IOSCA
MCID: MTC054
MIFTS: 19

Mitochondrial Dna Depletion Syndrome 7 (IOSCA) malady

Neuronal, Metabolic categories

Summaries for Mitochondrial Dna Depletion Syndrome 7

Sources:
47OMIM, 33MalaCards
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MalaCards: Mitochondrial Dna Depletion Syndrome 7, also known as infantile onset spinocerebellar ataxia, is related to infantile onset spinocerebellar ataxia and spinocerebellar ataxia, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and hearing loss/hypoacusia/deafness. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is C10orf2 (chromosome 10 open reading frame 2). Affiliated tissues include brain and liver.

Description from OMIM:47 271245

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

Sources:
47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
infantile onset spinocerebellar ataxia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mitochondrial dna depletion syndrome 7 47
infantile onset spinocerebellar ataxia 49 61
ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis 49
ohaha syndrome 49
iosca 49


External Ids:

OMIM47 271245
MESH via Orphanet36 C535523
ICD10 via Orphanet26 G11.1
UMLS via Orphanet62 C1849096

Related Diseases for Mitochondrial Dna Depletion Syndrome 7

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Mitochondrial Dna Depletion Syndrome 7 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1infantile onset spinocerebellar ataxia11.0
2spinocerebellar ataxia10.9
3ataxia10.9
4n syndrome10.3
5hereditary ataxia10.3

Graphical network of diseases related to Mitochondrial Dna Depletion Syndrome 7:



Diseases related to mitochondrial dna depletion syndrome 7

Clinical Features for Mitochondrial Dna Depletion Syndrome 7

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

271245

Clinical synopsis from OMIM:

271245

Symptoms:

49 (show all 7)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hearing loss/hypoacusia/deafness
  • functional anomalies of the nervous system
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • areflexia/hyporeflexia

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 7

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

Search CenterWatch for Mitochondrial Dna Depletion Syndrome 7

Drug clinical trials:

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Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 7

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Genetic Tests for Mitochondrial Dna Depletion Syndrome 7

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

Sources:
33MalaCards
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 7:

33
Brain, Liver

Animal Models for Mitochondrial Dna Depletion Syndrome 7 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mitochondrial Dna Depletion Syndrome 7

Genetic Variations for Mitochondrial Dna Depletion Syndrome 7

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

63 (show all 15)
id Symbol AA change Variation SNP ID
1C10orf2p.Thr457IleVAR_039045
2C10orf2p.Thr457IleVAR_039045
3C10orf2p.Thr457IleVAR_039045
4C10orf2p.Tyr508CysVAR_043797
5C10orf2p.Tyr508CysVAR_043797
6C10orf2p.Tyr508CysVAR_043797
7C10orf2p.Ala318ThrVAR_065104
8C10orf2p.Ala318ThrVAR_065104
9C10orf2p.Ala318ThrVAR_065104
10C10orf2p.Leu360GlyVAR_065107
11C10orf2p.Leu360GlyVAR_065107
12C10orf2p.Leu360GlyVAR_065107
13C10orf2p.Leu456ValVAR_067722
14C10orf2p.Leu456ValVAR_067722
15C10orf2p.Leu456ValVAR_067722

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 7.

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

Products for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Dna Depletion Syndrome 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