SCA7
MCID: SPN069
MIFTS: 62

Spinocerebellar Ataxia Type 7 (SCA7) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Metabolic diseases, Skin diseases categories
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Summaries for Spinocerebellar Ataxia Type 7

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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 based summary: Spinocerebellar Ataxia Type 7, also known as spinocerebellar ataxia 7, is related to spinocerebellar ataxia and retinal degeneration, and has symptoms including 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 deltaF508 CFTR in CF. 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 no phenotypic analysis and reproductive system.

Description from OMIM:46 164500

GeneReviews summary for sca7

Aliases & Classifications for Spinocerebellar Ataxia Type 7

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Spinocerebellar Ataxia Type 7, Aliases & Descriptions:

Name: Spinocerebellar Ataxia Type 7 19 42 44 48 62
Spinocerebellar Ataxia 7 42 20 22 46
Olivopontocerebellar Atrophy 3 42 62
Opca with Retinal Degeneration 42 62
Opca3 42 62
Sca7 42 48
 
Opca with Macular Degeneration and External Ophthalmoplegia 42
Cerebellar Syndrome - Pigmentary Maculopathy 48
Autosomal Dominant Cerebellar Ataxia Type 2 42
Ataxia with Pigmentary Retinopathy 48
Adca Type 2 42
Sca 7 19


Classifications:



Characteristics (Orphanet epidemiological data):

48
spinocerebellar ataxia type 7:
Inheritance: Autosomal dominant


External Ids:

OMIM46 164500
ICD10 via Orphanet26 G11.8
UMLS via Orphanet63 C0752125
ICD1025 R27.0

Related Diseases for Spinocerebellar Ataxia Type 7

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Diseases in the Spinocerebellar Ataxia Type 6 family:

Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia
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 Type 36
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia 35

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.3ATXN1, ATXN3, ATXN2, CACNA1A
2retinal degeneration31.2CRX, ATXN7
3kearns-sayre syndrome31.1ATXN7
4machado-joseph disease30.7ATXN3
5cerebellar degeneration30.5CACNA1A, ATXN2
6olivopontocerebellar atrophy30.4ATXN3, ATXN2
7cerebellar ataxia30.4ATXN7, ATXN3, CACNA1A, ATXN2
8ataxia11.2
9retinitis10.6
10cone-rod dystrophy10.3
11hepatitis10.3
12neuronitis10.3
13cerebellar disease10.3
14spastic paraparesis10.3
15spinocerebellar ataxia autosomal recessive 710.3
16spasticity10.3
17dementia10.2HSPB1, HSPA4
18hepatic encephalopathy10.2CHERP, ATXN3
19neuronal ceroid lipofuscinosis10.2
20late-infantile neuronal ceroid lipofuscinosis10.2
21hepatitis b10.2HSPB1, HSPA4
22huntington's disease10.1ATXN1, ATXN3
23motor neuron disease10.1HSPA4, HSPB1
24dysphagia10.1ATXN3, ATXN1
25gastric ulcer10.1HGF, HSPB1
26parkinson's disease10.0ATXN2, HSPB1, CHERP
27dystonia10.0
28hypotonia10.0
29macular dystrophy10.0
30non-small cell lung carcinoma10.0HSPB1, HSPA4, HGF
31multiple system atrophy10.0ATXN3, ATXN1
32acute kidney failure10.0HSPA4, HGF
33dentatorubral-pallidoluysian atrophy9.9ATXN3, ATXN2, ATN1, ATXN1
34friedreich ataxia9.7ATXN3, ATXN1, ATXN2, CACNA1A
35spinocerebellar degeneration9.6ATXN1, CACNA1A, CHERP, ATXN2, ATXN3
36epilepsy syndrome9.5CACNA1A, ATXN2, HSPA4, HSPB1, RELN
37schizophrenia9.4ATXN1, HSPA4, CACNA1A, RELN, ATN1
38hereditary ataxia9.4CACNA1A, ATN1, ATXN2, ATXN7, ATXN3, ATXN1
39spinocerebellar ataxia type 129.4CACNA1A, ATN1, ATXN2, ATXN7, ATXN3, ATXN1
40spinocerebellar ataxia type 179.4ATN1, ATXN2, ATXN7, ATXN3, ATXN1, CACNA1A

