MCID: MTC054
MIFTS: 36

Mitochondrial Dna Depletion Syndrome 7 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 7:

Name: Mitochondrial Dna Depletion Syndrome 7 49 10 11 67 24
Infantile Onset Spinocerebellar Ataxia 10 45 22 12 51 65
Ohaha Syndrome 10 45 22 23 51 67
Iosca 21 45 22 23 51 67
Infantile-Onset Spinocerebellar Ataxia 21 22 23
Spinocerebellar Ataxia 8 45 67 65
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome 45 51
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 45 23
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 45 67
 
Sca8 45 67
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 45
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type 67
Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis 67
Pure Spinocerebellar Ataxia Japanese Type 67
Spinocerebellar Ataxia Infantile-Onset 67
Sca4 Pure Japanese Type 67
Mtdps7 67

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61
mitochondrial dna depletion syndrome 7:
Onset and clinical course: progressive
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 271245
Disease Ontology10 DOID:0050556, DOID:0080126
Orphanet51 1186
ICD10 via Orphanet28 G11.1
MESH via Orphanet37 C535523
UMLS via Orphanet66 C1849096
MedGen34 C1849096
MeSH36 D020754
UMLS65 C1849096, C1837454

Summaries for Mitochondrial Dna Depletion Syndrome 7

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OMIM:49 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 mitochondrial recessive ataxia syndrome and spinocerebellar ataxia 8, and has symptoms including abnormality of movement, incoordination and reduced tendon reflexes. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is C10orf2 (Chromosome 10 Open Reading Frame 2). Affiliated tissues include brain, liver and cerebellum.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Mitochondrial DNA depletion syndrome 7: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present.

GeneReviews summary for NBK3795

Related Diseases for Mitochondrial Dna Depletion Syndrome 7

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Graphical network of the top 20 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:

 51 (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 30)
id Description Frequency HPO Source Accession
1 abnormality of movement hallmark (90%) HP:0100022
2 incoordination hallmark (90%) HP:0002311
3 reduced tendon reflexes hallmark (90%) HP:0001315
4 optic atrophy hallmark (90%) HP:0000648
5 ophthalmoparesis hallmark (90%) HP:0000597
6 hearing impairment hallmark (90%) HP:0000365
7 elevated hepatic transaminases rare (5%) HP:0002910
8 epileptic encephalopathy HP:0200134
9 epilepsia partialis continua HP:0012847
10 loss of ability to walk HP:0006957
11 sensory axonal neuropathy HP:0003390
12 clumsiness HP:0002312
13 athetosis HP:0002305
14 cerebral cortical atrophy HP:0002120
15 migraine HP:0002076
16 specific learning disability HP:0001328
17 muscle weakness HP:0001324
18 areflexia HP:0001284
19 cerebellar atrophy HP:0001272
20 somnolence HP:0001262
21 muscular hypotonia HP:0001252
22 ataxia HP:0001251
23 intellectual disability HP:0001249
24 poor eye contact HP:0000817
25 hypergonadotropic hypogonadism HP:0000815
26 psychosis HP:0000709
27 optic atrophy HP:0000648
28 nystagmus HP:0000639
29 ophthalmoplegia HP:0000602
30 hearing impairment HP:0000365

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 7:


clumsiness, muscle weakness, ophthalmoplegia, athetosis, ataxia, pyramidal sign, tremor, muscle spasticity

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 7

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Interventional clinical trials:

Search ClinicalTrials, 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 Ataxia22 C10orf2

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

33
Brain, Liver, Cerebellum, Spinal cord, Eye, Lung

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:

67
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:

5
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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GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

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Biological processes related to Mitochondrial Dna Depletion Syndrome 7 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA replicationGO:00062609.5C10orf2, POLG

Sources for Mitochondrial Dna Depletion Syndrome 7

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet