IOSCA
MCID: MTC054
MIFTS: 26

Mitochondrial Dna Depletion Syndrome 7 (IOSCA) malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Mitochondrial Dna Depletion Syndrome 7

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48OMIM, 34MalaCards
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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 ataxia/incoordination/trouble of the equilibrium, hearing loss/hypoacusia/deafness and optic nerve anomaly/optic atrophy/anomaly of the papilla. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is C10orf2 (chromosome 10 open reading frame 2). Affiliated tissues include liver and brain.

Description from OMIM:48 271245

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

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Sources:
50Orphanet, 63UMLS, 48OMIM, 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
infantile onset spinocerebellar ataxia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mitochondrial dna depletion syndrome 7 48
infantile onset spinocerebellar ataxia 50 63
ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis 50
ohaha syndrome 50
iosca 50


External Ids:

OMIM48 271245
MESH via Orphanet37 C535523
ICD10 via Orphanet27 G11.1
UMLS via Orphanet64 C1849096

Related Diseases for Mitochondrial Dna Depletion Syndrome 7

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18GeneCards, 19GeneDecks
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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
4neuropathy10.5
5neuronitis10.3
6hypogonadism10.3
7hereditary ataxia10.3

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



Diseases related to mitochondrial dna depletion syndrome 7

Symptoms for Mitochondrial Dna Depletion Syndrome 7

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

271245

Clinical features from OMIM:

271245

Symptoms:

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

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 7

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

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Drug clinical trials:

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Genetic Tests for Mitochondrial Dna Depletion Syndrome 7

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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34MalaCards
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 7:

34
Liver, Brain

Animal Models for Mitochondrial Dna Depletion Syndrome 7 or affiliated genes

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Publications for Mitochondrial Dna Depletion Syndrome 7

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Variations for Mitochondrial Dna Depletion Syndrome 7

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

65 (show all 15)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

1
id Gene Name Type Significance SNP ID Assembly Location
1C10orf2NM_021830.4(C10orf2): c.1287C> T (p.Ala429=)single nucleotide variantPathogenicrs80356541GRCh37Chr 10, 102749444: 102749444
2C10orf2NM_021830.4(C10orf2): c.1370C> T (p.Thr457Ile)single nucleotide variantPathogenicrs80356544GRCh37Chr 10, 102749527: 102749527
3C10orf2NM_021830.4(C10orf2): c.1523A> G (p.Tyr508Cys)single nucleotide variantPathogenicrs80356540GRCh37Chr 10, 102750231: 102750231
4C10orf2NM_021830.4(C10orf2): c.952G> A (p.Ala318Thr)single nucleotide variantPathogenicrs80356542GRCh37Chr 10, 102748919: 102748919

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

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Sources:
2BioGPS, 16Gene 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

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Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

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GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

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Products for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Dna Depletion Syndrome 7

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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