SCA8
MCID: INF010
MIFTS: 41

Infantile Onset Spinocerebellar Ataxia (SCA8) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Infantile Onset Spinocerebellar Ataxia

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Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance.

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:47 271245,608768

GeneReviews summary for sca-io

Aliases & Classifications for Infantile Onset Spinocerebellar Ataxia

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Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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):

49
sca8:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

infantile onset spinocerebellar ataxia 8 43 10 62
spinocerebellar ataxia 8 43 20 22 47 62
infantile-onset spinocerebellar ataxia 19 20 21
ohaha syndrome 8 43 21
iosca 19 43 21
ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis 43 21
sca8 43 49
spinocerebellar ataxia infantile with sensory neuropathy 43
spinocerebellar ataxia type 8 49


External Ids:

Disease Ontology8 DOID:0050556
MESH via Orphanet36 C537307
ICD10 via Orphanet26 G11
UMLS via Orphanet63 C1837454

Related Diseases for Infantile Onset Spinocerebellar Ataxia

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17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Infantile Onset Spinocerebellar Ataxia

Search NIH Clinical Center for Infantile Onset Spinocerebellar Ataxia

Genetic Tests for Infantile Onset Spinocerebellar Ataxia

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20GeneTests, 22GTR
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Genetic tests related to Infantile Onset Spinocerebellar Ataxia:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 820 ATXN8OS
2 Infantile-Onset Spinocerebellar Ataxia20 C10orf2
3 Spinocerebellar Ataxia 822

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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Sources:
52PubMed
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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, 15Gene 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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45Novoseek, 61Tocris Bioscience, 11DrugBank
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Compounds related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1flutamide45 61 1111.5SACS, SHBG

GO Terms for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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Sources:
16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet