SCA7
MCID: SPN069
MIFTS: 45

Spinocerebellar Ataxia Type 7 (SCA7) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Skin diseases, Muscle diseases categories

Summaries for Spinocerebellar Ataxia Type 7

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44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 ataxia. An important gene associated with Spinocerebellar Ataxia Type 7 is ATXN7 (ataxin 7). Affiliated tissues include eye, brain and cerebellum.

Description from OMIM:48 164500

GeneReviews summary for sca7

Aliases & Classifications for Spinocerebellar Ataxia Type 7

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
spinocerebellar ataxia type 7:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 7 20 44 46 50 63
spinocerebellar ataxia 7 44 21 23 48
olivopontocerebellar atrophy 3 44 63
sca7 44 50
opca with macular degeneration and external ophthalmoplegia 44
autosomal dominant spinocerebellar ataxia type 7 50
cerebellar syndrome - pigmentary maculopathy 50
autosomal dominant cerebellar ataxia type 2 44
opca with retinal degeneration 44
adca type 2 44
opca3 44
sca 7 20


External Ids:

UMLS via Orphanet64 C0752125
OMIM48 164500
ICD10 via Orphanet27 G11.8

Related Diseases for Spinocerebellar Ataxia Type 7

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18GeneCards, 19GeneDecks
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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 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 5
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia Type 37

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

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia11.1
2ataxia11.1
3retinitis10.5
4neuronitis10.4
5cerebellar ataxia10.4
6retinal degeneration10.4
7kearns-sayre syndrome10.3
8cone-rod dystrophy10.3
9cerebellar disease10.3
10hepatitis10.3
11spastic paraparesis10.3
12spasticity10.3
13spinocerebellar ataxia, autosomal recessive 710.3
14neuronal ceroid lipofuscinosis10.2
15cerebellar degeneration10.2
16late-infantile neuronal ceroid lipofuscinosis10.2
17machado-joseph disease10.0
18olivopontocerebellar atrophy10.0
19dystonia10.0
20hypotonia10.0
21macular dystrophy10.0

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

164500

Clinical features from OMIM:

164500

Drugs & Therapeutics for Spinocerebellar Ataxia Type 7

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Spinocerebellar Ataxia Type 7:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 721 ATXN7
2 Spinocerebellar Ataxia 723

Anatomical Context for Spinocerebellar Ataxia Type 7

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34MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 7:

34
Eye, Brain, Cerebellum

Animal Models for Spinocerebellar Ataxia Type 7 or affiliated genes

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Publications for Spinocerebellar Ataxia Type 7

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53PubMed
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Articles related to Spinocerebellar Ataxia Type 7:

(show top 50)    (show all 58)
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
Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population. (23828024)
2013
6
Disruption of visual and motor connectivity in spinocerebellar ataxia type 7. (23926060)
2013
7
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. (23236151)
2012
8
Spinocerebellar ataxia type 7: report of a new Italian family. (23064575)
2012
9
Spinocerebellar ataxia type 7. (21827908)
2012
10
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
11
Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. (22426494)
2012
12
Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. (21147232)
2011
13
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
14
Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7. (20739808)
2010
15
Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population. (20819679)
2010
16
Ophthalmic features of spinocerebellar ataxia type 7. (19726937)
2009
17
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. (19726938)
2009
18
Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). (19172503)
2009
19
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. (17720198)
2008
20
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
21
Spinocerebellar ataxia type 7 presenting as Stargardt's disease. (18080847)
2008
22
The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7]. (17650485)
2007
23
Spinocerebellar ataxia type 7 (SCA7): family princeps history, genealogy and geographical distribution. (16791360)
2006
24
Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice. (16297465)
2005
25
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
26
Decreased expression of Hsp27 and Hsp70 in transformed lymphoblastoid cells from patients with spinocerebellar ataxia type 7. (16039988)
2005
27
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. (15750685)
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
Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene. (12039035)
2002
32
Spinocerebellar ataxia type 7 without retinal degeneration: a case report. (12172062)
2002
33
Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. (11354830)
2001
34
Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation. (11168877)
2001
35
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. (11697534)
2001
36
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. (11709544)
2001
37
Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. (11409434)
2001
38
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. (11175279)
2000
39
Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. (11041330)
2000
40
Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7. (10787310)
2000
41
Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. (11030806)
2000
42
The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families. (10705940)
2000
43
Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. (10556295)
1999
44
Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. (10441328)
1999
45
Maculopathy in spinocerebellar ataxia type 7. (10408582)
1999
46
Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family. (10500272)
1999
47
Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family. (10631650)
1999
48
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. (9536097)
1998
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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2BioGPS, 16Gene 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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Compounds for genes affiliated with Spinocerebellar Ataxia Type 7

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GO Terms for genes affiliated with Spinocerebellar Ataxia Type 7

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Products for genes affiliated with Spinocerebellar Ataxia Type 7

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Sources for Spinocerebellar Ataxia Type 7

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet