MCID: MTC054
MIFTS: 43

Mitochondrial Dna Depletion Syndrome 7 malady

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

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Sources:
49OMIM, 11diseasecard, 24GTR, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 65UMLS, 10Disease Ontology, 12DISEASES, 51Orphanet, 22GeneTests, 23Genetics Home Reference, 21GeneReviews, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 7:

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


Classifications:



Characteristics (Orphanet epidemiological data):

51
ohaha syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adolescent,early childhood,infantile,late childhood,young Adult


External Ids:

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

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 ohaha syndrome, is related to mitochondrial recessive ataxia syndrome 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), and among its related pathways is Proteolysis_Putative ubiquitin pathway. Affiliated tissues include liver, brain and spinal cord.

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 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 35)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial recessive ataxia syndrome30.5C10orf2, POLG
2spinocerebellar ataxia10.9
3ataxia10.9
4neuropathy10.5
5spinocerebellar ataxia 810.5
6spinocerebellar ataxia, autosomal recessive 810.5
7spinocerebellar ataxia 3110.4
8spinocerebellar ataxia 210.3
9hereditary ataxia10.3
10neuronitis10.3
11hypogonadism10.3
12myopathy10.3
13polyneuropathy10.3
14auditory neuropathy, autosomal dominant, 110.2ATXN8, ATXN8OS
15mitochondrial dna depletion syndrome 110.1
16prickle1-related progressive myoclonus epilepsy with ataxia10.1C10orf2, POLG
17autoimmune addison disease10.1C10orf2, POLG
18cerebellar ataxia10.1
19multiple system atrophy10.1
20machado-joseph disease10.1
21lateral sclerosis10.1
22corticobasal degeneration10.1
23deafness, autosomal dominant 3010.1C10orf2, POLG
24cicatricial ectropion10.0C10orf2, POLG
25adult brain ependymoma10.0C10orf2, POLG
26autosomal recessive juvenile amyotrophic lateral sclerosis9.9C10orf2, POLG, SLC25A4
27ohdo syndrome9.9C10orf2, POLG, SLC25A4
28chronic pulmonary heart disease9.9C10orf2, POLG, SLC25A4
29opiate dependence9.9C10orf2, POLG, SLC25A4
30facioscapulohumeral muscular dystrophy 19.9PDLIM3, SLC25A4
31mitochondrial membrane protein-associated neurodegeneration9.9C10orf2, POLG, SLC25A4
32ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia9.8SACS, SPTBN2
33cerebellar medulloblastoma9.8SACS, SPTBN2
34ataxias and cerebellar or spinocerebellar degeneration9.7ATCAY, SACS, SPTBN2
35mitochondrial dna depletion syndrome 78.6ACTN2, ATCAY, ATXN8, ATXN8OS, C10orf2, PDLIM3

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 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 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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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
2 Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type)24

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

33
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:

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
1ATXN8ATXN8, (CAG)n EXPANSIONNT expansionPathogenic
2C10orf2NM_021830.4(C10orf2): c.1287C> T (p.Ala429=)single nucleotide variantPathogenicrs80356541GRCh37Chr 10, 102749444: 102749444
3C10orf2NM_021830.4(C10orf2): c.1370C> T (p.Thr457Ile)single nucleotide variantPathogenicrs80356544GRCh37Chr 10, 102749527: 102749527
4C10orf2NM_021830.4(C10orf2): c.1523A> G (p.Tyr508Cys)single nucleotide variantPathogenicrs80356540GRCh37Chr 10, 102750231: 102750231
5C10orf2NM_021830.4(C10orf2): c.952G> A (p.Ala318Thr)single nucleotide variantPathogenicrs80356542GRCh37Chr 10, 102748919: 102748919
6C10orf2NM_021830.4(C10orf2): c.1366C> G (p.Leu456Val)single nucleotide variantLikely pathogenicrs386834145GRCh37Chr 10, 102749523: 102749523
7C10orf2NM_021830.4(C10orf2): c.1387C> T (p.Arg463Trp)single nucleotide variantLikely pathogenicrs386834146GRCh37Chr 10, 102749544: 102749544
8C10orf2NM_021830.4(C10orf2): c.247C> T (p.Pro83Ser)single nucleotide variantLikely pathogenicrs386834147GRCh37Chr 10, 102748214: 102748214
9ATXN8OSNR_002717.2(ATXN8OS): n.1103_1105CTG(15_40)NT expansionPathogenic, risk factorrs193922930GRCh37Chr 13, 70713516: 70713518

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ATXN8, C10orf2

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
1mitochondrial nucleoidGO:00426459.7C10orf2, POLG
2mitochondrionGO:00057398.2ATCAY, C10orf2, POLG, SACS, SLC25A4

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial DNA replicationGO:00062649.6C10orf2, POLG
2cellular response to glucose stimulusGO:00713339.3C10orf2, POLG

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.5ACTN2, PDLIM3
2cytoskeletal protein bindingGO:00080929.2ACTN2, PDLIM3

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