SCA7
MCID: SPN069
MIFTS: 54

Spinocerebellar Ataxia Type 7 (SCA7) malady

Neuronal diseases, Eye diseases categories

Summaries for Spinocerebellar Ataxia Type 7

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Spinocerebellar Ataxia Type 7, also known as spinocerebellar ataxia 7, is related to spinocerebellar ataxia and spinocerebellar degeneration. An important gene associated with Spinocerebellar Ataxia Type 7 is ATXN7 (ataxin 7), and among its related pathways are Proteolysis Putative ubiquitin pathway and Regulation of degradation of wt-CFTR. The compounds geranylgeranylacetone and rebamipide have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cerebellum, and related mouse phenotypes are reproductive system and growth/size.

Description from OMIM:46 164500

GeneReviews summary for sca7

Aliases & Classifications for Spinocerebellar Ataxia Type 7

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19GeneReviews, 44Novoseek, 48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
spinocerebellar ataxia type 7:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 7 19 44 48 60
spinocerebellar ataxia 7 42 20 22 46
olivopontocerebellar atrophy 3 42 60
opca with macular degeneration and external ophthalmoplegia 42
autosomal dominant spinocerebellar ataxia type 7 48
cerebellar syndrome - pigmentary maculopathy 48
autosomal dominant cerebellar ataxia type 2 42
opca with retinal degeneration 42
adca type 2 42
sca 7 19
sca7 48


External Ids:

OMIM46 164500
ICD10 via Orphanet26 G11.8

Related Diseases for Spinocerebellar Ataxia Type 7

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17GeneCards, 18GeneDecks
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Diseases in the Spinocerebellar Ataxia Type 6 family:

Spinocerebellar Ataxia Spinocerebellar Ataxia Type 3
spinocerebellar ataxia type 7 Spinocerebellar Ataxia Type 8
Spinocerebellar Ataxia Type 10 Spinocerebellar Ataxia Type 11
Spinocerebellar Ataxia Type 12 Spinocerebellar Ataxia Type 13
Spinocerebellar Ataxia Type 14 Spinocerebellar Ataxia Type 15
Spinocerebellar Ataxia Type 17 Spinocerebellar Ataxia Type 20
Spinocerebellar Ataxia Type 28 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35

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

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.6ATXN1, CACNA1A, ATXN2, ATXN3
2spinocerebellar degeneration30.7CACNA1A, ATXN2, ATXN3, ATXN1, CHERP
3cerebellar ataxia30.7CACNA1A, ATXN2, ATXN7, ATXN3
4retinal degeneration30.5ATXN7, CRX
5spinocerebellar ataxia type 329.9ATXN3
6olivopontocerebellar atrophy29.9ATXN2, ATXN3
7retinitis10.5
8neuronitis10.4
9cone-rod dystrophy10.2
10kearns-sayre syndrome10.2
11cone dystrophy10.2
12cerebellar disease10.2
13hepatitis10.2
14childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia10.2
15autosomal recessive disease10.2
16neuronal ceroid lipofuscinosis10.2
17ophthalmoplegia10.0ATXN7
18multiple sclerosis10.0HSPB1
19neuropathy10.0CACNA1A
20dementia10.0HSPA4, HSPB1
21amyotrophic lateral sclerosis10.0ATXN2, HSPB1
22multiple system atrophy10.0ATXN1, ATXN3
23motor neuron disease10.0HSPA4, HSPB1
24huntington's disease10.0ATXN3, ATXN1
25myopathy10.0CACNA1A, HSPB1
26alzheimer's disease10.0CHERP, RELN
27dysphagia10.0ATXN1, ATXN3
28dentatorubral-pallidoluysian atrophy10.0ATXN2, ATXN3, ATN1, ATXN1
29non-small cell lung carcinoma10.0HGF, HSPA4, HSPB1
30friedreich ataxia10.0CACNA1A, ATXN2, ATXN3, ATXN1
31spinocerebellar ataxia type 1210.0CACNA1A, ATXN2, ATXN7, ATXN3, ATN1, ATXN1
32spinocerebellar ataxia type 1710.0ATN1, ATXN1, ATXN3, ATXN7, CACNA1A, ATXN2
33hereditary ataxia10.0CACNA1A, ATXN2, ATXN7, ATXN3, ATN1, ATXN1
34epilepsy syndrome10.0HSPB1, HSPA4, CACNA1A, ATXN2, RELN
35machado-joseph disease10.0
36familial dystonia10.0

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



Diseases related to spinocerebellar ataxia type 7

Clinical Features for Spinocerebellar Ataxia Type 7

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46OMIM
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Clinical features from OMIM:

164500

Clinical synopsis from OMIM:

164500

Drugs & Therapeutics for Spinocerebellar Ataxia Type 7

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Spinocerebellar Ataxia Type 7

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 7

Search NIH Clinical Center for Spinocerebellar Ataxia Type 7

Search CenterWatch for Spinocerebellar Ataxia Type 7

Genetic Tests for Spinocerebellar Ataxia Type 7

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20GeneTests, 22GTR
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Genetic tests related to Spinocerebellar Ataxia Type 7:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 720 ATXN7
2 Spinocerebellar Ataxia 722

Anatomical Context for Spinocerebellar Ataxia Type 7

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32MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 7:

32
Eye, Brain, Cerebellum

Animal Models for Spinocerebellar Ataxia Type 7 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 7:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3CACNA1A, ATXN2, ATXN7, ATN1, RELN, HSPA4
2MP:00053787.0HGF, CACNA1A, PSMC1, ATXN2, ATXN7, ATN1
3MP:00053866.7RELN, HSPA4, CACNA1A, PSMC1, CRX, ATXN2
4MP:00036316.7HSPA4, CACNA1A, PSMC1, CRX, ATXN2, ATXN7
5MP:00107686.6HSPA4, HGF, CACNA1A, PSMC1, ATXN2, ATXN7

Publications for Spinocerebellar Ataxia Type 7

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50PubMed
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Articles related to Spinocerebellar Ataxia Type 7:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. (22915085)
2013
2
Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model. (24160175)
2013
3
Spinocerebellar ataxia type 7: Report of an Indian family. (24339617)
2013
4
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families. (24374739)
2013
5
Disruption of visual and motor connectivity in spinocerebellar ataxia type 7. (23926060)
2013
6
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. (23236151)
2012
7
Spinocerebellar ataxia type 7: report of a new Italian family. (23064575)
2012
8
Spinocerebellar ataxia type 7. (21827908)
2012
9
Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7. (20739808)
2010
10
Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population. (20819679)
2010
11
A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7. (20714058)
2010
12
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. (19726938)
2009
13
Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). (19172503)
2009
14
Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings. (19726939)
2009
15
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. (17720198)
2008
16
Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7). (18221259)
2008
17
Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments. (17971076)
2008
18
Spinocerebellar ataxia type 7 presenting as Stargardt's disease. (18080847)
2008
19
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. (18216249)
2008
20
Spastic paraparesis as the onset manifestation of spinocerebellar ataxia type 7. (18545792)
2008
21
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. (18418675)
2008
22
Spinocerebellar ataxia type 7 (SCA7): family princeps history, genealogy and geographical distribution. (16791360)
2006
23
Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice. (16297465)
2005
24
Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat. (16389941)
2005
25
Decreased expression of Hsp27 and Hsp70 in transformed lymphoblastoid cells from patients with spinocerebellar ataxia type 7. (16039988)
2005
26
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. (15750685)
2005
27
Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7. (15860307)
2005
28
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. (14571264)
2004
29
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7. (15316811)
2004
30
A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. (12533095)
2003
31
Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse model. (14526177)
2003
32
Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene. (12039035)
2002
33
Spinocerebellar ataxia type 7 without retinal degeneration: a case report. (12172062)
2002
34
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. (12126946)
2002
35
Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. (11354830)
2001
36
Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation. (11168877)
2001
37
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. (11697534)
2001
38
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. (11709544)
2001
39
Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. (11409434)
2001
40
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. (11175279)
2000
41
Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7. (10787310)
2000
42
Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. (11030806)
2000
43
Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. (10556295)
1999
44
Maculopathy in spinocerebellar ataxia type 7. (10408582)
1999
45
Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family. (10500272)
1999
46
Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. (10598805)
1999
47
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. (9536097)
1998
48
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. (9425223)
1998
49
An expanded CAG repeat sequence in spinocerebellar ataxia type 7. (8908515)
1996
50
Spinocerebellar Ataxia Type 7 (20301433)
1993

Genetic Variations for Spinocerebellar Ataxia Type 7

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Expression for genes affiliated with Spinocerebellar Ataxia Type 7

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type 7

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

Pathways for genes affiliated with Spinocerebellar Ataxia Type 7

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12EMD Millipore
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Pathways related to Spinocerebellar Ataxia Type 7 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ATXN3, HSPA4
2
Regulation of degradation of wt-CFTR
9.3ATXN3, HSPA4, HSPB1

Compounds for genes affiliated with Spinocerebellar Ataxia Type 7

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44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Spinocerebellar Ataxia Type 7 according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1geranylgeranylacetone449.8HSPB1, HSPA4
2rebamipide449.6HGF, HSPA4
3cdcl2449.6HSPA4, HSPB1
4chlorothalonil449.6PSMC1, HSPA4
5c2ceramide449.3HGF, HSPA4, HSPB1
6buthionine sulfoximine449.3HSPA4, HSPB1
7malondialdehyde449.3HSPB1, HSPA4, HGF
8neomycin449.3HGF, HSPA4, HSPB1
9geldanamycin44 49 59 1112.2HGF, HSPA4, HSPB1
10lactacystin449.2HSPB1, HSPA4, HGF
115fluorouracil449.1HGF, HSPA4, HSPB1
12polyacrylamide449.0HSPB1, HSPA4, ATXN2, ATXN7, ATXN3
13mg 13244 5910.0HSPB1, HSPA4, HGF
14testosterone44 59 11 2410.8HSPA4, HGF, ATXN3, ATN1, ATXN1, CHERP
15glutamine446.6CHERP, HSPB1, HSPA4, HGF, CACNA1A, ATXN2

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 7

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16Gene Ontology
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Cellular components related to Spinocerebellar Ataxia Type 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:0424059.4ATXN1, ATXN3
2nuclear matrixGO:0163639.1ATXN7, ATXN3, ATN1, ATXN1
3nucleusGO:0056347.1HSPA4, CACNA1A, PSMC1, CRX, ATXN2, ATXN7
4cytoplasmGO:0057375.8RELN, HSPB1, HSPA4, CACNA1A, PSMC1, ATXN2

Biological processes related to Spinocerebellar Ataxia Type 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphorylationGO:0423269.8ATXN1, ATXN7
2negative regulation of insulin-like growth factor receptor signaling pathwayGO:0435699.7ATXN7, ATXN1
3cerebellar Purkinje cell differentiationGO:0217029.5ATXN2, CACNA1A
4cell deathGO:0082198.5ATXN1, ATXN3, ATXN7, ATXN2, CACNA1A, HSPB1

Molecular functions related to Spinocerebellar Ataxia Type 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.9ATXN1, ATXN3, HGF, HSPB1
2protein bindingGO:0055155.9CHERP, HSPB1, HGF, CACNA1A, PSMC1, ATXN2

Products for genes affiliated with Spinocerebellar Ataxia Type 7

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Sources for Spinocerebellar Ataxia Type 7

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet