MCID: MTC054
MIFTS: 38

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 50 11 13 68 25 12
Infantile Onset Spinocerebellar Ataxia 11 46 23 13 52 66
Ohaha Syndrome 11 46 23 24 52 68
Iosca 22 46 23 24 52 68
Infantile-Onset Spinocerebellar Ataxia 22 23 24
Spinocerebellar Ataxia 8 46 68 66
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome 46 52
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 46 24
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 46 68
 
Sca8 46 68
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 46
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type 68
Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis 68
Pure Spinocerebellar Ataxia Japanese Type 68
Spinocerebellar Ataxia Infantile-Onset 68
Sca4 Pure Japanese Type 68
Mtdps7 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
mitochondrial dna depletion syndrome 7:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 271245
Disease Ontology11 DOID:0050556, DOID:0080126
Orphanet52 ORPHA1186
ICD10 via Orphanet29 G11.1
MESH via Orphanet38 C535523
UMLS via Orphanet67 C1849096
MedGen35 C1849096
MeSH37 D020754

Summaries for Mitochondrial Dna Depletion Syndrome 7

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OMIM:50 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 spinocerebellar ataxia 31, 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 liver, brain and spinal cord.

Genetics Home Reference:24 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:68 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 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:

 52 (show all 7)
  • hearing impairment
  • ophthalmoplegia
  • optic atrophy
  • ataxia
  • reduced tendon reflexes
  • abnormality of the autonomic nervous system
  • abnormality of movement

HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 7:

(show all 30)
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 hearing impairment HP:0000365
9 ophthalmoplegia HP:0000602
10 nystagmus HP:0000639
11 optic atrophy HP:0000648
12 psychosis HP:0000709
13 hypergonadotropic hypogonadism HP:0000815
14 poor eye contact HP:0000817
15 intellectual disability HP:0001249
16 ataxia HP:0001251
17 muscular hypotonia HP:0001252
18 somnolence HP:0001262
19 cerebellar atrophy HP:0001272
20 areflexia HP:0001284
21 muscle weakness HP:0001324
22 specific learning disability HP:0001328
23 migraine HP:0002076
24 cerebral cortical atrophy HP:0002120
25 athetosis HP:0002305
26 clumsiness HP:0002312
27 sensory axonal neuropathy HP:0003390
28 loss of ability to walk HP:0006957
29 epilepsia partialis continua HP:0012847
30 epileptic encephalopathy HP:0200134

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 7:


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

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 7

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type)25
2 Infantile-Onset Spinocerebellar Ataxia23 C10orf2

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

34
Liver, Brain, Spinal cord, Cerebellum, 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:

68
id Symbol AA change Variation ID SNP ID
1C10orf2p.Thr457IleVAR_039045rs80356544
2C10orf2p.Tyr508CysVAR_043797rs80356540
3C10orf2p.Ala318ThrVAR_065104rs80356542
4C10orf2p.Leu360GlyVAR_065107
5C10orf2p.Leu456ValVAR_067722rs386834145

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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Cellular components related to Mitochondrial Dna Depletion Syndrome 7 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:00300189.7ACTN2, PDLIM3
2mitochondrionGO:00057398.2ATCAY, C10orf2, SACS, SLC25A4

Molecular functions related to Mitochondrial Dna Depletion Syndrome 7 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.4ACTN2, PDLIM3
2cytoskeletal protein bindingGO:00080929.1ACTN2, PDLIM3

Sources for Mitochondrial Dna Depletion Syndrome 7

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet