.1ATN1, ATXN7, CACNA1A, HAP1, JPH3, TBP
3MP:00053867.6ATN1, ATXN3, ATXN7, CACNA1A, HAP1, JPH3
4MP:00036316.7ATN1, ATXN3, ATXN7, CACNA1A, HAP1, JPH3

Drugs & Therapeutics for Spinocerebellar Ataxia 17

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

(show all 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigational, vet_approvedPhase 4128350-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
2
ClonidineapprovedPhase 42264205-90-72803
Synonyms:
1H-Imidazol-2-amine, N-(2,6-dichlorophenyl)-4,5-dihydro- (9CI)
2,6-Dichloro-N-2-imidazolidinylidenebenzenamine
2,6-dichloro-N-(2-imidazolidinylidene)aniline
2,6-dichloro-N-2-imidazolidinylidenebenzenamide
2,6-dichloro-N-imidazolidin-2-ylideneaniline
2-((2,6-Dichlorophenyl)imino)imidazolidine
2-(2,6-Dichloroanilino)-1,3-diazacyclopentene-(2)
2-(2,6-Dichloroanilino)-2-imidazoline
2-(2,6-Dichlorophenylamino)-2-imidazoline
2-(2,6-Dichlorophenylimino)imidazolidine
2-Imidazoline, 2-(2,6-dichloroanilino)- (7CI,8CI)
2-[(2,6-Dichlorophenyl)imino]imidazoline
2-[(2,6-dichlorophenyl)imino]-2-imidazoline
4205-90-7
4205-91-8 (mono-hydrochloride)
57066-25-8
734571A
AB00514634
AC1L1EI5
AC1Q3K6V
AKOS001595470
Adesipress
BIDD:GT0547
BPBio1_000040
BRD-K98530306-001-02-1
BRD-K98530306-003-05-0
BSPBio_000036
BSPBio_001588
BSPBio_002055
Bio1_000470
Bio1_000959
Bio1_001448
Bio2_000308
Bio2_000788
C9H9Cl2N3
CAS-4205-91-8
CATAPRES-TTS-1
CATAPRES-TTS-2
CATAPRES-TTS-3
CCRIS 7787
CHEBI:3757
CHEBI:46632
CHEMBL134
CID2803
Catapres
Catapres- TTS
Catapres-TTS
Catapresan
Catapressan
Catarpres
Catarpres-TTS
Catarpres-TTS (TN)
Catarpresan
Chlofazoline
Chlornidinum
Clofenil
Clonidin
Clonidina
Clonidina [INN-Spanish]
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine [USAN:BAN:INN]
Clonidinhydrochlorid
Clonidinum
Clonidinum [INN-Latin]
Clonistada
Clopheline
D00281
DB00575
DB07566
DivK1c_000774
 
Dixarit
Duraclon
Duraclont
EINECS 224-119-4
Gemiton
HMS1361P10
HMS1791P10
HMS1989P10
HMS2089G11
HSDB 3040
Hemiton
IDI1_000774
IDI1_034058
Ipotensium
Isoglaucon
KBio1_000774
KBio2_000308
KBio2_001821
KBio2_002876
KBio2_004389
KBio2_005444
KBio2_006957
KBio3_000615
KBio3_000616
KBio3_001275
KBioGR_000308
KBioGR_001572
KBioSS_000308
KBioSS_001821
Klofelin
Klofenil
L000193
LS-79606
Lopac-C-7897
Lopac0_000268
M 5041T
M-5041T
MolPort-001-779-668
MolPort-005-932-374
N-(2,6-Dichlorophenyl)-4,5-dihydro-1H-imidazol-2-amine
NCGC00015268-01
NCGC00015268-02
NCGC00015268-08
NCGC00024734-01
NCGC00024734-02
NCGC00024734-03
NCGC00024734-04
NCGC00024734-05
NCGC00179680-01
NINDS_000774
Prestwick0_000248
Prestwick1_000248
Prestwick2_000248
Prestwick3_000248
SKF 34427
SPBio_001233
SPBio_002255
ST 155BS
ST-155-BS
ST-155BS
Spectrum2_001187
Spectrum3_000358
Spectrum4_000956
Spectrum5_000759
Spectrum_001341
T171
Tenso-Timelets
Tocris-0690
UNII-MN3L5RMN02
ZINC00896484
clonidine
nchembio.79-comp11
nchembio705-10
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
4HormonesPhase 413979
5Hormone AntagonistsPhase 412778
6insulinPhase 44524
7Insulin, Globin ZincPhase 44523
8Polyestradiol phosphatePhase 41283
9SympatholyticsPhase 4555
10Peripheral Nervous System AgentsPhase 422776
11Neurotransmitter AgentsPhase 417734
12MitogensPhase 41526
13EstrogensPhase 42470
14Estradiol 3-benzoatePhase 41283
15Antihypertensive AgentsPhase 44095
16AnalgesicsPhase 411287
17Adrenergic alpha-AgonistsPhase 41625
18Adrenergic alpha-2 Receptor AgonistsPhase 4911
19Estradiol valeratePhase 41283979-32-8
20Autonomic AgentsPhase 49774
21Adrenergic AgentsPhase 45140
22Estradiol 17 beta-cypionatePhase 41283
23Contraceptive AgentsPhase 41901
24Adrenergic AgonistsPhase 42877
25arginineNutraceuticalPhase 4408

Interventional clinical trials:

idNameStatusNCT IDPhase
1Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)Unknown statusNCT01052623Phase 4
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 17

Genetic Tests for Spinocerebellar Ataxia 17

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Genetic tests related to Spinocerebellar Ataxia 17:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1727

Anatomical Context for Spinocerebellar Ataxia 17

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MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

36
Cerebellum, Eye, Spinal cord, Brain

Publications for Spinocerebellar Ataxia 17

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Articles related to Spinocerebellar Ataxia 17:

(show all 14)
idTitleAuthorsYear
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
Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). (22659444)
2012
5
Regulation of BACE1 by miR-29a/b in a cellular model of Spinocerebellar Ataxia 17. (22664922)
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
Difficulty identifying spinocerebellar ataxia 17 from preceding psychiatric symptoms. (18950389)
2008
9
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). (18418687)
2008
10
Electrophysiologic characterization in spinocerebellar ataxia 17. (16567717)
2006
11
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). (16760196)
2006
12
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. (16532453)
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

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Clinvar genetic disease variations for Spinocerebellar Ataxia 17:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBPNM_003194.4(TBP): c.172_174CAG(25_42) (p.Gln95(25_42))NT expansionPathogenic, risk factorrs193922935GRCh37Chr 6, 170870996: 170870998

Expression for genes affiliated with Spinocerebellar Ataxia 17

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

Pathways for genes affiliated with Spinocerebellar Ataxia 17

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GO Terms for genes affiliated with Spinocerebellar Ataxia 17

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

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:00163638.9ATN1, ATXN3, ATXN7

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

idNameGO IDScoreTop Affiliating Genes
1exploration behaviorGO:003564010.0ATXN3, JPH3
2microtubule cytoskeleton organizationGO:00002269.8ATXN3, ATXN7
3neuromuscular process controlling balanceGO:00508859.5CACNA1A, JPH3
4chemical synaptic transmissionGO:00072689.1ATXN3, CACNA1A, HAP1

Sources for Spinocerebellar Ataxia 17

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet