MCID: SPN296
MIFTS: 41

Spinocerebellar Ataxia 17 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 17

About this section

Aliases & Descriptions for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 49 11 45 67 65
Spinocerebellar Ataxia Type 17 10 21 45 12 51 24
Sca17 21 47 51 67
 
Huntington Disease-Like 4 21 51 67
Hdl4 21 51 67
Sca 17 45

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

HPO:

61
spinocerebellar ataxia 17:
Inheritance: autosomal dominant inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM49 607136
Disease Ontology10 DOID:0050967
Orphanet51 98759
ICD10 via Orphanet28 G11.8
MedGen34 C1846707
MeSH36 D020754
UMLS65 C1846707

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 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 eye, cerebellum and spinal cord, and related mouse phenotypes are nervous system and behavior/neurological.

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

GeneReviews summary for NBK1438

Related Diseases for Spinocerebellar Ataxia 17

About this section

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

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia, autosomal recessive 1711.5
2spinocerebellar ataxia type1711.5
3b-cell lymphomas10.4
4lymphoma10.4
5renal cell carcinoma10.2
6alcohol abuse10.2
7insulinoma10.2
8marginal zone b-cell lymphoma10.2
9osteoarthritis10.2
10adenoiditis10.2
11limb-girdle muscular dystrophy10.2
12prostatitis10.2
13hidradenitis suppurativa10.2
14hidradenitis10.2
15synovitis10.2
16adenocarcinoma10.2
17poliomyelitis10.2
18subacute thyroiditis10.2
19thyroiditis10.2
20bronchiectasis10.2
21muscular dystrophy10.2
22central serous chorioretinopathy10.2
23elastosis perforans serpiginosa10.2
24endotheliitis10.2
25chordoma10.2
26endometrial cancer10.2
27scurvy10.2
28portal hypertension10.2
29myoblastoma10.2
30adenoma10.2
31intestinal obstruction10.2
32duodenitis10.2
33epilepsy, familial temporal lobe, 410.0JPH3, TBP
34hypocalciuric hypercalcemia, type ii9.7ATXN3, ATXN7
35hypochondriasis9.7ATXN3, JPH3, TBP
36mednik syndrome9.6ATXN3, ATXN7
37hyperalphalipoproteinemia9.6ATXN3, ATXN7
38celiac disease 139.4ATN1, ATXN3, ATXN7
39hypospadias 1, x-linked9.4ATXN3, ATXN7
40tremor, hereditary essential, 39.4ATN1, ATXN3, ATXN7
41parasitic protozoa infectious disease9.4ATXN3, ATXN7, PPP2R2B
42mental retardation, autosomal recessive 329.4ATN1, ATXN3, ATXN7
43ataxias and cerebellar or spinocerebellar degeneration9.2ATXN3, ATXN7, PPP2R2B, TBP
44mucopolysaccharidosis ih9.1ATN1, ATXN3, HAP1, JPH3, TBP
45hereditary hemorrhagic telangiectasia8.9ATN1, ATXN3, ATXN7, PPP2R2B, TBP
46schistosoma mansoni infection, susceptibility/8.9ATN1, ATXN3, ATXN7, PPP2R2B, TBP
47labyrinthine bilateral reactive loss8.9ATN1, ATXN3, ATXN7, PPP2R2B, TBP
48bruck syndrome 28.9ATN1, ATXN3, ATXN7, PPP2R2B, TBP
49okt4 epitope deficiency8.6ATN1, ATXN3, ATXN7, JPH3, PPP2R2B, TBP
50rigidity and multifocal seizure syndrome, lethal neonatal8.4ATN1, ATXN3, ATXN7, HAP1, JPH3, PPP2R2B

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



Diseases related to spinocerebellar ataxia 17

Symptoms for Spinocerebellar Ataxia 17

About this section

Symptoms by clinical synopsis from OMIM:

607136

Clinical features from OMIM:

607136

HPO human phenotypes related to Spinocerebellar Ataxia 17:

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

Drugs & Therapeutics for Spinocerebellar Ataxia 17

About this section

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigationalPhase 4109450-28-25757, 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 41894205-90-72803
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
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 49988
4HormonesPhase 411748
5Hormone AntagonistsPhase 410002
6insulinPhase 44278
7Insulin, Globin ZincPhase 44278
8Polyestradiol phosphatePhase 41095
9Peripheral Nervous System AgentsPhase 418510
10Neurotransmitter AgentsPhase 414795
11MitogensPhase 41386
12EstrogensPhase 42144
13Estradiol 3-benzoatePhase 41094
14AnalgesicsPhase 49358
15Adrenergic alpha-AgonistsPhase 41300
16Adrenergic alpha-2 Receptor AgonistsPhase 4790
17Antihypertensive AgentsPhase 43618
18Estradiol valeratePhase 41094979-32-8
19Adrenergic AgentsPhase 44204
20Estradiol 17 beta-cypionatePhase 41094
21Contraceptive AgentsPhase 41706
22Adrenergic AgonistsPhase 42331
23arginineNutraceuticalPhase 4364

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

About this section

Anatomical Context for Spinocerebellar Ataxia 17

About this section

MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

33
Eye, Cerebellum, Spinal cord, Testes, Skin

Animal Models for Spinocerebellar Ataxia 17 or affiliated genes

About this section

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.3ATN1, ATXN3, ATXN7, HAP1, JPH3, TBP
2MP:00053867.0ATN1, ATXN3, ATXN7, HAP1, JPH3, TBP

Publications for Spinocerebellar Ataxia 17

About this section

Articles related to Spinocerebellar Ataxia 17:

(show all 13)
idTitleAuthorsYear
1
Genomic characterization and integrative properties of phiSMA6 and phiSMA7, two novel filamentous bacteriophages of Stenotrophomonas maltophilia. (24327089)
2013
2
Workforce diversity in outpatient substance abuse treatment: the role of leaders' characteristics. (22658932)
2013
3
Test characteristics of ultrasonography for the detection of pneumothorax: a systematic review and meta-analysis. (21868468)
2012
4
Structural basis for cell surface patterning through NetrinG-NGL interactions. (21946559)
2011
5
Fluorescent in situ hybridization testing in primary sclerosing cholangitis: useful testing or a random chance result? (20034029)
2010
6
Expression of cathepsin K and matrix metalloproteinase 1 indicate persistent osteodestructive activity in long-standing ankylosing spondylitis. (18678577)
2009
7
The structure and function of telomerase reverse transcriptase. (16756500)
2006
8
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. (16344349)
2005
9
The tumour suppressor gene maspin is differentially regulated in cytotrophoblasts during human placental development. (11969337)
2002
10
Characteristics and composition of the vitamin K-dependent gamma-glutamyl carboxylase-binding domain on osteocalcin. (11988107)
2002
11
Race and the shaken baby syndrome: experience at one hospital. (2733055)
1989
12
Paradoxical psychotherapy in a case of transvestism. (3676137)
1987
13
Recovery from hepatic coma and respiratory arrest with help of positive-pressure ventilation and intermittent plasma exchange. (4919228)
1970

Variations for Spinocerebellar Ataxia 17

About this section

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

About this section
Search GEO for disease gene expression data for Spinocerebellar Ataxia 17.

Pathways for genes affiliated with Spinocerebellar Ataxia 17

About this section

GO Terms for genes affiliated with Spinocerebellar Ataxia 17

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300549.2ATN1, HAP1

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

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:00072689.0ATXN3, HAP1

Sources for Spinocerebellar Ataxia 17

About this section
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