SCA8
MCID: INF010
MIFTS: 41

Infantile Onset Spinocerebellar Ataxia (SCA8) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Infantile Onset Spinocerebellar Ataxia

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Sources:
48OMIM, 20GeneReviews, 34MalaCards
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MalaCards: Infantile Onset Spinocerebellar Ataxia, also known as spinocerebellar ataxia 8, is related to spinocerebellar ataxia and neuropathy. An important gene associated with Infantile Onset Spinocerebellar Ataxia is ATXN8OS (ATXN8 opposite strand (non-protein coding)). The compound flutamide have been mentioned in the context of this disorder.

Description from OMIM:48 271245,608768

GeneReviews summary for sca-io

Aliases & Classifications for Infantile Onset Spinocerebellar Ataxia

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Sources:
9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
sca8:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

infantile onset spinocerebellar ataxia 9 44 11 63
spinocerebellar ataxia 8 44 21 23 48 63
infantile-onset spinocerebellar ataxia 20 21 22
ohaha syndrome 9 44 22
iosca 20 44 22
ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis 44 22
sca8 44 50
spinocerebellar ataxia infantile with sensory neuropathy 44
spinocerebellar ataxia type 8 50


External Ids:

Disease Ontology9 DOID:0050556
MESH via Orphanet37 C537307
ICD10 via Orphanet27 G11
UMLS via Orphanet64 C1837454

Related Diseases for Infantile Onset Spinocerebellar Ataxia

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Infantile Onset Spinocerebellar Ataxia:



Diseases related to infantile onset spinocerebellar ataxia

Symptoms for Infantile Onset Spinocerebellar Ataxia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

608768

Clinical features from OMIM:

271245,608768

Drugs & Therapeutics for Infantile Onset Spinocerebellar Ataxia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Infantile Onset Spinocerebellar Ataxia

Drug clinical trials:

Search ClinicalTrials for Infantile Onset Spinocerebellar Ataxia

Search NIH Clinical Center for Infantile Onset Spinocerebellar Ataxia

Search CenterWatch for Infantile Onset Spinocerebellar Ataxia

Genetic Tests for Infantile Onset Spinocerebellar Ataxia

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21GeneTests, 23GTR
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Genetic tests related to Infantile Onset Spinocerebellar Ataxia:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 821 ATXN8OS
2 Infantile-Onset Spinocerebellar Ataxia21 C10orf2
3 Spinocerebellar Ataxia 823

Anatomical Context for Infantile Onset Spinocerebellar Ataxia

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Animal Models for Infantile Onset Spinocerebellar Ataxia or affiliated genes

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Publications for Infantile Onset Spinocerebellar Ataxia

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53PubMed
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Articles related to Infantile Onset Spinocerebellar Ataxia:

(show all 16)
idTitleAuthorsYear
1
Infantile Onset Spinocerebellar Ataxia 2 (SCA2): A Clinical Report With Review of Previous Cases. (24300164)
2014
2
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
3
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. (23047744)
2013
4
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. (22928142)
2012
5
Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. (22353293)
2012
6
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. (18775955)
2008
7
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. (16135556)
2005
8
cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia. (12459258)
2002
9
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. (9879682)
1998
10
Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. (8889554)
1996
11
Primary hypogonadism in females with infantile onset spinocerebellar ataxia. (8552218)
1995
12
Infantile-onset spinocerebellar ataxia: MR and CT findings. (7484627)
1995
13
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. (8133312)
1994
14
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). (8159181)
1994
15
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. (7877879)
1994
16
Infantile-Onset Spinocerebellar Ataxia (20301746)
1993

Variations for Infantile Onset Spinocerebellar Ataxia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Infantile Onset Spinocerebellar Ataxia:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATXN8ATXN8, (CAG)n EXPANSIONNT expansionPathogenic/card/infantile_onset_spinocerebellar_ataxia

Expression for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Infantile Onset Spinocerebellar Ataxia

Search GEO for disease gene expression data for Infantile Onset Spinocerebellar Ataxia.

Pathways for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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Compounds for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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46Novoseek, 62Tocris Bioscience, 12DrugBank
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Compounds related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1flutamide46 62 1211.5SACS, SHBG

GO Terms for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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17Gene Ontology
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Cellular components related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.6SACS, ATCAY
2Z discGO:0300189.1PDLIM3, ACTN2

Biological processes related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082198.5SACS, ATXN8, C10orf2, SPTBN2

Molecular functions related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:0080929.4PDLIM3, ACTN2
2structural constituent of muscleGO:0083079.1PDLIM3, ACTN2

Products for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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Sources for Infantile Onset Spinocerebellar Ataxia

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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