MTDPS7
MCID: MTC054
MIFTS: 38

Mitochondrial Dna Depletion Syndrome 7 (MTDPS7) 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 52 11 70 27 12 13
Infantile Onset Spinocerebellar Ataxia 11 48 24 54 13 68
Ohaha Syndrome 11 48 24 25 54 70
Iosca 23 48 24 25 54 70
Infantile-Onset Spinocerebellar Ataxia 23 24 25
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome 48 54
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 48 25
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 48 70
Spinocerebellar Ataxia 8 70 68
 
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 48
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type 70
Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis 70
Pure Spinocerebellar Ataxia Japanese Type 70
Spinocerebellar Ataxia Infantile-Onset 70
Sca4 Pure Japanese Type 70
Mtdps7 70
Sca8 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 271245
Disease Ontology11 DOID:0050556, DOID:0080126
Orphanet54 ORPHA1186
ICD10 via Orphanet31 G11.1
MESH via Orphanet40 C535523
UMLS via Orphanet69 C1849096
MedGen37 C1849096
MeSH39 D020754

Summaries for Mitochondrial Dna Depletion Syndrome 7

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OMIM:52 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 muscle spasticity, tremor and abnormal pyramidal signs. 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:70 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 the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 7:



Diseases related to mitochondrial dna depletion syndrome 7

Symptoms & Phenotypes 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:

 54 64 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Very frequent (99-80%) HP:0000365
2 ophthalmoplegia64 54 Very frequent (99-80%) HP:0000602
3 optic atrophy64 54 Very frequent (99-80%) HP:0000648
4 ataxia64 54 Very frequent (99-80%) HP:0001251
5 reduced tendon reflexes64 54 Very frequent (99-80%) HP:0001315
6 abnormality of the autonomic nervous system64 54 Very frequent (99-80%) HP:0002270
7 abnormality of movement64 54 Very frequent (99-80%) HP:0100022
8 nystagmus64 HP:0000639
9 psychosis64 HP:0000709
10 hypergonadotropic hypogonadism64 HP:0000815
11 poor eye contact64 HP:0000817
12 intellectual disability64 HP:0001249
13 muscular hypotonia64 HP:0001252
14 excessive daytime somnolence64 HP:0001262
15 cerebellar atrophy64 HP:0001272
16 areflexia64 HP:0001284
17 muscle weakness64 HP:0001324
18 specific learning disability64 HP:0001328
19 migraine64 HP:0002076
20 cerebral cortical atrophy64 HP:0002120
21 athetosis64 HP:0002305
22 clumsiness64 HP:0002312
23 elevated hepatic transaminases64 HP:0002910
24 sensory axonal neuropathy64 HP:0003390
25 loss of ability to walk64 HP:0006957
26 epilepsia partialis continua64 HP:0012847
27 epileptic encephalopathy64 HP:0200134

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 7:


muscle spasticity, tremor, abnormal pyramidal signs, 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)27
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:

36
Liver, Brain, Spinal cord, Cerebellum, Eye

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:

70
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
id Gene Variation Type Significance SNP ID Assembly Location
1TWNKNM_ 021830.4(TWNK): c.1287C> T (p.Ala429=)SNVPathogenicrs80356541GRCh37Chr 10, 102749444: 102749444
2TWNKNM_ 021830.4(TWNK): c.333delT (p.Leu112Serfs)deletionPathogenicrs886037832GRCh37Chr 10, 102748300: 102748300
3TWNKNM_ 021830.4(TWNK): c.904C> T (p.Arg302Trp)SNVLikely pathogenicrs374997012GRCh37Chr 10, 102748871: 102748871
4TWNKNM_ 021830.4(TWNK): c.1370C> T (p.Thr457Ile)SNVPathogenicrs80356544GRCh37Chr 10, 102749527: 102749527
5TWNKNM_ 021830.4(TWNK): c.1523A> G (p.Tyr508Cys)SNVPathogenicrs80356540GRCh37Chr 10, 102750231: 102750231
6TWNKNM_ 021830.4(TWNK): c.952G> A (p.Ala318Thr)SNVPathogenicrs80356542GRCh37Chr 10, 102748919: 102748919
7TWNKNM_ 021830.4(TWNK): c.1387C> T (p.Arg463Trp)SNVLikely pathogenicrs386834146GRCh37Chr 10, 102749544: 102749544

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:00300189.4ACTN2, PDLIM3
2mitochondrionGO:00057398.7ATCAY, SACS, SLC25A4, TWNK

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:00080929.9ACTN2, PDLIM3
2structural constituent of muscleGO:00083079.4ACTN2, PDLIM3

Sources for Mitochondrial Dna Depletion Syndrome 7

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet