MCID: SPN296
MIFTS: 49

Spinocerebellar Ataxia 17 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 17

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 65UMLS, 67UniProtKB/Swiss-Prot, 21GeneReviews, 51Orphanet, 24GTR, 47Novoseek, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 49 11 45 65 67
Spinocerebellar Ataxia Type 17 21 45 51 24
Sca17 21 47 51 67
 
Huntington Disease-Like 4 21 51 67
Hdl4 21 51 67
Sca 17 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
spinocerebellar ataxia type 17:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Japan),1-9/1000000 (United Kingdom); Age of onset: All ages


External Ids:

OMIM49 607136
Orphanet51 98759
ICD10 via Orphanet28 G11
MedGen34 C1846707
MeSH36 D020754

Summaries for Spinocerebellar Ataxia 17

About this section
UniProtKB/Swiss-Prot:67 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 huntington disease and cerebellar ataxia, and has symptoms including autosomal dominant inheritance, urinary incontinence and gaze-evoked nystagmus. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA Box Binding Protein), and among its related pathways are Parkinsons Disease Pathway and Akt Signaling. Affiliated tissues include eye, spinal cord and cerebellum, and related mouse phenotypes are mortality/aging and growth/size/body.

OMIM:49 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs,... (607136) more...

GeneReviews summary for sca17

Related Diseases for Spinocerebellar Ataxia 17

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Diseases in the Spinocerebellar Ataxia 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 2
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 19/22 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia Autosomal Recessive 5

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1huntington disease29.7ATN1, ATXN1, ATXN3, HAP1, JPH3, TBP
2cerebellar ataxia29.0ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
3spinocerebellar ataxia10.8
4ataxia10.8
5frontal lobe epilepsy10.3
6dementia10.3
7dystonia10.2
8focal dystonia10.2
9huntington disease-like syndrome10.1
10spinocerebellar ataxia 710.1ATXN2, ATXN7
11spinocerebellar ataxia type1710.1
12choreoacanthocytosis10.0JPH3, TBP
13vascular erectile tumor10.0ATXN2, FGF14
14cerebellar hypoplasia10.0ATXN2, CACNA1A
15choriocarcinoma9.9ATXN3, JPH3, TBP
16spinocerebellar ataxia 29.9ATXN2, ATXN3
17neuropathy ataxia retinitis pigmentosa syndrome9.8ABT1, ATXN1, ATXN3
18hypospadias 1, x-linked9.8ATN1, ATXN1, ATXN3, ATXN7
19spinocerebellar ataxia 19.7ATN1, ATXN1, ATXN3, CACNA1A
20coccidioidomycosis9.7ATXN1, ATXN2, ATXN7, SLC6A3
21parkinson disease, late-onset9.6ATXN2, ATXN3, SLC6A3, TBP
22ataxias and cerebellar or spinocerebellar degeneration9.5ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
23central nervous system germ cell tumor9.4ATN1, ATXN2, ATXN3, CACNA1A, SLC6A3
24cerebellar medulloblastoma9.3ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B
25spinocerebellar degeneration9.3ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B
26spinocerebellar ataxia 129.2ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
27hereditary hemorrhagic telangiectasia9.2ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
28spleen cancer9.2ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
29mental retardation, autosomal recessive 329.1ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
30dentatorubro-pallidoluysian atrophy8.9ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
31spinocerebellar ataxia 178.2ABT1, ATN1, ATXN1, ATXN2, ATXN3, ATXN7

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



Diseases related to spinocerebellar ataxia 17

Symptoms for Spinocerebellar Ataxia 17

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Symptoms by clinical synopsis from OMIM:

607136

Clinical features from OMIM:

607136

HPO human phenotypes related to Spinocerebellar Ataxia 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 HP:0003676
33 impaired pursuit initiation and maintenance HP:0007668
34 paranoia HP:0011999

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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigationalPhase 4105750-28-25757, 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
Depo-estradiol
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 Transdermal System
Estradiol Valerate
Estradiol [USAN:INN]
Estradiol acetate
Estradiol benzoate
Estradiol cypionate
Estradiol valerate
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
Femring
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
Minivelle
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)
Vivelle Dot
Vivelle-dot
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 41774205-90-72803
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
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine Hydrochloride
Clonidine Transdermal System
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
Kapvay
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
Nexiclon
Nexiclon Xr
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
3insulinPhase 44069
4Insulin, Globin ZincPhase 44069
5Polyestradiol phosphatePhase 41057
6Estradiol valeratePhase 41057979-32-8
7Estradiol 17 beta-cypionatePhase 41083
8Estradiol 3-benzoatePhase 41057
9Adrenergic alpha-2 Receptor AgonistsPhase 4732
10arginineNutraceuticalPhase 4346

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)RecruitingNCT01052623Phase 4

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 1724

Anatomical Context for Spinocerebellar Ataxia 17

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MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

33
Eye, Spinal cord, Cerebellum, Brain, Skin

Animal Models for Spinocerebellar Ataxia 17 or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.0ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, HAP1
2MP:00053786.6ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, FGF14
3MP:00036316.3ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
4MP:00053866.0ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

Publications for Spinocerebellar Ataxia 17

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Articles related to Spinocerebellar Ataxia 17:

(show all 13)
idTitleAuthorsYear
1
From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. (25349749)
2014
2
Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings. (24339615)
2013
3
Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). (22659444)
2012
4
Regulation of BACE1 by miR-29a/b in a cellular model of Spinocerebellar Ataxia 17. (22664922)
2012
5
CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. (21311576)
2011
6
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. (20016963)
2010
7
Difficulty identifying spinocerebellar ataxia 17 from preceding psychiatric symptoms. (18950389)
2008
8
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). (18418687)
2008
9
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. (16532453)
2006
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
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. (16223509)
2005
13
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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Pathways related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3ATXN2, SLC6A3
2
Show member pathways
8.4ATXN1, ATXN2, ATXN3, ATXN7, FGF14, PPP2R2B

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 inclusion bodyGO:00424059.8ATXN1, ATXN3
2nuclear matrixGO:00163639.1ATN1, ATXN1, ATXN3, ATXN7

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:004356910.2ATXN1, ATXN7
2cerebellar Purkinje cell differentiationGO:002170210.1ATXN2, CACNA1A
3negative regulation of phosphorylationGO:004232610.1ATXN1, ATXN7
4spinal cord motor neuron differentiationGO:00215229.8ABT1, CACNA1A
5neuromuscular processGO:00509059.8ATXN2, CACNA1A, FGF14
6synaptic transmissionGO:00072687.8ATXN3, CACNA1A, FGF14, HAP1, SLC6A3

Sources for Spinocerebellar Ataxia 17

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet