SCA8
MCID: INF010
MIFTS: 36

Infantile Onset Spinocerebellar Ataxia (SCA8) malady

Neuronal category

Summaries for Infantile Onset Spinocerebellar Ataxia

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 ataxia. An important gene associated with Infantile Onset Spinocerebellar Ataxia is ATXN8 (ataxin 8). 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

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 49Orphanet, 22GTR, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

infantile onset spinocerebellar ataxia 8 43 10 61
spinocerebellar ataxia 8 43 20 22 47 61
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 type 8 49


External Ids:

Disease Ontology8 DOID:0050556
MESH via Orphanet36 C537307
ICD10 via Orphanet26 G11
UMLS via Orphanet62 C1837454

Related Diseases for Infantile Onset Spinocerebellar Ataxia

Sources:
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

Clinical Features for Infantile Onset Spinocerebellar Ataxia

Sources:
47OMIM
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Clinical features from OMIM:

271245,608768

Clinical synopsis from OMIM:

608768

Drugs & Therapeutics for Infantile Onset Spinocerebellar Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
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

Animal Models for Infantile Onset Spinocerebellar Ataxia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Infantile Onset Spinocerebellar Ataxia

Sources:
51PubMed
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Articles related to Infantile Onset Spinocerebellar Ataxia:

(show all 17)
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
Infantile childhood onset of spinocerebellar ataxia type 2. (21975856)
2012
6
Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. (22353293)
2012
7
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. (18775955)
2008
8
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. (16135556)
2005
9
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
10
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. (9879682)
1998
11
Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. (8889554)
1996
12
Primary hypogonadism in females with infantile onset spinocerebellar ataxia. (8552218)
1995
13
Infantile-onset spinocerebellar ataxia: MR and CT findings. (7484627)
1995
14
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. (8133312)
1994
15
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). (8159181)
1994
16
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. (7877879)
1994
17
Infantile-Onset Spinocerebellar Ataxia (20301746)
1993

Genetic Variations for Infantile Onset Spinocerebellar Ataxia

Expression for genes affiliated with Infantile Onset Spinocerebellar Ataxia

Sources:
1BioGPS, 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

Compounds for genes affiliated with Infantile Onset Spinocerebellar Ataxia

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank
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Compounds related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1flutamide45 60 1111.3SHBG, SACS

GO Terms for genes affiliated with Infantile Onset Spinocerebellar Ataxia

Sources:
16Gene Ontology
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Cellular components related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.2ACTN2, PDLIM3

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.2ATXN8, SACS, C10orf2

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:0080929.2ACTN2, PDLIM3
2structural constituent of muscleGO:0083078.9ACTN2, PDLIM3

Products for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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Sources for Infantile Onset Spinocerebellar Ataxia

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