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

Aliases & Descriptions for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 54 50 66 13
Spinocerebellar Ataxia Type 7 12 23 50 24 56 29 52 14 69
Sca7 50 24 56 66
Olivopontocerebellar Atrophy Iii 24 66
Olivopontocerebellar Atrophy 3 50 69
Opca with Retinal Degeneration 50 24
Opca Iii 50 66
Sca 7 23 24
Opca3 50 66
Opca with Macular Degeneration and External Ophthalmoplegia 50
Olivopontocerebellar Atrophy with Retinal Degeneration 66
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome 56
Autosomal Dominant Cerebellar Ataxia Type 2 50
Hereditary Ataxia with Retinal Degeneration 24
Ataxia with Pigmentary Retinopathy 56
Adca, Type Ii 50

Characteristics:

Orphanet epidemiological data:

56
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

GeneReviews:

23
Penetrance See molecular genetic testing...

Classifications:



External Ids:

OMIM 54 164500
Disease Ontology 12 DOID:0050958
Orphanet 56 ORPHA94147
UMLS via Orphanet 70 C0752125
ICD10 via Orphanet 34 G11.8
MedGen 40 C0752125
MeSH 42 D020754

Summaries for Spinocerebellar Ataxia 7

NIH Rare Diseases : 50 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 tremor, abnormality of extrapyramidal motor function and nystagmus. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways are Chromatin organization and Validated targets of C-MYC transcriptional activation. The drugs Riluzole and Neuroprotective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotype is Increased Nanog expression.

OMIM : 54 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of... (164500) more...

UniProtKB/Swiss-Prot : 66 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: NBK1256

Related Diseases for Spinocerebellar Ataxia 7

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)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 7 11.1
2 spinocerebellar ataxia 1 10.8
3 ataxia 10.4
4 olivopontocerebellar atrophy 10.3
5 cystic echinococcosis 10.2 ATXN2 ATXN7
6 holoprosencephaly 10.1 ATXN2 ATXN7
7 epileptic encephalopathy, early infantile, 21 10.1 ATXN2 ATXN7
8 dipetalonemiasis 10.1 ATXN2 ATXN7
9 osteoporosis 10.1 ATXN2 ATXN7
10 hypocalcemia, autosomal dominant 2 10.0 ATXN7 PDYN
11 cerebellar ataxia 10.0
12 autosomal dominant cerebellar ataxia 10.0
13 retinal degeneration 10.0
14 neuronitis 10.0
15 proteus syndrome, somatic 10.0 ATXN2 ATXN7
16 hypogonadotropic hypogonadism 3 with or without anosmia 10.0 ATXN2 PDYN
17 lissencephaly 6, with microcephaly 9.9 ATXN7 PDYN
18 charcot-marie-tooth disease, axonal, type 2l 9.9 ATXN2 ATXN7 PDYN
19 acute interstitial pneumonia 9.9 ATXN2 ATXN7 PDYN
20 cephalic disorders 9.8 ATXN2 ATXN7 PDYN
21 neuronal ceroid lipofuscinosis 9.8
22 cerebellar degeneration 9.8
23 adams-oliver syndrome 4 8.7 AGXT 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

Symptoms by clinical synopsis from OMIM:

164500

Clinical features from OMIM:

164500

Human phenotypes related to Spinocerebellar Ataxia 7:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 abnormality of extrapyramidal motor function 32 HP:0002071
3 nystagmus 32 HP:0000639
4 spasticity 32 HP:0001257
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 HP:0001347
7 dysphagia 32 HP:0002015
8 chorea 32 HP:0002072
9 optic atrophy 32 HP:0000648
10 progressive visual loss 32 HP:0000529
11 babinski sign 32 HP:0003487
12 dysmetria 32 HP:0001310
13 macular degeneration 32 HP:0000608
14 mental deterioration 32 HP:0001268
15 supranuclear ophthalmoplegia 32 HP:0000623
16 slow saccadic eye movements 32 HP:0000514
17 progressive cerebellar ataxia 32 HP:0002073
18 orofacial dyskinesia 32 HP:0002310
19 olivopontocerebellar atrophy 32 HP:0002542
20 pigmentary retinal degeneration 32 HP:0001146

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.28 ATXN2 TRRAP
2 Increased Nanog expression GR00371-A-2 9.28 TRRAP ATXN2
3 Increased Nanog expression GR00371-A-3 9.28 TRRAP
4 Increased Nanog expression GR00371-A-5 9.28 TRRAP ATXN2 KAT2B TAF9

Drugs & Therapeutics for Spinocerebellar Ataxia 7

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

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Neuroprotective Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Excitatory Amino Acid Antagonists Phase 2, Phase 3
5 Excitatory Amino Acids Phase 2, Phase 3
6 Anticonvulsants Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3,Phase 1
8 Idebenone Approved, Investigational Phase 1 58186-27-9
9 Ubiquinone Phase 1
10 Trace Elements Phase 1
11 Micronutrients Phase 1
12 Antioxidants Phase 1
13
Indole Experimental, Nutraceutical Phase 1 120-72-9 798
14
Menthol Approved 2216-51-5 16666
15 Heptavalent Pneumococcal Conjugate Vaccine
16 Vaccines

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
2 Trial in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT02960893 Phase 2, Phase 3
3 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
4 Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1
5 Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia Completed NCT01898884 Phase 1
6 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
7 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
8 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
9 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
10 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440
11 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
12 Functional and Structural Imaging and Motor Control in Spinocerebellar Ataxia Recruiting NCT02488031
13 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314

Search NIH Clinical Center for Spinocerebellar Ataxia 7

Genetic Tests for Spinocerebellar Ataxia 7

Genetic tests related to Spinocerebellar Ataxia 7:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 7 29
2 Spinocerebellar Ataxia Type 7 24 ATXN7

Anatomical Context for Spinocerebellar Ataxia 7

MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

39
Eye, Cerebellum, Spinal Cord, Brain, Testes, Retina

Publications for Spinocerebellar Ataxia 7

Articles related to Spinocerebellar Ataxia 7:

(show all 12)
id Title Authors Year
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

ClinVar genetic disease variations for Spinocerebellar Ataxia 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATXN7 NM_000333.3(ATXN7): c.88_90CAG(7_17) (p.Gln37_Gln39del) NT expansion Pathogenic rs193922929 GRCh37 Chromosome 3, 63898362: 63898364

Expression for Spinocerebellar Ataxia 7

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

Pathways for Spinocerebellar Ataxia 7

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 ATXN7 KAT2B TAF9 TRRAP
2 11.17 TAF9 TRRAP
3 11.02 KAT2B TRRAP
4 9.97 TAF9 TRRAP

GO Terms for Spinocerebellar Ataxia 7

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor TFTC complex GO:0033276 9.16 TAF9 TRRAP
2 STAGA complex GO:0030914 8.96 TAF9 TRRAP
3 PCAF complex GO:0000125 8.8 KAT2B TAF9 TRRAP

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.62 ATXN7 CRX KAT2B TAF9
2 protein deubiquitination GO:0016579 9.43 ATXN7 KAT2B TRRAP
3 histone H3 acetylation GO:0043966 9.16 KAT2B TAF9
4 histone acetylation GO:0016573 8.96 KAT2B TRRAP
5 histone deubiquitination GO:0016578 8.62 ATXN7 TRRAP

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

id Name GO ID Score Top Affiliating Genes
1 transcription cofactor activity GO:0003712 8.96 KAT2B TRRAP
2 histone acetyltransferase activity GO:0004402 8.62 KAT2B TAF9

Sources for Spinocerebellar Ataxia 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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