MCID: MTC054
MIFTS: 33

Mitochondrial Dna Depletion Syndrome 7 malady

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

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Sources:
45OMIM, 10diseasecard, 22GTR, 41NIH Rare Diseases, 60UMLS, 9Disease Ontology, 11DISEASES, 47Orphanet, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Mitochondrial Dna Depletion Syndrome 7, Aliases & Descriptions:

Name: Mitochondrial Dna Depletion Syndrome 7 45 10 22
Infantile Onset Spinocerebellar Ataxia 9 41 11 47 60
Ohaha Syndrome 9 41 21 47
Iosca 19 41 21 47
Infantile-Onset Spinocerebellar Ataxia 19 20 21
 
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 41 47
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 41 21
Spinocerebellar Ataxia 8 41 60
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 41
Sca8 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
infantile onset spinocerebellar ataxia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adolescent,early childhood,infantile,late childhood,young Adult


External Ids:

OMIM45 271245
Disease Ontology9 DOID:0050556
Orphanet47 1186
MESH via Orphanet34 C535523
ICD10 via Orphanet26 G11.1
UMLS via Orphanet61 C1849096

Summaries for Mitochondrial Dna Depletion Syndrome 7

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OMIM:45 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 spinocerebellar ataxia 8 and neuropathy, 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, liver and eye.

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.

GeneReviews summary for sca-io

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 Suite gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 810.7
2neuropathy10.5
3spinocerebellar ataxia, autosomal recessive 810.5
4spinocerebellar ataxia10.5
5ataxia10.5
6spinocerebellar ataxia 210.3
7mitochondrial recessive ataxia syndrome10.3
8hereditary ataxia10.3
9neuronitis10.3
10hypogonadism10.3
11myopathy10.3
12polyneuropathy10.3
13machado-joseph disease10.0
14multiple system atrophy10.0
15cerebellar ataxia10.0
16lateral sclerosis10.0
17corticobasal degeneration10.0

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:

 47 (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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Genetic tests related to Mitochondrial Dna Depletion Syndrome 7:

id Genetic test Affiliating Genes
1 Infantile-Onset Spinocerebellar Ataxia20 C10orf2
2 Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type)22

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

31
Brain, Liver, Eye

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:

62
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:

6
id Gene Variation 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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet