MCID: SPN291
MIFTS: 51

Spinocerebellar Ataxia 7

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

Aliases & Classifications for Spinocerebellar Ataxia 7

MalaCards integrated aliases for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 54 50 71 29 13
Spinocerebellar Ataxia Type 7 12 23 50 24 56 52 14 69
Sca7 50 24 56 71
Olivopontocerebellar Atrophy Iii 24 71
Olivopontocerebellar Atrophy 3 50 69
Opca with Retinal Degeneration 50 24
Opca Iii 50 71
Sca 7 23 24
Opca3 50 71
Opca with Macular Degeneration and External Ophthalmoplegia 50
Olivopontocerebellar Atrophy with Retinal Degeneration 71
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
mean age at onset 32 years
paternal anticipation bias



GeneReviews:

23
Penetrance See molecular genetic testing...

Classifications:



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 progressive visual loss, optic atrophy 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 Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotype is Increased Nanog expression.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (164500)

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, Autosomal Recessive 22 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 7
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
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, Autosomal Recessive 23
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 25
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, Autosomal Recessive 21 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 4
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia, Autosomal Recessive 26
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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
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 cystic echinococcosis 10.3 ATXN2 ATXN7
5 olivopontocerebellar atrophy 10.3
6 hereditary spastic paraplegia 10.3 ATXN2 ATXN7
7 okt4 epitope deficiency 10.2 ATXN2 ATXN7
8 celiac disease 13 10.2 ATXN2 ATXN7
9 idiopathic interstitial pneumonia 10.1 ATXN2 ATXN7
10 dipetalonemiasis 10.1 ATXN2 ATXN7
11 schistosoma mansoni infection, susceptibility/ 10.0 ATXN2 ATXN7
12 retinal degeneration 10.0
13 cerebellar ataxia 10.0
14 autosomal dominant cerebellar ataxia 10.0
15 neuronitis 10.0
16 cerebellar degeneration 9.8
17 neuronal ceroid lipofuscinosis 9.8
18 proteus syndrome, somatic 9.8 ATXN2 ATXN7
19 adams-oliver syndrome 4 6.6 AGXT ATXN2 ATXN7 CRX KAT2B SCAANT1

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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy
vision loss, progressive
macular degeneration
supranuclear ophthalmoplegia
slow saccades
more
Neurologic- Central Nervous System:
dysphagia
chorea
dysarthria
hyperreflexia
spasticity
more

Clinical features from OMIM:

164500

Human phenotypes related to Spinocerebellar Ataxia 7:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 optic atrophy 32 very rare (1%) HP:0000648
3 nystagmus 32 very rare (1%) HP:0000639
4 dysphagia 32 HP:0002015
5 chorea 32 HP:0002072
6 dysarthria 32 very rare (1%) HP:0001260
7 tremor 32 very rare (1%) HP:0001337
8 hyperreflexia 32 very rare (1%) HP:0001347
9 spasticity 32 HP:0001257
10 macular degeneration 32 HP:0000608
11 supranuclear ophthalmoplegia 32 HP:0000623
12 dysmetria 32 HP:0001310
13 mental deterioration 32 occasional (7.5%) HP:0001268
14 pigmentary retinal degeneration 32 HP:0001146
15 progressive cerebellar ataxia 32 very rare (1%) HP:0002073
16 orofacial dyskinesia 32 HP:0002310
17 babinski sign 32 HP:0003487
18 olivopontocerebellar atrophy 32 HP:0002542
19 abnormality of extrapyramidal motor function 32 HP:0002071
20 slow saccadic eye movements 32 HP:0000514

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 ATXN2 TRRAP
3 Increased Nanog expression GR00371-A-3 9.28 TRRAP
4 Increased Nanog expression GR00371-A-5 9.28 ATXN2 KAT2B TAF9 TRRAP

Drugs & Therapeutics for Spinocerebellar Ataxia 7

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Anticonvulsants Phase 2, Phase 3
3 Excitatory Amino Acid Antagonists Phase 2, Phase 3
4 Excitatory Amino Acids Phase 2, Phase 3
5 Neuroprotective Agents Phase 2, Phase 3
6 Neurotransmitter Agents Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
2 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
3 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
4 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
5 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
6 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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 13)
id Title Authors Year
1
Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7. ( 28575281 )
2017
2
Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population. ( 25900954 )
2015
3
Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families. ( 24883214 )
2014
4
Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7. ( 24390202 )
2014
5
Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7. ( 25054097 )
2014
6
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
7
Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in spinocerebellar ataxia 7 mouse retina. ( 20600911 )
2010
8
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. ( 17344386 )
2007
9
Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. ( 15377695 )
2004
10
Spinocerebellar ataxia 7 (SCA7). ( 14526176 )
2003
11
Ocular findings in spinocerebellar ataxia 7. ( 12003621 )
2002
12
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
13
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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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43 MESH via Orphanet
44 MGI
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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