SCA7
MCID: SPN291
MIFTS: 51

Spinocerebellar Ataxia 7 (SCA7) malady

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

Aliases & Classifications for Spinocerebellar Ataxia 7

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 52 48 70 12
Spinocerebellar Ataxia Type 7 11 23 48 24 54 27 50 13 68
Sca7 48 24 54 70
Olivopontocerebellar Atrophy Iii 24 70
Olivopontocerebellar Atrophy 3 48 68
Opca with Retinal Degeneration 48 24
Opca Iii 48 70
Sca 7 23 24
 
Opca3 48 70
Opca with Macular Degeneration and External Ophthalmoplegia 48
Olivopontocerebellar Atrophy with Retinal Degeneration 70
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome 54
Hereditary Ataxia with Retinal Degeneration 24
Autosomal Dominant Cerebellar Ataxia Type 2 48
Ataxia with Pigmentary Retinopathy 54
Adca, Type Ii 48

Characteristics:

Orphanet epidemiological data:

54
spinocerebellar ataxia type 7:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly,Infancy; Age of death: any age


GeneReviews:

23
Penetrance: see molecular genetic testing...


Classifications:



External Ids:

OMIM52 164500
Disease Ontology11 DOID:0050958
Orphanet54 ORPHA94147
UMLS via Orphanet69 C0752125
ICD10 via Orphanet31 G11.8
MedGen37 C0752125
MeSH39 D020754

Summaries for Spinocerebellar Ataxia 7

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NIH Rare Diseases:48 Spinocerebellar ataxia 7 (sca7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). sca7 differs from most other forms of sca in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. sca7 is caused by mutations in the atxn7 gene and is inherited in an autosomal dominant manner. treatment is generally symptomatic and supportive. last updated: 7/12/2011

MalaCards based summary: Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to spinocerebellar ataxia, autosomal recessive 7 and spinocerebellar ataxia 1, and has symptoms including muscle spasticity, muscle spasticity and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways are Validated targets of C-MYC transcriptional activation and C-MYC pathway. Affiliated tissues include eye, cerebellum and spinal cord, and related mouse phenotype Increased Nanog expression.

OMIM:52 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of... (164500) more...

UniProtKB/Swiss-Prot:70 Spinocerebellar ataxia 7: 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.

GeneReviews for NBK1256

Related Diseases for Spinocerebellar Ataxia 7

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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 43
Spinocerebellar Ataxia, Autosomal Recessive, 24 Spinocerebellar Ataxia, Autosomal Recessive, 22

Diseases related to Spinocerebellar Ataxia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia, autosomal recessive 711.1
2spinocerebellar ataxia 110.8
3ataxia10.4
4olivopontocerebellar atrophy10.3
5cystic echinococcosis10.2ATXN2, ATXN7
6holoprosencephaly10.1ATXN2, ATXN7
7epileptic encephalopathy, early infantile, 2110.1ATXN2, ATXN7
8dipetalonemiasis10.1ATXN2, ATXN7
9osteoporosis10.1ATXN2, ATXN7
10hypocalcemia, autosomal dominant 210.0ATXN7, PDYN
11cerebellar ataxia10.0
12autosomal dominant cerebellar ataxia10.0
13retinal degeneration10.0
14neuronitis10.0
15proteus syndrome, somatic10.0ATXN2, ATXN7
16hypogonadotropic hypogonadism 3 with or without anosmia10.0ATXN2, PDYN
17lissencephaly 6, with microcephaly9.9ATXN7, PDYN
18charcot-marie-tooth disease, axonal, type 2l9.9ATXN2, ATXN7, PDYN
19acute interstitial pneumonia9.9ATXN2, ATXN7, PDYN
20cephalic disorders9.8ATXN2, ATXN7, PDYN
21neuronal ceroid lipofuscinosis9.8
22cerebellar degeneration9.8
23adams-oliver syndrome 48.7AGXT, ATXN2, ATXN7, CRX, KAT2B, PDYN

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 7:



Diseases related to spinocerebellar ataxia 7

Symptoms & Phenotypes for Spinocerebellar Ataxia 7

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Symptoms by clinical synopsis from OMIM:

164500

Clinical features from OMIM:

164500

Human phenotypes related to Spinocerebellar Ataxia 7:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 slow saccadic eye movements64 HP:0000514
2 progressive visual loss64 HP:0000529
3 macular degeneration64 HP:0000608
4 supranuclear ophthalmoplegia64 HP:0000623
5 nystagmus64 HP:0000639
6 optic atrophy64 HP:0000648
7 pigmentary retinal degeneration64 HP:0001146
8 spasticity64 HP:0001257
9 dysarthria64 HP:0001260
10 mental deterioration64 HP:0001268
11 dysmetria64 HP:0001310
12 tremor64 HP:0001337
13 hyperreflexia64 HP:0001347
14 dysphagia64 HP:0002015
15 abnormality of extrapyramidal motor function64 HP:0002071
16 chorea64 HP:0002072
17 progressive cerebellar ataxia64 HP:0002073
18 orofacial dyskinesia64 HP:0002310
19 olivopontocerebellar atrophy64 HP:0002542
20 babinski sign64 HP:0003487

UMLS symptoms related to Spinocerebellar Ataxia 7:


muscle spasticity, abnormal pyramidal signs, abnormality of extrapyramidal motor function

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00371-A-58.6ATXN2, KAT2B, TAF9, TRRAP

Drugs & Therapeutics for Spinocerebellar Ataxia 7

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Drugs for Spinocerebellar Ataxia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Riluzoleapproved, investigationalPhase 2, Phase 3651744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
2AnticonvulsantsPhase 2, Phase 32695
3Protective AgentsPhase 2, Phase 3, Phase 17443
4Neurotransmitter AgentsPhase 2, Phase 318340
5Excitatory Amino Acid AntagonistsPhase 2, Phase 31347
6Excitatory Amino AcidsPhase 2, Phase 31362
7Neuroprotective AgentsPhase 2, Phase 31716
8Idebenoneapproved, investigationalPhase 12158186-27-9
9UbiquinonePhase 1145
10Trace ElementsPhase 16001
11AntioxidantsPhase 13050
12MicronutrientsPhase 16001
13
Indoleexperimental, NutraceuticalPhase 113120-72-9798
Synonyms:
1-Azaindene
1-Benzazole
 
2,3-Benzopyrrole
Benzo[b]pyrrole
Indole
Ketole
14
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
15Heptavalent Pneumococcal Conjugate Vaccine465
16Vaccines6611

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
2Trial in Adult Subjects With Spinocerebellar AtaxiaRecruitingNCT02960893Phase 2, Phase 3
3A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationUnknown statusNCT01489267Phase 2
4Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
5Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's AtaxiaCompletedNCT01898884Phase 1
6RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Unknown statusNCT01037777
7Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia PatientsUnknown statusNCT01075438
8Biomarkers in Autosomal Dominant Cerebellar AtaxiaCompletedNCT01470729
9Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
10Natural History of Spinocerebellar Ataxia Type 7 (SCA7)RecruitingNCT02741440
11Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
12Functional and Structural Imaging and Motor Control in Spinocerebellar AtaxiaRecruitingNCT02488031
13Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314

Search NIH Clinical Center for Spinocerebellar Ataxia 7

Genetic Tests for Spinocerebellar Ataxia 7

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Genetic tests related to Spinocerebellar Ataxia 7:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 727
2 Spinocerebellar Ataxia Type 724 ATXN7

Anatomical Context for Spinocerebellar Ataxia 7

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MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

36
Eye, Cerebellum, Spinal cord, Brain, Testes, Retina

Publications for Spinocerebellar Ataxia 7

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Articles related to Spinocerebellar Ataxia 7:

(show all 12)
idTitleAuthorsYear
1
Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population. (25900954)
2015
2
Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7. (24390202)
2014
3
Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7. (25054097)
2014
4
Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families. (24883214)
2014
5
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). (23418007)
2013
6
Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in spinocerebellar ataxia 7 mouse retina. (20600911)
2010
7
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. (17344386)
2007
8
Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. (15377695)
2004
9
Spinocerebellar ataxia 7 (SCA7). (14526176)
2003
10
Ocular findings in spinocerebellar ataxia 7. (12003621)
2002
11
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG). (10602364)
1999
12
De novo expansion of intermediate alleles in spinocerebellar ataxia 7. (9736784)
1998

Variations for Spinocerebellar Ataxia 7

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Clinvar genetic disease variations for Spinocerebellar Ataxia 7:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATXN7NM_ 000333.3(ATXN7): c.88_ 90CAG(7_ 17) (p.Gln37_ Gln39del)NT expansionPathogenicrs193922929GRCh37Chr 3, 63898362: 63898364

Expression for genes affiliated with Spinocerebellar Ataxia 7

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 7.

Pathways for genes affiliated with Spinocerebellar Ataxia 7

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Pathways related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5TAF9, TRRAP
29.5TAF9, TRRAP
39.4KAT2B, TRRAP
4
Show member pathways
8.7ATXN7, KAT2B, TAF9, TRRAP

GO Terms for genes affiliated with Spinocerebellar Ataxia 7

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Cellular components related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1STAGA complexGO:00309149.8TAF9, TRRAP
2transcription factor TFTC complexGO:00332769.5TAF9, TRRAP
3PCAF complexGO:00001259.4KAT2B, TAF9, TRRAP

Biological processes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone deubiquitinationGO:001657810.4ATXN7, TRRAP
2histone H3 acetylationGO:004396610.2KAT2B, TAF9
3histone acetylationGO:001657310.2KAT2B, TRRAP
4positive regulation of transcription from RNA polymerase II promoterGO:00459449.4ATXN7, CRX, KAT2B, TAF9
5protein deubiquitinationGO:00165799.1ATXN7, KAT2B, TRRAP

Molecular functions related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase activityGO:000440210.0KAT2B, TAF9
2transcription cofactor activityGO:00037129.4KAT2B, TRRAP

Sources for Spinocerebellar Ataxia 7

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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