SCA8
MCID: INF010
MIFTS: 43

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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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 based summary: Infantile Onset Spinocerebellar Ataxia, also known as spinocerebellar ataxia 8, is related to spinocerebellar ataxia and neuropathy, and has symptoms including 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.

Descriptions from OMIM:46 271245,608768

GeneReviews summary for sca-io

Aliases & Classifications for Infantile Onset Spinocerebellar Ataxia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 62UMLS, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 48Orphanet, 22GTR, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
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Infantile Onset Spinocerebellar Ataxia, Aliases & Descriptions:

Name: Infantile Onset Spinocerebellar Ataxia 8 42 10 62
Spinocerebellar Ataxia 8 42 20 22 46 62
Infantile-Onset Spinocerebellar Ataxia 19 20 21
Ohaha Syndrome 8 42 21
Iosca 19 42 21
 
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 42 21
Sca8 42 48
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 42
Spinocerebellar Ataxia Type 8 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
sca8:
Inheritance: Autosomal dominant; Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:0050556
ICD10 via Orphanet26 G11
UMLS via Orphanet63 C1837454
MESH via Orphanet35 C537307

Related Diseases for Infantile Onset Spinocerebellar Ataxia

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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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Symptoms by clinical synopsis from OMIM:

608768

Clinical features from OMIM:

271245,608768

HPO human phenotypes related to Infantile Onset Spinocerebellar Ataxia:

(show all 15)
id Description Frequency HPO Source Accession
1 sensory neuropathy rare (5%) HP:0000763
2 autosomal dominant inheritance HP:0000006
3 slow saccadic eye movements HP:0000514
4 nystagmus HP:0000639
5 dysmetric saccades HP:0000641
6 spasticity HP:0001257
7 dysarthria HP:0001260
8 cerebellar atrophy HP:0001272
9 tremor HP:0001337
10 dysphagia HP:0002015
11 morphological abnormality of the pyramidal tract HP:0002062
12 progressive cerebellar ataxia HP:0002073
13 incoordination HP:0002311
14 impaired smooth pursuit HP:0007772
15 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Infantile Onset Spinocerebellar Ataxia

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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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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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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
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy. (24816431)
2014
3
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
4
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. (23047744)
2013
5
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. (22928142)
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

Variations for Infantile Onset Spinocerebellar Ataxia

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Clinvar genetic disease variations for Infantile Onset Spinocerebellar Ataxia:

6
id Gene Name Type Significance SNP ID Assembly Location
1ATXN8ATXN8, (CAG)n EXPANSIONNT expansionPathogenic

Expression for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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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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Compounds related to Infantile Onset Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1flutamide44 61 1111.5SACS, SHBG

GO Terms for genes affiliated with Infantile Onset Spinocerebellar Ataxia

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet