SCA7
MCID: SPN069
MIFTS: 42

Spinocerebellar Ataxia Type 7 (SCA7) malady

Neuronal, Eye categories

Summaries for Spinocerebellar Ataxia Type 7

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 brain and cerebellum, and related mouse phenotypes are reproductive system and growth/size.

Description from OMIM:47 164500

GeneReviews summary for sca7

Aliases & Classifications for Spinocerebellar Ataxia Type 7

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spinocerebellar ataxia type 7:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spinocerebellar ataxia type 7 19 45 49 61
spinocerebellar ataxia 7 43 20 22 47
olivopontocerebellar atrophy 3 43 61
opca with macular degeneration and external ophthalmoplegia 43
autosomal dominant spinocerebellar ataxia type 7 49
cerebellar syndrome - pigmentary maculopathy 49
autosomal dominant cerebellar ataxia type 2 43
opca with retinal degeneration 43
adca type 2 43
sca 7 19
sca7 49


External Ids:

OMIM47 164500
ICD10 via Orphanet26 G11.8

Related Diseases for Spinocerebellar Ataxia Type 7

Sources:
17GeneCards, 18GeneDecks
See all sources

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 with axonal neuropathy, autosomal recessive
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 with dysmorphism spinocerebellar ataxia 32
spinocerebellar ataxia 36 spinocerebellar ataxia 35
spinocerebellar ataxia with altered vertical eye movements

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 ataxia31.6ATXN1, CACNA1A, ATXN2, ATXN3
2spinocerebellar degeneration30.8CACNA1A, ATXN2, ATXN3, ATXN1, CHERP
3olivopontocerebellar atrophy29.9ATXN2, ATXN3
4ataxia11.1
5cerebellar degeneration10.4
6stargardt disease10.3
7kearns-sayre syndrome10.3
8cone dystrophy10.3
9say syndrome10.3
10spastic paraparesis10.3
11childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia10.3
12autosomal recessive disease10.2
13infantile neuronal ceroid lipofuscinosis10.2
14late-infantile neuronal ceroid lipofuscinosis10.2
15spinocerebellar atrophy10.2
16lip disease10.2
17machado-joseph disease10.0
18hypotonia10.0
19macular dystrophy10.0
20ophthalmoplegia10.0ATXN7
21spinocerebellar ataxia type 310.0ATXN3
22multiple sclerosis10.0HSPB1
23neuropathy10.0CACNA1A
24dementia10.0HSPA4, HSPB1
25amyotrophic lateral sclerosis10.0ATXN2, HSPB1
26retinal degeneration10.0ATXN7, CRX
27multiple system atrophy10.0ATXN1, ATXN3
28motor neuron disease10.0HSPA4, HSPB1
29huntington's disease10.0ATXN3, ATXN1
30myopathy10.0CACNA1A, HSPB1
31alzheimer's disease10.0CHERP, RELN
32cerebellar ataxia10.0CACNA1A, ATXN2, ATXN7, ATXN3
33dysphagia10.0ATXN1, ATXN3
34dentatorubral-pallidoluysian atrophy10.0ATXN2, ATXN3, ATN1, ATXN1
35non-small cell lung carcinoma10.0HGF, HSPA4, HSPB1
36friedreich ataxia10.0CACNA1A, ATXN2, ATXN3, ATXN1
37spinocerebellar ataxia type 1210.0CACNA1A, ATXN2, ATXN7, ATXN3, ATN1, ATXN1
38spinocerebellar ataxia type 1710.0ATN1, ATXN1, ATXN3, ATXN7, CACNA1A, ATXN2
39hereditary ataxia10.0CACNA1A, ATXN2, ATXN7, ATXN3, ATN1, ATXN1
40epilepsy syndrome10.0HSPB1, HSPA4, CACNA1A, ATXN2, RELN

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

164500

Clinical synopsis from OMIM:

164500

Drugs & Therapeutics for Spinocerebellar Ataxia Type 7

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 7:

33
Brain, Cerebellum

Animal Models for Spinocerebellar Ataxia Type 7 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Spinocerebellar Ataxia Type 7

Genetic Variations for Spinocerebellar Ataxia Type 7

Expression for genes affiliated with Spinocerebellar Ataxia Type 7

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
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

Sources:
45Novoseek, 50PharmGKB, 60Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1geranylgeranylacetone459.8HSPB1, HSPA4
2rebamipide459.6HGF, HSPA4
3cdcl2459.6HSPA4, HSPB1
4chlorothalonil459.6PSMC1, HSPA4
5c2ceramide459.3HGF, HSPA4, HSPB1
6buthionine sulfoximine459.3HSPA4, HSPB1
7malondialdehyde459.3HSPB1, HSPA4, HGF
8neomycin459.3HGF, HSPA4, HSPB1
9geldanamycin45 50 60 1112.2HGF, HSPA4, HSPB1
10lactacystin459.2HSPB1, HSPA4, HGF
115fluorouracil459.1HGF, HSPA4, HSPB1
12polyacrylamide459.0HSPB1, HSPA4, ATXN2, ATXN7, ATXN3
13mg 13245 6010.0HSPB1, HSPA4, HGF
14testosterone45 60 11 2410.8HSPA4, HGF, ATXN3, ATN1, ATXN1, CHERP
15glutamine456.6CHERP, HSPB1, HSPA4, HGF, CACNA1A, ATXN2

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 7

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type 7

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet