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 51 11 69 26 12 13
Infantile Onset Spinocerebellar Ataxia 11 47 24 53 13 67
Ohaha Syndrome 11 47 24 25 53 69
Iosca 23 47 24 25 53 69
Infantile-Onset Spinocerebellar Ataxia 23 24 25
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome 47 53
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 47 25
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 47 69
Spinocerebellar Ataxia 8 69 67
 
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 47
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type 69
Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis 69
Pure Spinocerebellar Ataxia Japanese Type 69
Spinocerebellar Ataxia Infantile-Onset 69
Sca4 Pure Japanese Type 69
Mtdps7 69
Sca8 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
mitochondrial dna depletion syndrome 7:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive

GeneReviews:

23
Penetrance: penetrance is complete in both homozygotes and compound heterozygotes...


Classifications:



External Ids:

OMIM51 271245
Disease Ontology11 DOID:0050556, DOID:0080126
Orphanet53 ORPHA1186
ICD10 via Orphanet30 G11.1
MESH via Orphanet39 C535523
UMLS via Orphanet68 C1849096
MedGen36 C1849096
MeSH38 D020754

Summaries for Mitochondrial Dna Depletion Syndrome 7

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OMIM:51 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 TWNK (Twinkle MtDNA Helicase). Affiliated tissues include liver, brain and spinal cord.

Genetics Home Reference:25 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:69 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 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

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 7:

 63 53 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000365
2 ophthalmoparesis63 hallmark (90%) HP:0000597
3 optic atrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0000648
4 reduced tendon reflexes63 53 hallmark (90%) Very frequent (99-80%) HP:0001315
5 incoordination63 hallmark (90%) HP:0002311
6 abnormality of movement63 53 hallmark (90%) Very frequent (99-80%) HP:0100022
7 elevated hepatic transaminases63 rare (5%) HP:0002910
8 ophthalmoplegia63 53 Very frequent (99-80%) HP:0000602
9 nystagmus63 HP:0000639
10 psychosis63 HP:0000709
11 hypergonadotropic hypogonadism63 HP:0000815
12 poor eye contact63 HP:0000817
13 intellectual disability63 HP:0001249
14 ataxia63 53 Very frequent (99-80%) HP:0001251
15 muscular hypotonia63 HP:0001252
16 somnolence63 HP:0001262
17 cerebellar atrophy63 HP:0001272
18 areflexia63 HP:0001284
19 muscle weakness63 HP:0001324
20 specific learning disability63 HP:0001328
21 migraine63 HP:0002076
22 cerebral cortical atrophy63 HP:0002120
23 athetosis63 HP:0002305
24 clumsiness63 HP:0002312
25 sensory axonal neuropathy63 HP:0003390
26 loss of ability to walk63 HP:0006957
27 epilepsia partialis continua63 HP:0012847
28 epileptic encephalopathy63 HP:0200134
29 abnormality of the autonomic nervous system53 Very frequent (99-80%)

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)26
2 Infantile-Onset Spinocerebellar Ataxia24 TWNK

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

35
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:

69
id Symbol AA change Variation ID SNP ID
1TWNKp.Thr457IleVAR_039045rs80356544
2TWNKp.Tyr508CysVAR_043797rs80356540
3TWNKp.Ala318ThrVAR_065104rs80356542
4TWNKp.Leu360GlyVAR_065107
5TWNKp.Leu456ValVAR_067722rs386834145

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1ATXN8ATXN8, (CAG)n EXPANSIONNT expansionPathogenicChr na, -1: -1
2TWNKNM_021830.4(TWNK): c.1287C> T (p.Ala429=)SNVPathogenicrs80356541GRCh37Chr 10, 102749444: 102749444
3TWNKNM_021830.4(TWNK): c.333delT (p.Leu112Serfs)deletionPathogenicrs886037832GRCh37Chr 10, 102748300: 102748300
4TWNKNM_021830.4(TWNK): c.904C> T (p.Arg302Trp)SNVLikely pathogenicrs374997012GRCh37Chr 10, 102748871: 102748871
5TWNKNM_021830.4(TWNK): c.1370C> T (p.Thr457Ile)SNVPathogenicrs80356544GRCh37Chr 10, 102749527: 102749527
6TWNKNM_021830.4(TWNK): c.1523A> G (p.Tyr508Cys)SNVPathogenicrs80356540GRCh37Chr 10, 102750231: 102750231
7TWNKNM_021830.4(TWNK): c.952G> A (p.Ala318Thr)SNVPathogenicrs80356542GRCh37Chr 10, 102748919: 102748919
8TWNKNM_021830.4(TWNK): c.1366C> G (p.Leu456Val)SNVLikely pathogenicrs386834145GRCh37Chr 10, 102749523: 102749523
9TWNKNM_021830.4(TWNK): c.1387C> T (p.Arg463Trp)SNVLikely pathogenicrs386834146GRCh37Chr 10, 102749544: 102749544
10TWNKNM_021830.4(TWNK): c.247C> T (p.Pro83Ser)SNVLikely pathogenicrs386834147GRCh37Chr 10, 102748214: 102748214
11ATXN8OSNR_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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GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 7

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:00080929.3ACTN2, PDLIM3
2structural constituent of muscleGO:00083079.1ACTN2, PDLIM3
3structural constituent of cytoskeletonGO:00052009.1INA, SPTBN2

Sources for Mitochondrial Dna Depletion Syndrome 7

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet