MCID: MTC010
MIFTS: 37

Mitochondrial Dna Depletion Syndrome

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

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome:

Name: Mitochondrial Dna Depletion Syndrome 54 38 30 6 41

Classifications:



External Ids:

KEGG 38 H00469

Summaries for Mitochondrial Dna Depletion Syndrome

MalaCards based summary : Mitochondrial Dna Depletion Syndrome is related to mitochondrial dna depletion syndrome 3 and mitochondrial dna depletion syndrome 4a. An important gene associated with Mitochondrial Dna Depletion Syndrome is TK2 (Thymidine Kinase 2), and among its related pathways/superpathways are Pyrimidine metabolism and Purine metabolism. The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are adipose tissue and cellular

Wikipedia : 77 Mitochondrial DNA depletion syndrome (MDS or MDDS) is any of a group of autosomal recessive disorders... more...

Related Diseases for Mitochondrial Dna Depletion Syndrome

Diseases in the Mitochondrial Dna Deletion Syndromes 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 Depletion Syndrome Rrm2b-Related Mitochondrial Dna Depletion Syndrome

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 3 34.1 DGUOK TWNK
2 mitochondrial dna depletion syndrome 4a 33.7 DGUOK POLG TWNK
3 succinate-coa ligase deficiency 32.2 SUCLA2 SUCLG1
4 coenzyme q10 deficiency disease 29.9 POLG TK2
5 mitochondrial dna depletion syndrome 5 12.9
6 mitochondrial dna depletion syndrome 2 12.9
7 mitochondrial dna depletion syndrome 13 12.8
8 mitochondrial dna depletion syndrome 8a 12.8
9 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 12.8
10 mitochondrial dna depletion syndrome 6 12.8
11 mitochondrial dna depletion syndrome 7 12.8
12 mitochondrial dna depletion syndrome 9 12.7
13 mitochondrial dna depletion syndrome 4b 12.7
14 tk2-related mitochondrial dna depletion syndrome, myopathic form 12.7
15 mitochondrial dna depletion syndrome 1 12.7
16 mitochondrial dna depletion syndrome 11 12.7
17 mitochondrial dna depletion syndrome 12b , autosomal recessive 12.7
18 mitochondrial dna depletion syndrome 14 12.7
19 mitochondrial dna depletion syndrome 12a , autosomal dominant 12.7
20 mitochondrial dna depletion syndrome 15 12.7
21 rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy 12.7
22 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 12.7
23 mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency 12.6
24 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.6
25 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
26 rrm2b-related mitochondrial dna depletion syndrome 12.5
27 mitochondrial dna depletion syndrome 12a 12.3
28 mitochondrial dna depletion syndrome 12b 12.3
29 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.3
30 mitochondrial dna depletion syndrome, hepatocerebrorenal form 12.3
31 sengers syndrome 12.2
32 deoxyguanosine kinase deficiency 12.0
33 mpv17-related mitochondrial dna maintenance defect 11.5
34 tk2-related mitochondrial dna maintenance defect, myopathic form 11.4
35 mohr-tranebjaerg syndrome 11.3
36 infantile liver failure syndrome 1 10.1
37 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.1 POLG TK2
38 mitochondrial neurogastrointestinal encephalomyopathy 10.0 POLG RRM2B
39 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.0 SUCLA2 SUCLG1
40 3-methylglutaconic aciduria, type iv 10.0 POLG SUCLA2
41 ataxia neuropathy spectrum 10.0 POLG TWNK
42 mitochondrial encephalomyopathy 9.9 FBXL4 SUCLA2 SUCLG1
43 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.9 POLG TWNK
44 cystathioninuria 9.9
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
46 glycogen storage disease 9.9
47 cholestasis 9.9
48 uniparental disomy of chromosome 2 9.9
49 maternal uniparental disomy of chromosome 2 9.9
50 diabetic polyneuropathy 9.9 POLG TWNK

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome:



Diseases related to Mitochondrial Dna Depletion Syndrome

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.26 MPV17 POLG RRM2B TK2
2 cellular MP:0005384 9.1 MPV17 POLG RRM2B SUCLA2 TK2 TWNK

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome

Drugs for Mitochondrial Dna Depletion Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of TK2 Deficiency With Thymidine and Deoxycytidine Enrolling by invitation NCT03639701 Phase 1, Phase 2 Thymidine
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome

Genetic Tests for Mitochondrial Dna Depletion Syndrome

Genetic tests related to Mitochondrial Dna Depletion Syndrome:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 30

Anatomical Context for Mitochondrial Dna Depletion Syndrome

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome:

42
Liver, Brain

Publications for Mitochondrial Dna Depletion Syndrome

Articles related to Mitochondrial Dna Depletion Syndrome:

(show top 50) (show all 57)
# Title Authors Year
1
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. ( 30804983 )
2019
2
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. ( 30157269 )
2018
3
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. ( 27743463 )
2017
4
MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. ( 28673863 )
2017
5
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. ( 29137425 )
2017
6
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited. ( 29473055 )
2016
7
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. ( 27536553 )
2016
8
[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]. ( 27324545 )
2016
9
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. ( 26773591 )
2016
10
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. ( 27182039 )
2016
11
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. ( 25861990 )
2015
12
Mitochondrial DNA depletion syndrome causing liver failure. ( 25129007 )
2014
13
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. ( 25205723 )
2014
14
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. ( 24362886 )
2014
15
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. ( 23714749 )
2014
16
Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome. ( 24423689 )
2014
17
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome. ( 24266892 )
2013
18
Liver pathology in infantile mitochondrial DNA depletion syndrome. ( 24050659 )
2013
19
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome. ( 24148156 )
2013
20
Mitochondrial DNA depletion syndrome-an unusual reason for interstage attrition after the modified stage 1 Norwood operation. ( 22011012 )
2013
21
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. ( 23932787 )
2013
22
Adult mitochondrial DNA depletion syndrome with mild manifestations. ( 23888212 )
2013
23
Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Is Associated with Neonatal Cholestasis and Liver Failure. ( 24321534 )
2013
24
DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease. ( 22868686 )
2013
25
Pyruvate therapy for mitochondrial DNA depletion syndrome. ( 21855607 )
2012
26
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. ( 22824774 )
2012
27
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. ( 23141463 )
2012
28
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. ( 22980518 )
2012
29
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. ( 22011815 )
2011
30
Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome. ( 20440651 )
2010
31
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. ( 20074988 )
2010
32
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. ( 20421844 )
2010
33
Quantitative evaluation of the mitochondrial DNA depletion syndrome. ( 20448188 )
2010
34
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. ( 19094978 )
2009
35
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. ( 19394258 )
2009
36
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations. ( 19736010 )
2009
37
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. ( 18504129 )
2008
38
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. ( 18695062 )
2008
39
Liver failure in mitochondrial DNA depletion syndrome: the importance of serial neuroimaging in liver transplantation evaluation. ( 17667724 )
2007
40
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. ( 16908739 )
2006
41
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. ( 15887277 )
2005
42
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. ( 15883261 )
2005
43
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. ( 15639197 )
2005
44
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. ( 14734888 )
2004
45
Conjugated hyperbilirubinemia in infancy (mitochondrial DNA depletion syndrome, liver). ( 15630532 )
2004
46
Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome. ( 14623087 )
2003
47
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. ( 14518828 )
2003
48
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. ( 11584375 )
2001
49
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? ( 11431741 )
2001
50
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. ( 10393838 )
1999

Variations for Mitochondrial Dna Depletion Syndrome

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome:

6 (show top 50) (show all 536)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh37 Chromosome 10, 102749139: 102749139
2 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh38 Chromosome 10, 100989382: 100989382
3 MPV17 NM_002437.4(MPV17): c.27G> T (p.Arg9=) single nucleotide variant Conflicting interpretations of pathogenicity rs35244252 GRCh37 Chromosome 2, 27545358: 27545358
4 MPV17 NM_002437.4(MPV17): c.27G> T (p.Arg9=) single nucleotide variant Conflicting interpretations of pathogenicity rs35244252 GRCh38 Chromosome 2, 27322491: 27322491
5 DGUOK NM_080916.2(DGUOK): c.630G> A (p.Glu210=) single nucleotide variant Uncertain significance rs115206553 GRCh37 Chromosome 2, 74184290: 74184290
6 DGUOK NM_080916.2(DGUOK): c.630G> A (p.Glu210=) single nucleotide variant Uncertain significance rs115206553 GRCh38 Chromosome 2, 73957163: 73957163
7 SUCLG1 NM_003849.3(SUCLG1): c.900C> T (p.Ala300=) single nucleotide variant Conflicting interpretations of pathogenicity rs113840224 GRCh37 Chromosome 2, 84652653: 84652653
8 SUCLG1 NM_003849.3(SUCLG1): c.900C> T (p.Ala300=) single nucleotide variant Conflicting interpretations of pathogenicity rs113840224 GRCh38 Chromosome 2, 84425529: 84425529
9 SUCLG1 NM_003849.3(SUCLG1): c.236G> A (p.Gly79Asp) single nucleotide variant Uncertain significance rs143030960 GRCh38 Chromosome 2, 84443366: 84443366
10 SUCLG1 NM_003849.3(SUCLG1): c.236G> A (p.Gly79Asp) single nucleotide variant Uncertain significance rs143030960 GRCh37 Chromosome 2, 84670490: 84670490
11 SUCLG1 NM_003849.3(SUCLG1): c.110G> C (p.Gly37Ala) single nucleotide variant Uncertain significance rs369610897 GRCh37 Chromosome 2, 84676864: 84676864
12 SUCLG1 NM_003849.3(SUCLG1): c.110G> C (p.Gly37Ala) single nucleotide variant Uncertain significance rs369610897 GRCh38 Chromosome 2, 84449740: 84449740
13 SUCLA2 NM_003850.2(SUCLA2): c.811A> G (p.Met271Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142020748 GRCh37 Chromosome 13, 48528684: 48528684
14 SUCLA2 NM_003850.2(SUCLA2): c.811A> G (p.Met271Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142020748 GRCh38 Chromosome 13, 47954549: 47954549
15 SUCLA2 NM_003850.2(SUCLA2): c.272-13G> C single nucleotide variant Conflicting interpretations of pathogenicity rs367890526 GRCh37 Chromosome 13, 48563129: 48563129
16 SUCLA2 NM_003850.2(SUCLA2): c.272-13G> C single nucleotide variant Conflicting interpretations of pathogenicity rs367890526 GRCh38 Chromosome 13, 47988994: 47988994
17 POLG NM_002693.2(POLG): c.830A> T (p.His277Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138929605 GRCh37 Chromosome 15, 89873337: 89873337
18 POLG NM_002693.2(POLG): c.830A> T (p.His277Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138929605 GRCh38 Chromosome 15, 89330106: 89330106
19 POLG NM_002693.2(POLG): c.391T> C (p.Tyr131His) single nucleotide variant Conflicting interpretations of pathogenicity rs562847013 GRCh38 Chromosome 15, 89333364: 89333364
20 POLG NM_002693.2(POLG): c.391T> C (p.Tyr131His) single nucleotide variant Conflicting interpretations of pathogenicity rs562847013 GRCh37 Chromosome 15, 89876595: 89876595
21 DGUOK NM_080916.2(DGUOK): c.123C> G (p.Leu41=) single nucleotide variant Conflicting interpretations of pathogenicity rs145252858 GRCh38 Chromosome 2, 73927033: 73927033
22 DGUOK NM_080916.2(DGUOK): c.123C> G (p.Leu41=) single nucleotide variant Conflicting interpretations of pathogenicity rs145252858 GRCh37 Chromosome 2, 74154160: 74154160
23 DGUOK NM_080916.2(DGUOK): c.708-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370071744 GRCh38 Chromosome 2, 73958143: 73958143
24 DGUOK NM_080916.2(DGUOK): c.708-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370071744 GRCh37 Chromosome 2, 74185270: 74185270
25 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh38 Chromosome 10, 100990973: 100990973
26 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh37 Chromosome 10, 102750730: 102750730
27 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh38 Chromosome 10, 100993430: 100993430
28 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh37 Chromosome 10, 102753187: 102753187
29 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh38 Chromosome 10, 100993500: 100993500
30 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh37 Chromosome 10, 102753257: 102753257
31 TK2 NM_004614.4(TK2): c.680C> T (p.Pro227Leu) single nucleotide variant Uncertain significance rs754140768 GRCh37 Chromosome 16, 66547653: 66547653
32 TK2 NM_004614.4(TK2): c.680C> T (p.Pro227Leu) single nucleotide variant Uncertain significance rs754140768 GRCh38 Chromosome 16, 66513750: 66513750
33 TK2 NM_004614.4(TK2): c.94C> T (p.Arg32Trp) single nucleotide variant Benign/Likely benign rs200121712 GRCh37 Chromosome 16, 66583871: 66583871
34 TK2 NM_004614.4(TK2): c.94C> T (p.Arg32Trp) single nucleotide variant Benign/Likely benign rs200121712 GRCh38 Chromosome 16, 66549968: 66549968
35 TK2 NM_004614.4(TK2): c.416C> T (p.Ala139Val) single nucleotide variant Pathogenic/Likely pathogenic rs281865494 GRCh37 Chromosome 16, 66562930: 66562930
36 TK2 NM_004614.4(TK2): c.416C> T (p.Ala139Val) single nucleotide variant Pathogenic/Likely pathogenic rs281865494 GRCh38 Chromosome 16, 66529027: 66529027
37 FBXL4 NM_012160.4(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 GRCh37 Chromosome 6, 99347158: 99347158
38 FBXL4 NM_012160.4(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 GRCh38 Chromosome 6, 98899282: 98899282
39 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh37 Chromosome 10, 102748606: 102748606
40 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh38 Chromosome 10, 100988849: 100988849
41 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh37 Chromosome 10, 102750621: 102750621
42 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh38 Chromosome 10, 100990864: 100990864
43 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh37 Chromosome 10, 102750623: 102750623
44 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh38 Chromosome 10, 100990866: 100990866
45 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh37 Chromosome 10, 102747363: 102747363
46 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh38 Chromosome 10, 100987606: 100987606
47 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh37 Chromosome 10, 102752933: 102752933
48 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh38 Chromosome 10, 100993176: 100993176
49 DGUOK NM_080916.2(DGUOK): c.159G> A (p.Thr53=) single nucleotide variant Benign/Likely benign rs62641680 GRCh37 Chromosome 2, 74166053: 74166053
50 DGUOK NM_080916.2(DGUOK): c.159G> A (p.Thr53=) single nucleotide variant Benign/Likely benign rs62641680 GRCh38 Chromosome 2, 73938926: 73938926

Expression for Mitochondrial Dna Depletion Syndrome

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

Pathways for Mitochondrial Dna Depletion Syndrome

Pathways related to Mitochondrial Dna Depletion Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Purine metabolism hsa00230
3 Citrate cycle (TCA cycle) hsa00020

GO Terms for Mitochondrial Dna Depletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.35 DGUOK SUCLA2 SUCLG1 TK2 TWNK
2 mitochondrion GO:0005739 9.28 DGUOK FBXL4 MPV17 POLG RRM2B SUCLA2
3 mitochondrial nucleoid GO:0042645 9.16 POLG TWNK

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

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.54 POLG RRM2B TWNK
2 cellular response to glucose stimulus GO:0071333 9.48 POLG TWNK
3 nucleobase-containing compound metabolic process GO:0006139 9.46 DGUOK TK2
4 tricarboxylic acid cycle GO:0006099 9.43 SUCLA2 SUCLG1
5 DNA biosynthetic process GO:0071897 9.4 POLG TK2
6 nucleotide biosynthetic process GO:0009165 9.32 DGUOK TK2
7 succinate metabolic process GO:0006105 9.26 SUCLA2 SUCLG1
8 succinyl-CoA metabolic process GO:0006104 9.16 SUCLA2 SUCLG1
9 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 8.96 DGUOK TK2
10 mitochondrial DNA replication GO:0006264 8.8 POLG RRM2B TWNK

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

# Name GO ID Score Top Affiliating Genes
1 nucleoside kinase activity GO:0019206 9.16 DGUOK TK2
2 deoxynucleoside kinase activity GO:0019136 8.96 DGUOK TK2
3 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLA2 SUCLG1

Sources for Mitochondrial Dna Depletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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