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

Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 7:

Name: Mitochondrial Dna Depletion Syndrome 7 54 12 66 29 13 14
Infantile Onset Spinocerebellar Ataxia 12 50 24 56 14 69
Ohaha Syndrome 12 50 24 25 56 66
Iosca 23 50 24 25 56 66
Infantile-Onset Spinocerebellar Ataxia 23 24 25
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome 50 56
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 50 25
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 50 66
Spinocerebellar Ataxia 8 66 69
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 50
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type 66
Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis 66
Pure Spinocerebellar Ataxia Japanese Type 66
Spinocerebellar Ataxia Infantile-Onset 66
Sca4 Pure Japanese Type 66
Mtdps7 66
Sca8 66

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
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:

OMIM 54 271245
Disease Ontology 12 DOID:0050556 DOID:0080126
Orphanet 56 ORPHA1186
ICD10 via Orphanet 34 G11.1
MESH via Orphanet 43 C535523
UMLS via Orphanet 70 C1849096
MedGen 40 C1849096
MeSH 42 D020754

Summaries for Mitochondrial Dna Depletion Syndrome 7

OMIM : 54 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 ataxia, ophthalmoplegia and hearing impairment. 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 : 66 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: NBK3795

Related Diseases for Mitochondrial Dna Depletion Syndrome 7

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

Symptoms by clinical synopsis from OMIM:

271245

Clinical features from OMIM:

271245

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 7:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000602
3 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
4 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
5 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
6 reduced tendon reflexes 56 32 Very frequent (99-80%) HP:0001315
7 abnormality of the autonomic nervous system 56 32 Very frequent (99-80%) HP:0002270
8 clumsiness 32 HP:0002312
9 muscle weakness 32 HP:0001324
10 athetosis 32 HP:0002305
11 excessive daytime somnolence 32 HP:0001262
12 nystagmus 32 HP:0000639
13 intellectual disability 32 HP:0001249
14 muscular hypotonia 32 HP:0001252
15 elevated hepatic transaminases 32 HP:0002910
16 sensory axonal neuropathy 32 HP:0003390
17 migraine 32 HP:0002076
18 cerebral cortical atrophy 32 HP:0002120
19 psychosis 32 HP:0000709
20 hypergonadotropic hypogonadism 32 HP:0000815
21 specific learning disability 32 HP:0001328
22 areflexia 32 HP:0001284
23 cerebellar atrophy 32 HP:0001272
24 epileptic encephalopathy 32 HP:0200134
25 poor eye contact 32 HP:0000817
26 epilepsia partialis continua 32 HP:0012847
27 loss of ability to walk 32 HP:0006957

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 7

Genetic Tests for Mitochondrial Dna Depletion Syndrome 7

Genetic tests related to Mitochondrial Dna Depletion Syndrome 7:

id Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type) 29
2 Infantile-Onset Spinocerebellar Ataxia 24 TWNK

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

39
Liver, Brain, Spinal Cord, Cerebellum, Eye

Publications for Mitochondrial Dna Depletion Syndrome 7

Variations for Mitochondrial Dna Depletion Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

66
id Symbol AA change Variation ID SNP ID
1 TWNK p.Thr457Ile VAR_039045 rs80356544
2 TWNK p.Tyr508Cys VAR_043797 rs80356540
3 TWNK p.Ala318Thr VAR_065104 rs80356542
4 TWNK p.Leu360Gly VAR_065107
5 TWNK p.Leu456Val VAR_067722 rs386834145

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATXN8 ATXN8, (CAG)n EXPANSION NT expansion Pathogenic
2 TWNK NM_021830.4(TWNK): c.1370C> T (p.Thr457Ile) single nucleotide variant Pathogenic rs80356544 GRCh37 Chromosome 10, 102749527: 102749527
3 TWNK NM_021830.4(TWNK): c.1523A> G (p.Tyr508Cys) single nucleotide variant Pathogenic rs80356540 GRCh37 Chromosome 10, 102750231: 102750231
4 TWNK NM_021830.4(TWNK): c.952G> A (p.Ala318Thr) single nucleotide variant Pathogenic rs80356542 GRCh37 Chromosome 10, 102748919: 102748919
5 ATXN8OS NR_002717.2(ATXN8OS): n.1103_1105CTG(15_40) NT expansion Pathogenic,risk factor rs193922930 GRCh37 Chromosome 13, 70713516: 70713518
6 TWNK NM_021830.4(TWNK): c.1287C> T (p.Ala429=) single nucleotide variant Pathogenic rs80356541 GRCh37 Chromosome 10, 102749444: 102749444
7 TWNK NM_021830.4(TWNK): c.1387C> T (p.Arg463Trp) single nucleotide variant Likely pathogenic rs386834146 GRCh37 Chromosome 10, 102749544: 102749544
8 TWNK NM_021830.4(TWNK): c.333delT (p.Leu112Serfs) deletion Pathogenic rs886037832 GRCh37 Chromosome 10, 102748300: 102748300
9 TWNK NM_021830.4(TWNK): c.904C> T (p.Arg302Trp) single nucleotide variant Likely pathogenic rs374997012 GRCh37 Chromosome 10, 102748871: 102748871

Expression for Mitochondrial Dna Depletion Syndrome 7

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 7.

Pathways for Mitochondrial Dna Depletion Syndrome 7

GO Terms for Mitochondrial Dna Depletion Syndrome 7

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.96 ACTN2 PDLIM3
2 mitochondrion GO:0005739 8.92 ATCAY SACS SLC25A4 TWNK

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.96 ACTN2 PDLIM3
2 structural constituent of muscle GO:0008307 8.62 ACTN2 PDLIM3

Sources for Mitochondrial Dna Depletion Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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