MTDPS7
MCID: MTC054
MIFTS: 46

Mitochondrial Dna Depletion Syndrome 7 (MTDPS7)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 7:

Name: Mitochondrial Dna Depletion Syndrome 7 58 12 25 76 30 13 6 15
Ohaha Syndrome 58 12 54 26 60 76
Iosca 58 25 54 26 60 76
Infantile Onset Spinocerebellar Ataxia 12 54 60 45 74
Infantile-Onset Spinocerebellar Ataxia 25 26 30
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome 54 60
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 54 26
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 54 76
Spinocerebellar Ataxia 8 76 74
Mtdps7 58 76
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, and Athetosis 58
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 54
Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy 58
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type 76
Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis 76
Spinocerebellar Ataxia 8, Formerly; Sca8, Formerly 58
Spinocerebellar Ataxia, Infantile-Onset; Iosca 58
Mitochondrial Dna Depletion Syndrome , Type 7 41
Pure Spinocerebellar Ataxia Japanese Type 76
Spinocerebellar Ataxia, Infantile-Onset 58
Spinocerebellar Ataxia Infantile-Onset 76
Spinocerebellar Ataxia 8, Formerly 58
Sca4 Pure Japanese Type 76
Sca8, Formerly 58
Sca8 76

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset 6 to 18 months
some features occur in adolescence, including migraine, seizures, and psychiatric disorders
severe epilepsy may lead to early death
carrier frequency in finland is 1 in 230


HPO:

33
mitochondrial dna depletion syndrome 7:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 7

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1186Disease definitionInfantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.EpidemiologySo far, 24 cases have been reported. In Finland, IOSCA has a population carrier frequency of more than 1:230.Clinical descriptionIOSCA is characterized by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibers in the sural nerve, appear later in the disease course. Hypogonadism may occur in females. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening.EtiologyIOSCA is caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. Twenty-one of the reported patients were homozygous for this mutation, and three were compound heterozygotes: c.952G>A/c.1523A>G (two patients) and c.1523A>G/c.1287C>T (one patient). The mutations lead to mtDNA depletion in the brain and the liver, but not in the muscle.Diagnostic methodsThe diagnosis is based on clinical and pathological findings. Studies of sural nerve biopsies reveal an early and rapidly progressive axonal neuropathy. Neuroimaging studies revealing cerebellar atrophy and genetic testing for the c.1523A>G mutation may also help to confirm the diagnosis.Differential diagnosisDifferential diagnoses include early-onset cerebellar ataxias with sensory axonal neuropathy and epileptic encephalopathy, mitochondrial disorders with axonal neuropathy (such as Friedreich ataxia), progressive external ophthalmoplegia (PEO), juvenile- or adult-onset mitochondrial recessive ataxia syndrome (MIRAS), and POLG-related disorders (see theseterms).Antenatal diagnosisPrenatal testing may be available for families in which the disease-causing mutations have already been identified.Genetic counselingIOSCA is inherited in an autosomal recessive manner. Genetic counseling is an important clinical tool for preventing new cases, especially for couples with an affected first child: the risk of having an affected child in further pregnancies is 25%.Management and treatmentIOSCA patients are often managed by a multidisciplinary team, involving a pediatrician, neurologist, psychiatrist, orthopedic surgeon, physical and occupational therapists, genetic counselor, and social worker. Treatment is symptomatic and may include: (1) hearing aids, speech therapy and sign language for deafness; (2) physical therapy, orthotic devices and orthopedic surgery for sensory axonal neuropathy; (3) walking aids, a wheelchair, physiotherapy and occupational therapy for ataxia; (4) antiepileptic drugs for seizures and (5) antipsychotics and antidepressants for psychiatric symptoms.PrognosisPrognosis is unfavorable. Patients are wheelchair-bound by adolescence. Early death is common due to severe seizures. The clinical course seems to be more rapid and severe (with death during infancy) in c.952G>A/ c.1523A>G compound heterozygotes.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 7, also known as ohaha syndrome, is related to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis and aceruloplasminemia, and has symptoms including ataxia, muscle weakness and tremor. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is TWNK (Twinkle MtDNA Helicase). Affiliated tissues include brain, liver and testes, and related phenotypes are ataxia and hearing impairment

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has material basis in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.

Genetics Home Reference : 26 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.

OMIM : 58 Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Although originally classified as a form of spinocerebellar ataxia (see, e.g., SCA1, 164400) (Koskinen et al., 1994), it has been reclassified as a mitochondrial DNA depletion syndrome (Hakonen et al., 2008) based on the finding of mtDNA depletion in the brain and liver of affected individuals. For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (271245)

UniProtKB/Swiss-Prot : 76 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

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 29.9 MRPL43 POLG TWNK
2 aceruloplasminemia 29.7 POLG SPTBN2
3 spinocerebellar ataxia 31 11.5
4 spinocerebellar ataxia 12 11.5
5 spinocerebellar ataxia, autosomal recessive 8 11.4
6 spinocerebellar ataxia, autosomal recessive 14 11.4
7 anemia, sideroblastic, and spinocerebellar ataxia 11.3
8 parkinson disease, late-onset 10.3
9 spinocerebellar ataxia 2 10.2
10 spinocerebellar ataxia 5 10.2
11 autosomal dominant cerebellar ataxia 10.2
12 sensory peripheral neuropathy 10.2
13 neuropathy 10.2
14 perrault syndrome 10.1 MRPL43 TWNK
15 perrault syndrome 5 10.1 MRPL43 TWNK
16 spinocerebellar ataxia 10 10.1
17 spinocerebellar ataxia 17 10.1
18 mitochondrial dna depletion syndrome 10.1 POLG TWNK
19 muscle disorders 10.1
20 polyneuropathy 10.1
21 hypogonadism 10.1
22 myopathy 10.1
23 hypogonadotropism 10.1
24 spinocerebellar ataxia 8 10.1
25 mitochondrial dna depletion syndrome 4a 10.1 POLG TWNK
26 diabetic polyneuropathy 10.1 POLG TWNK
27 chronic progressive external ophthalmoplegia 10.1 POLG TWNK
28 3-methylglutaconic aciduria, type v 10.1 POLG TWNK
29 ocular motility disease 10.0 POLG TWNK
30 ataxia and polyneuropathy, adult-onset 10.0
31 myoclonic epilepsy associated with ragged-red fibers 10.0 POLG TWNK
32 hereditary ataxia 10.0 SPTBN2 TWNK
33 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0 POLG TWNK
34 axonal neuropathy 10.0 POLG TWNK
35 amyotrophic lateral sclerosis 1 10.0
36 machado-joseph disease 10.0
37 huntington disease 10.0
38 multiple system atrophy 1 10.0
39 fragile x tremor/ataxia syndrome 10.0
40 spinocerebellar ataxia 36 10.0
41 lateral sclerosis 10.0
42 corticobasal degeneration 10.0
43 degos 'en cocarde' erythrokeratoderma 10.0
44 kearns-sayre syndrome 9.9 POLG TWNK
45 mitochondrial metabolism disease 9.9 POLG TWNK
46 ataxia neuropathy spectrum 9.8 MRPL43 POLG TWNK
47 autosomal dominant progressive external ophthalmoplegia 9.8 MRPL43 POLG TWNK
48 autosomal recessive cerebellar ataxia 9.8 MRPL43 SPTBN2 TWNK
49 muscular disease 9.7 POLG TWNK

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

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 7:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
3 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
4 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
5 ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000602
6 abnormality of the autonomic nervous system 60 33 hallmark (90%) Very frequent (99-80%) HP:0002270
7 elevated hepatic transaminase 33 occasional (7.5%) HP:0002910
8 nystagmus 33 HP:0000639
9 intellectual disability 33 HP:0001249
10 muscular hypotonia 33 HP:0001252
11 muscle weakness 33 HP:0001324
12 abnormality of movement 60 Very frequent (99-80%)
13 specific learning disability 33 HP:0001328
14 sensory axonal neuropathy 33 HP:0003390
15 migraine 33 HP:0002076
16 cerebral cortical atrophy 33 HP:0002120
17 psychosis 33 HP:0000709
18 hypergonadotropic hypogonadism 33 HP:0000815
19 epileptic encephalopathy 33 HP:0200134
20 status epilepticus 33 HP:0002133
21 areflexia 33 HP:0001284
22 clumsiness 33 HP:0002312
23 cerebellar atrophy 33 HP:0001272
24 generalized hypotonia 33 HP:0001290
25 encephalopathy 33 HP:0001298
26 atrophy/degeneration affecting the brainstem 33 HP:0007366
27 athetosis 33 HP:0002305
28 excessive daytime somnolence 33 HP:0001262
29 loss of ability to walk 33 HP:0006957
30 poor eye contact 33 HP:0000817
31 epilepsia partialis continua 33 HP:0012847

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy
ophthalmoplegia
poor eye contact
abnormal eye movements

Muscle Soft Tissue:
muscle weakness
hypotonia
decreased complex i activity (rare)

Neurologic Behavioral Psychiatric Manifestations:
psychosis
mood disorders
somnolence
uncontrolled rage

Abdomen Liver:
mitochondrial dna depletion

Endocrine Features:
hypergonadotrophic hypogonadism (in females in adolescence)

Neurologic Central Nervous System:
ataxia
epileptic encephalopathy
status epilepticus
clumsiness
cerebellar atrophy
more
Neurologic Peripheral Nervous System:
sensory axonal neuropathy
loss of deep tendon reflexes

Head And Neck Ears:
deafness
loss of vestibular caloric response

Genitourinary Internal Genitalia Female:
hypergonadotrophic hypogonadism (in females in adolescence)

Laboratory Abnormalities:
abnormal liver enzymes (rare)

Clinical features from OMIM:

271245

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 7:


ataxia, muscle weakness, tremor, ophthalmoplegia, clumsiness, athetosis, muscle spasticity, abnormal pyramidal signs

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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

Cochrane evidence based reviews: infantile onset spinocerebellar ataxia

Genetic Tests for Mitochondrial Dna Depletion Syndrome 7

Genetic tests related to Mitochondrial Dna Depletion Syndrome 7:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type) 30 TWNK
2 Infantile-Onset Spinocerebellar Ataxia 30

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

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

42
Brain, Liver, Testes, Spinal Cord, Cerebellum, Eye, Bone

Publications for Mitochondrial Dna Depletion Syndrome 7

Articles related to Mitochondrial Dna Depletion Syndrome 7:

(show all 21)
# Title Authors Year
1
Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. ( 30898343 )
2019
2
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. ( 27551684 )
2016
3
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. ( 25794864 )
2015
4
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy. ( 24816431 )
2014
5
Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases. ( 24300164 )
2014
6
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. ( 23047744 )
2013
7
Case of infantile onset spinocerebellar ataxia type 5. ( 22914369 )
2013
8
Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. ( 22353293 )
2012
9
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. ( 22928142 )
2012
10
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. ( 18775955 )
2008
11
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. ( 17722119 )
2007
12
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. ( 17921179 )
2007
13
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. ( 16135556 )
2005
14
cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia. ( 12459258 )
2002
15
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. ( 9879682 )
1998
16
Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. ( 8889554 )
1996
17
Primary hypogonadism in females with infantile onset spinocerebellar ataxia. ( 8552218 )
1995
18
Infantile-onset spinocerebellar ataxia: MR and CT findings. ( 7484627 )
1995
19
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. ( 7877879 )
1994
20
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. ( 8133312 )
1994
21
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). ( 8159181 )
1994

Variations for Mitochondrial Dna Depletion Syndrome 7

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

76
# 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 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1370C> T (p.Thr457Ile) single nucleotide variant Pathogenic rs80356544 GRCh37 Chromosome 10, 102749527: 102749527
2 TWNK NM_021830.4(TWNK): c.1370C> T (p.Thr457Ile) single nucleotide variant Pathogenic rs80356544 GRCh38 Chromosome 10, 100989770: 100989770
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.1523A> G (p.Tyr508Cys) single nucleotide variant Pathogenic rs80356540 GRCh38 Chromosome 10, 100990474: 100990474
5 TWNK NM_021830.4(TWNK): c.952G> A (p.Ala318Thr) single nucleotide variant Pathogenic rs80356542 GRCh37 Chromosome 10, 102748919: 102748919
6 TWNK NM_021830.4(TWNK): c.952G> A (p.Ala318Thr) single nucleotide variant Pathogenic rs80356542 GRCh38 Chromosome 10, 100989162: 100989162
7 TWNK NM_021830.4(TWNK): c.1287C> T (p.Ala429=) single nucleotide variant Pathogenic rs80356541 GRCh37 Chromosome 10, 102749444: 102749444
8 TWNK NM_021830.4(TWNK): c.1287C> T (p.Ala429=) single nucleotide variant Pathogenic rs80356541 GRCh38 Chromosome 10, 100989687: 100989687
9 TWNK NM_021830.4(TWNK): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs386834145 GRCh37 Chromosome 10, 102749523: 102749523
10 TWNK NM_021830.4(TWNK): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs386834145 GRCh38 Chromosome 10, 100989766: 100989766
11 TWNK NM_021830.4(TWNK): c.1387C> T (p.Arg463Trp) single nucleotide variant Likely pathogenic rs386834146 GRCh37 Chromosome 10, 102749544: 102749544
12 TWNK NM_021830.4(TWNK): c.1387C> T (p.Arg463Trp) single nucleotide variant Likely pathogenic rs386834146 GRCh38 Chromosome 10, 100989787: 100989787
13 TWNK NM_021830.4(TWNK): c.247C> T (p.Pro83Ser) single nucleotide variant Uncertain significance rs386834147 GRCh37 Chromosome 10, 102748214: 102748214
14 TWNK NM_021830.4(TWNK): c.247C> T (p.Pro83Ser) single nucleotide variant Uncertain significance rs386834147 GRCh38 Chromosome 10, 100988457: 100988457
15 TWNK NM_021830.4(TWNK): c.1196A> G (p.Asn399Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs863223921 GRCh37 Chromosome 10, 102749163: 102749163
16 TWNK NM_021830.4(TWNK): c.1196A> G (p.Asn399Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs863223921 GRCh38 Chromosome 10, 100989406: 100989406
17 TWNK NM_021830.4(TWNK): c.333delT (p.Leu112Serfs) deletion Pathogenic rs886037832 GRCh37 Chromosome 10, 102748300: 102748300
18 TWNK NM_021830.4(TWNK): c.333delT (p.Leu112Serfs) deletion Pathogenic rs886037832 GRCh38 Chromosome 10, 100988543: 100988543
19 TWNK NM_021830.4(TWNK): c.904C> T (p.Arg302Trp) single nucleotide variant Likely pathogenic rs374997012 GRCh37 Chromosome 10, 102748871: 102748871
20 TWNK NM_021830.4(TWNK): c.904C> T (p.Arg302Trp) single nucleotide variant Likely pathogenic rs374997012 GRCh38 Chromosome 10, 100989114: 100989114

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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ATCAY MRPL43 POLG TWNK
2 mitochondrial nucleoid GO:0042645 8.62 POLG TWNK

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

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 POLG TWNK
2 cellular response to glucose stimulus GO:0071333 8.96 POLG TWNK
3 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 POLG TWNK

Sources for Mitochondrial Dna Depletion Syndrome 7

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