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



Diseases related to spinocerebellar ataxia type 7

Symptoms for Spinocerebellar Ataxia Type 7

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Symptoms by clinical synopsis from OMIM:

164500

Clinical features from OMIM:

164500

HPO human phenotypes related to Spinocerebellar Ataxia Type 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 Type 7

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 7

Search NIH Clinical Center for Spinocerebellar Ataxia Type 7

Genetic Tests for Spinocerebellar Ataxia Type 7

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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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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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MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 7:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.7CACNA1A, HGF, HSPB1, ATN1, ATXN3
2MP:00053897.9CACNA1A, RELN, HSPA4, ATN1, ATXN2, ATXN7
3MP:00053787.2ATXN2, RELN, CACNA1A, HGF, PSMC1, ATN1
4MP:00107686.8PSMC1, ATXN7, ATXN1, HSPA4, RELN, HGF
5MP:00053866.6CRX, ATXN7, PSMC1, RELN, HSPA4, ATN1
6MP:00036316.6CRX, ATXN7, ATXN3, ATXN2, ATN1, HSPA4

Publications for Spinocerebellar Ataxia Type 7

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Articles related to Spinocerebellar Ataxia Type 7:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Olfactory performance in spinocerebellar ataxia type 7 patients. (24629799)
2014
2
RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration. (24759684)
2014
3
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7. (25318446)
2014
4
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. (22915085)
2013
5
Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model. (24160175)
2013
6
Spinocerebellar ataxia type 7: Report of an Indian family. (24339617)
2013
7
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families. (24374739)
2013
8
Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population. (23828024)
2013
9
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. (23236151)
2012
10
Spinocerebellar ataxia type 7: report of a new Italian family. (23064575)
2012
11
Spinocerebellar ataxia type 7. (21827908)
2012
12
Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model. (22827889)
2012
13
Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. (22426494)
2012
14
Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. (21147232)
2011
15
Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. (22072678)
2011
16
Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7. (20739808)
2010
17
Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population. (20819679)
2010
18
Ophthalmic features of spinocerebellar ataxia type 7. (19726937)
2009
19
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. (19726938)
2009
20
Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). (19172503)
2009
21
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. (17720198)
2008
22
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
23
Spinocerebellar ataxia type 7 presenting as Stargardt's disease. (18080847)
2008
24
The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7]. (17650485)
2007
25
Spinocerebellar ataxia type 7 (SCA7): family princeps history, genealogy and geographical distribution. (16791360)
2006
26
Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice. (16297465)
2005
27
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
28
Decreased expression of Hsp27 and Hsp70 in transformed lymphoblastoid cells from patients with spinocerebellar ataxia type 7. (16039988)
2005
29
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. (15750685)
2005
30
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. (14571264)
2004
31
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7. (15316811)
2004
32
A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. (12533095)
2003
33
Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene. (12039035)
2002
34
Spinocerebellar ataxia type 7 without retinal degeneration: a case report. (12172062)
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
Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. (11041330)
2000
42
Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7. (10787310)
2000
43
Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. (11030806)
2000
44
Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. (10556295)
1999
45
Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. (10441328)
1999
46
Maculopathy in spinocerebellar ataxia type 7. (10408582)
1999
47
Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family. (10500272)
1999
48
Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family. (10631650)
1999
49
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. (9425223)
1998
50
Spinocerebellar Ataxia Type 7 (20301433)
1993

Variations for Spinocerebellar Ataxia Type 7

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Expression for genes affiliated with Spinocerebellar Ataxia Type 7

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6HSPA4, ATXN3
2
Show member pathways
9.3HSPB1, HSPA4, ATXN3

Compounds for genes affiliated with Spinocerebellar Ataxia Type 7

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Compounds related to Spinocerebellar Ataxia Type 7 according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1geranylgeranylacetone449.9HSPB1, HSPA4
2rebamipide449.9HSPA4, HGF
3cdcl2449.9HSPB1, HSPA4
4buthionine sulfoximine449.9HSPB1, HSPA4
517-(allylamino)-17-demethoxygeldanamycin449.8HSPB1, HSPA4
6sodium arsenite449.8HSPB1, HSPA4
7retinoid449.7CRX, HGF, HSPB1
8chlorothalonil449.7PSMC1, HSPA4
9c2ceramide449.6HGF, HSPB1, HSPA4
10malondialdehyde449.6HSPA4, HSPB1, HGF
11neomycin449.6HGF, HSPB1, HSPA4
12geldanamycin44 50 61 1112.6HGF, HSPB1, HSPA4
13lactacystin449.6HSPA4, HSPB1, HGF
14mg 13244 6110.6HSPA4, HSPB1, HGF
155fluorouracil449.5HSPA4, HSPB1, HGF
16n acetylcysteine449.5HSPA4, HSPB1, HGF
17ascorbic acid44 2410.5HGF, HSPB1, HSPA4
18indomethacin44 28 61 1112.5HSPA4, HSPB1, HGF
19sb 20358044 6110.5HGF, HSPB1, HSPA4
20methionine449.3HSPA4, HSPB1, RELN
21paclitaxel44 50 1111.2HSPA4, HSPB1, HGF
22doxorubicin44 50 1111.2HGF, HSPB1, HSPA4
23polyacrylamide449.2ATXN3, ATXN7, ATXN2, HSPA4, HSPB1
24pd 98,059449.1HGF, HSPB1, HSPA4
25nmda44 2810.1HGF, RELN, HSPA4
26ly294002448.9HSPA4, HSPB1, HGF
27glutamate448.7HSPA4, RELN, HGF, CACNA1A
28serine448.4HSPA4, HSPB1, RELN, HGF, CACNA1A
29testosterone44 61 24 1111.1ATXN1, ATXN3, ATN1, HSPA4, CHERP, HGF
30glutamine446.8CACNA1A, ATXN1, ATXN3, ATXN7, ATXN2, ATN1

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 7

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

idNameGO IDScoreTop Affiliating Genes
1proteasome complexGO:0005029.5PSMC1, HSPB1
2nuclear matrixGO:0163639.3ATN1, ATXN7, ATXN3, ATXN1
3nucleolusGO:0057308.3ATXN1, ATXN7, ATXN2, ATN1, PSMC1
4nucleusGO:0056347.4ATXN1, ATXN7, ATXN2, ATN1, HSPB1, PSMC1
5cytoplasmGO:0057376.2ATXN1, ATXN3, ATXN7, ATXN2, ATN1, HSPB1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.0ATXN1, ATXN7
2negative regulation of phosphorylationGO:0423269.9ATXN7, ATXN1
3cerebellar Purkinje cell differentiationGO:0217029.9CACNA1A, ATXN2
4positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.5HGF, RELN
5response to unfolded proteinGO:0069869.3HSPA4, HSPB1
6RNA metabolic processGO:0160709.2PSMC1, HSPB1, ATXN2
7positive regulation of transcription from RNA polymerase II promoterGO:0459449.2ATXN1, ATXN7, HGF, CRX
8transcription, DNA-templatedGO:0063518.9ATXN1, ATXN3, ATXN7, ATN1, CRX
9cell deathGO:0082198.6CACNA1A, HSPB1, ATXN2, ATXN7, ATXN3, ATXN1

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.0HGF, HSPB1, ATXN3, ATXN1
2protein bindingGO:0055156.0CACNA1A, ATXN1, ATXN3, ATXN7, ATXN2, ATN1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet