IOSCA
MCID: MTC054
MIFTS: 28

Mitochondrial Dna Depletion Syndrome 7 (IOSCA) malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories

Summaries for Mitochondrial Dna Depletion Syndrome 7

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OMIM:46 Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized...271245 more...

MalaCards based summary: 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 hearing impairment, ophthalmoparesis and optic atrophy. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is C10orf2 (chromosome 10 open reading frame 2). Affiliated tissues include brain and liver.

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

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Sources:
46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Mitochondrial Dna Depletion Syndrome 7, Aliases & Descriptions:

Name: Mitochondrial Dna Depletion Syndrome 7 46
Infantile Onset Spinocerebellar Ataxia 48 61
Ohaha Syndrome 48 61
 
Iosca 48 61
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
infantile onset spinocerebellar ataxia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 271245
MESH via Orphanet35 C535523
ICD10 via Orphanet27 G11.1
UMLS via Orphanet62 C1849096

Related Diseases for Mitochondrial Dna Depletion Syndrome 7

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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
5hereditary ataxia10.3
6spinocerebellar ataxia type 510.3
7neuronitis10.3
8hypogonadism10.3
9myopathy10.3
10polyneuropathy10.3

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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Symptoms by clinical synopsis from OMIM:

271245

Clinical features from OMIM:

271245

Symptoms:

 48 (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

HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 7:

(show all 32)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 ophthalmoparesis hallmark (90%) HP:0000597
3 optic atrophy hallmark (90%) HP:0000648
4 reduced tendon reflexes hallmark (90%) HP:0001315
5 incoordination hallmark (90%) HP:0002311
6 abnormality of movement hallmark (90%) HP:0100022
7 elevated hepatic transaminases rare (5%) HP:0002910
8 autosomal recessive inheritance HP:0000007
9 hearing impairment HP:0000365
10 ophthalmoplegia HP:0000602
11 nystagmus HP:0000639
12 optic atrophy HP:0000648
13 psychosis HP:0000709
14 hypergonadotropic hypogonadism HP:0000815
15 poor eye contact HP:0000817
16 intellectual disability HP:0001249
17 ataxia HP:0001251
18 muscular hypotonia HP:0001252
19 somnolence HP:0001262
20 cerebellar atrophy HP:0001272
21 areflexia HP:0001284
22 muscle weakness HP:0001324
23 specific learning disability HP:0001328
24 migraine HP:0002076
25 cerebral cortical atrophy HP:0002120
26 athetosis HP:0002305
27 clumsiness HP:0002312
28 sensory axonal neuropathy HP:0003390
29 progressive disorder HP:0003676
30 loss of ability to walk HP:0006957
31 epilepsia partialis continua HP:0012847
32 epileptic encephalopathy HP:0200134

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 7

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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Dna Depletion Syndrome 7

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 7

Genetic Tests for Mitochondrial Dna Depletion Syndrome 7

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

32
Brain, Liver

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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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

63
id Symbol AA change Variation ID SNP ID
1C10orf2p.Thr457IleVAR_039045
2C10orf2p.Tyr508CysVAR_043797
3C10orf2p.Ala318ThrVAR_065104
4C10orf2p.Leu360GlyVAR_065107
5C10orf2p.Leu456ValVAR_067722

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

7
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
5C10orf2NM_021830.4(C10orf2): c.1366C> G (p.Leu456Val)single nucleotide variantLikely pathogenicrs386834145GRCh37Chr 10, 102749523: 102749523
6C10orf2NM_021830.4(C10orf2): c.1387C> T (p.Arg463Trp)single nucleotide variantLikely pathogenicrs386834146GRCh37Chr 10, 102749544: 102749544
7C10orf2NM_021830.4(C10orf2): c.247C> T (p.Pro83Ser)single nucleotide variantLikely pathogenicrs386834147GRCh37Chr 10, 102748214: 102748214

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

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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
  • Proteins
  • Kits and Assays

Sources for Mitochondrial Dna Depletion Syndrome 7

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet