MCID: SPN291
MIFTS: 48

Spinocerebellar Ataxia 7 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 7

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 21GeneReviews, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 49 11 45 67
Spinocerebellar Ataxia Type 7 21 45 22 47 51 24 65
Sca7 45 22 51 67
Olivopontocerebellar Atrophy 3 45 22 65
Opca with Retinal Degeneration 45 22
Opca Iii 45 67
Opca3 45 67
Sca 7 21 22
 
Opca with Macular Degeneration and External Ophthalmoplegia 45
Olivopontocerebellar Atrophy with Retinal Degeneration 67
Cerebellar Syndrome - Pigmentary Maculopathy 51
Hereditary Ataxia with Retinal Degeneration 22
Autosomal Dominant Cerebellar Ataxia Type 2 45
Ataxia with Pigmentary Retinopathy 51
Olivopontocerebellar Atrophy Iii 67
Adca, Type Ii 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 164500
Orphanet51 94147
ICD10 via Orphanet28 G11.8
UMLS via Orphanet66 C0752125
MedGen34 C0752125
MeSH36 D020754

Summaries for Spinocerebellar Ataxia 7

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NIH Rare Diseases:45 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 cerebellar ataxia and ataxias and cerebellar or spinocerebellar degeneration, and has symptoms including hyperreflexia, mental deterioration and nystagmus. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7). Affiliated tissues include eye, cerebellum and spinal cord, and related mouse phenotypes are reproductive system and behavior/neurological.

OMIM:49 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of... (164500) more...

UniProtKB/Swiss-Prot:67 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 summary for sca7

Related Diseases for Spinocerebellar Ataxia 7

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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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.5ATXN2, ATXN7
2ataxias and cerebellar or spinocerebellar degeneration29.9ATXN2, ATXN7
3spinocerebellar ataxia 229.7ATXN2, CHERP
4spinocerebellar degeneration29.7ATXN2, ATXN7
5spinocerebellar ataxia10.8
6ataxia10.8
7olivopontocerebellar atrophy10.7
8retinitis10.6
9retinal degeneration10.5
10neuronitis10.4
11spinocerebellar ataxia, autosomal recessive 710.3
12cone-rod dystrophy10.3
13hepatitis10.3
14kearns-sayre syndrome10.3
15cerebellar disease10.3
16neuropathy10.3
17peripheral neuropathy10.3
18spastic paraparesis10.3
19spasticity10.3
20neuronal ceroid lipofuscinosis10.2
21cerebellar degeneration10.2
22late-infantile neuronal ceroid lipofuscinosis10.2
23spinocerebellar ataxia 110.1
24machado-joseph disease10.1
25hereditary hemorrhagic telangiectasia10.0ATXN2, ATXN7
26spinocerebellar ataxia 1210.0ATXN2, ATXN7
27spinocerebellar ataxia 1710.0ATXN2, ATXN7
28coccidioidomycosis10.0ATXN2, ATXN7
29cerebellar medulloblastoma10.0ATXN2, ATXN7
30dentatorubro-pallidoluysian atrophy10.0ATXN2, ATXN7
31mental retardation, autosomal recessive 3210.0ATXN2, ATXN7
32spinocerebellar ataxia 3710.0
33restless legs syndrome 710.0
34restless legs syndrome 410.0
35c syndrome10.0
36restless legs syndrome 810.0
37peeling skin syndrome 110.0
38restless legs syndrome 610.0
39restless legs syndrome 310.0
40spinocerebellar ataxia 510.0
41restless legs syndrome 110.0
42spinocerebellar ataxia 810.0
43restless legs syndrome 210.0
44peeling skin syndrome 210.0
45exfoliation syndrome10.0
46spinocerebellar ataxia 410.0
47spinocerebellar ataxia 610.0
48peeling skin syndrome 310.0
49restless legs syndrome 510.0
50hereditary ataxia10.0

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



Diseases related to spinocerebellar ataxia 7

Symptoms for Spinocerebellar Ataxia 7

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Symptoms by clinical synopsis from OMIM:

164500

Clinical features from OMIM:

164500

HPO human phenotypes related to Spinocerebellar Ataxia 7:

(show all 22)
id Description Frequency HPO Source Accession
1 hyperreflexia 7% HP:0001347
2 mental deterioration rare (5%) HP:0001268
3 nystagmus 2% HP:0000639
4 dysarthria 2% HP:0001260
5 tremor 2% HP:0001337
6 progressive cerebellar ataxia 2% HP:0002073
7 optic atrophy very rare (1%) HP:0000648
8 autosomal dominant inheritance HP:0000006
9 slow saccadic eye movements HP:0000514
10 progressive visual loss HP:0000529
11 macular degeneration HP:0000608
12 supranuclear ophthalmoplegia HP:0000623
13 pigmentary retinal degeneration HP:0001146
14 spasticity HP:0001257
15 dysmetria HP:0001310
16 dysphagia HP:0002015
17 abnormality of extrapyramidal motor function HP:0002071
18 chorea HP:0002072
19 orofacial dyskinesia HP:0002310
20 olivopontocerebellar atrophy HP:0002542
21 babinski sign HP:0003487
22 genetic anticipation with paternal anticipation bias HP:0003744

Drugs & Therapeutics for Spinocerebellar Ataxia 7

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Riluzoleapproved, investigationalPhase 2, Phase 3581744-22-55070
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 Hydrochloride
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
2idebenonePhase 117
3
Indoleexperimental, NutraceuticalPhase 19120-72-9798
Synonyms:
1-Azaindene
1-Benzazole
 
2,3-Benzopyrrole
Benzo[b]pyrrole
Indole
Ketole

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
2Efficacy and Safety Study of Mesenchymal Stem Cells (Stemchymal®) in Polyglutamine Spinocerebellar AtaxiaRecruitingNCT02540655Phase 2
3A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationEnrolling by invitationNCT01489267Phase 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
6Biomarkers in Autosomal Dominant Cerebellar AtaxiaCompletedNCT01470729
7Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
8Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
9RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Active, not recruitingNCT01037777
10Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia PatientsNot yet recruitingNCT01075438

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 Type 722 ATXN7
2 Spinocerebellar Ataxia 724

Anatomical Context for Spinocerebellar Ataxia 7

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MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

33
Eye, Cerebellum, Spinal cord, Brain, Retina, Skin

Animal Models for Spinocerebellar Ataxia 7 or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Ataxia 7:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3APLP2, ATXN2, ATXN7, HSPA4
2MP:00053867.8APLP2, ATXN2, ATXN7, HSPA4, TPP1
3MP:00036317.6APLP2, ATXN2, ATXN7, HSPA4, TPP1

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
Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7. (25054097)
2014
3
Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7. (24390202)
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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GO Terms for genes affiliated with Spinocerebellar Ataxia 7

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

idNameGO IDScoreTop Affiliating Genes
1neuromuscular process controlling balanceGO:00508859.2APLP2, TPP1

Sources for Spinocerebellar Ataxia 7

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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