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 53 37 6 40

Classifications:



External Ids:

KEGG 37 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, Mitochondrial), 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, brain and bone, and related phenotypes are adipose tissue and cellular

Wikipedia : 76 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 61)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 3 34.1 DGUOK TWNK
2 mitochondrial dna depletion syndrome 4a 33.8 DGUOK POLG TWNK
3 succinate-coa ligase deficiency 32.1 SUCLA2 SUCLG1
4 coenzyme q10 deficiency disease 29.8 POLG TK2
5 mitochondrial dna depletion syndrome 5 12.9
6 mitochondrial dna depletion syndrome 2 12.8
7 mitochondrial dna depletion syndrome 13 12.8
8 mitochondrial dna depletion syndrome 8a 12.8
9 mitochondrial dna depletion syndrome 6 12.8
10 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 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 12.6
22 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 12.6
23 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
24 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
25 rrm2b-related mitochondrial dna depletion syndrome 12.5
26 mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency 12.4
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 12.1
32 mpv17-related mitochondrial dna maintenance defect 11.8
33 deoxyguanosine kinase deficiency 11.7
34 tk2-related mitochondrial dna maintenance defect, myopathic form 11.3
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 10.0 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 maternally-inherited progressive external ophthalmoplegia 10.0 POLG TWNK
43 mitochondrial encephalomyopathy 10.0 FBXL4 SUCLA2 SUCLG1
44 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.0 POLG TWNK
45 diabetic polyneuropathy 9.9 POLG TWNK
46 3-methylglutaconic aciduria, type v 9.9 POLG TWNK
47 ocular motility disease 9.9 POLG TWNK
48 cystathioninuria 9.9
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
50 glycogen storage disease 9.9

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:

46
# 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

Anatomical Context for Mitochondrial Dna Depletion Syndrome

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome:

41
Liver, Brain, Bone, Eye

Publications for Mitochondrial Dna Depletion Syndrome

Articles related to Mitochondrial Dna Depletion Syndrome:

(show top 50) (show all 55)
# Title Authors Year
1
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. ( 30157269 )
2018
2
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. ( 27743463 )
2017
3
MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. ( 28673863 )
2017
4
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. ( 29137425 )
2017
5
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited. ( 29473055 )
2016
6
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. ( 27536553 )
2016
7
[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]. ( 27324545 )
2016
8
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
9
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. ( 27182039 )
2016
10
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. ( 25861990 )
2015
11
Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. ( 24423689 )
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
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome. ( 24266892 )
2013
17
Liver pathology in infantile mitochondrial DNA depletion syndrome. ( 24050659 )
2013
18
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome. ( 24148156 )
2013
19
Mitochondrial DNA depletion syndrome-an unusual reason for interstage attrition after the modified stage 1 Norwood operation. ( 22011012 )
2013
20
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. ( 23932787 )
2013
21
Adult mitochondrial DNA depletion syndrome with mild manifestations. ( 23888212 )
2013
22
Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Is Associated with Neonatal Cholestasis and Liver Failure. ( 24321534 )
2013
23
DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease. ( 22868686 )
2013
24
Pyruvate therapy for mitochondrial DNA depletion syndrome. ( 21855607 )
2012
25
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. ( 22824774 )
2012
26
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. ( 23141463 )
2012
27
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. ( 22980518 )
2012
28
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. ( 22011815 )
2011
29
Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome. ( 20440651 )
2010
30
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. ( 20074988 )
2010
31
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. ( 20421844 )
2010
32
Quantitative evaluation of the mitochondrial DNA depletion syndrome. ( 20448188 )
2010
33
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. ( 19094978 )
2009
34
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. ( 19394258 )
2009
35
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
36
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. ( 18504129 )
2008
37
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. ( 18695062 )
2008
38
Liver failure in mitochondrial DNA depletion syndrome: the importance of serial neuroimaging in liver transplantation evaluation. ( 17667724 )
2007
39
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. ( 16908739 )
2006
40
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. ( 15887277 )
2005
41
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. ( 15883261 )
2005
42
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. ( 15639197 )
2005
43
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. ( 14734888 )
2004
44
Conjugated hyperbilirubinemia in infancy (mitochondrial DNA depletion syndrome, liver). ( 15630532 )
2004
45
Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome. ( 14623087 )
2003
46
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
47
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. ( 11584375 )
2001
48
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? ( 11431741 )
2001
49
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. ( 10393838 )
1999
50
Molecular mechanisms in mitochondrial DNA depletion syndrome. ( 9175742 )
1997

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 TK2 NM_004614.4(TK2): c.416C> T (p.Ala139Val) single nucleotide variant Pathogenic/Likely pathogenic rs281865494 GRCh37 Chromosome 16, 66562930: 66562930
2 TK2 NM_004614.4(TK2): c.416C> T (p.Ala139Val) single nucleotide variant Pathogenic/Likely pathogenic rs281865494 GRCh38 Chromosome 16, 66529027: 66529027
3 FBXL4 NM_012160.4(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 GRCh37 Chromosome 6, 99347158: 99347158
4 FBXL4 NM_012160.4(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 GRCh38 Chromosome 6, 98899282: 98899282
5 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh37 Chromosome 10, 102748606: 102748606
6 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh38 Chromosome 10, 100988849: 100988849
7 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh37 Chromosome 10, 102750621: 102750621
8 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh38 Chromosome 10, 100990864: 100990864
9 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh37 Chromosome 10, 102750623: 102750623
10 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh38 Chromosome 10, 100990866: 100990866
11 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh37 Chromosome 10, 102747363: 102747363
12 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh38 Chromosome 10, 100987606: 100987606
13 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh37 Chromosome 10, 102752933: 102752933
14 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh38 Chromosome 10, 100993176: 100993176
15 DGUOK NM_080916.2(DGUOK): c.159G> A (p.Thr53=) single nucleotide variant Benign/Likely benign rs62641680 GRCh37 Chromosome 2, 74166053: 74166053
16 DGUOK NM_080916.2(DGUOK): c.159G> A (p.Thr53=) single nucleotide variant Benign/Likely benign rs62641680 GRCh38 Chromosome 2, 73938926: 73938926
17 DGUOK NM_080916.2(DGUOK): c.423G> A (p.Glu141=) single nucleotide variant Benign/Likely benign rs1804599 GRCh37 Chromosome 2, 74174013: 74174013
18 DGUOK NM_080916.2(DGUOK): c.423G> A (p.Glu141=) single nucleotide variant Benign/Likely benign rs1804599 GRCh38 Chromosome 2, 73946886: 73946886
19 DGUOK NM_080916.2(DGUOK): c.*13A> T single nucleotide variant Benign rs4777 GRCh37 Chromosome 2, 74185876: 74185876
20 DGUOK NM_080916.2(DGUOK): c.*13A> T single nucleotide variant Benign rs4777 GRCh38 Chromosome 2, 73958749: 73958749
21 DGUOK NM_080916.2(DGUOK): c.-48G> A single nucleotide variant Benign/Likely benign rs10186730 GRCh37 Chromosome 2, 74153990: 74153990
22 DGUOK NM_080916.2(DGUOK): c.-48G> A single nucleotide variant Benign/Likely benign rs10186730 GRCh38 Chromosome 2, 73926863: 73926863
23 TK2 NM_004614.4(TK2): c.156+15T> C single nucleotide variant Benign/Likely benign rs80083556 GRCh38 Chromosome 16, 66548963: 66548963
24 TK2 NM_004614.4(TK2): c.156+15T> C single nucleotide variant Benign/Likely benign rs80083556 GRCh37 Chromosome 16, 66582866: 66582866
25 TK2 NM_004614.4(TK2): c.700-13G> A single nucleotide variant Benign/Likely benign rs16956600 GRCh38 Chromosome 16, 66512079: 66512079
26 TK2 NM_004614.4(TK2): c.700-13G> A single nucleotide variant Benign/Likely benign rs16956600 GRCh37 Chromosome 16, 66545982: 66545982
27 TK2 NM_004614.4(TK2): c.-38A> G single nucleotide variant Benign rs3743716 GRCh38 Chromosome 16, 66550099: 66550099
28 TK2 NM_004614.4(TK2): c.-38A> G single nucleotide variant Benign rs3743716 GRCh37 Chromosome 16, 66584002: 66584002
29 TK2 NM_004614.4(TK2): c.-30C> G single nucleotide variant Benign rs3743715 GRCh38 Chromosome 16, 66550091: 66550091
30 TK2 NM_004614.4(TK2): c.-30C> G single nucleotide variant Benign rs3743715 GRCh37 Chromosome 16, 66583994: 66583994
31 TK2 NM_004614.4(TK2): c.157-12G> A single nucleotide variant Benign/Likely benign rs117229729 GRCh38 Chromosome 16, 66541965: 66541965
32 TK2 NM_004614.4(TK2): c.157-12G> A single nucleotide variant Benign/Likely benign rs117229729 GRCh37 Chromosome 16, 66575868: 66575868
33 RRM2B NM_015713.4(RRM2B): c.207C> T (p.Val69=) single nucleotide variant Benign rs28999710 GRCh37 Chromosome 8, 103238260: 103238260
34 RRM2B NM_015713.4(RRM2B): c.207C> T (p.Val69=) single nucleotide variant Benign rs28999710 GRCh38 Chromosome 8, 102226032: 102226032
35 RRM2B NM_015713.4(RRM2B): c.790-8C> A single nucleotide variant Benign rs376542259 GRCh37 Chromosome 8, 103225125: 103225125
36 RRM2B NM_015713.4(RRM2B): c.790-8C> A single nucleotide variant Benign rs376542259 GRCh38 Chromosome 8, 102212897: 102212897
37 SUCLA2 NM_003850.2(SUCLA2): c.371+9C> T single nucleotide variant Benign rs6561424 GRCh37 Chromosome 13, 48563008: 48563008
38 SUCLA2 NM_003850.2(SUCLA2): c.371+9C> T single nucleotide variant Benign rs6561424 GRCh38 Chromosome 13, 47988873: 47988873
39 SUCLA2 NM_003850.2(SUCLA2): c.510A> G (p.Ala170=) single nucleotide variant Benign/Likely benign rs35568795 GRCh37 Chromosome 13, 48562700: 48562700
40 SUCLA2 NM_003850.2(SUCLA2): c.510A> G (p.Ala170=) single nucleotide variant Benign/Likely benign rs35568795 GRCh38 Chromosome 13, 47988565: 47988565
41 SUCLA2 NM_003850.2(SUCLA2): c.595T> A (p.Ser199Thr) single nucleotide variant Benign rs7320366 GRCh37 Chromosome 13, 48547467: 48547467
42 SUCLA2 NM_003850.2(SUCLA2): c.595T> A (p.Ser199Thr) single nucleotide variant Benign rs7320366 GRCh38 Chromosome 13, 47973332: 47973332
43 SUCLA2 NM_003850.2(SUCLA2): c.789T> C (p.Asp263=) single nucleotide variant Conflicting interpretations of pathogenicity rs57270175 GRCh37 Chromosome 13, 48542743: 48542743
44 SUCLA2 NM_003850.2(SUCLA2): c.789T> C (p.Asp263=) single nucleotide variant Conflicting interpretations of pathogenicity rs57270175 GRCh38 Chromosome 13, 47968608: 47968608
45 SUCLA2 NM_003850.2(SUCLA2): c.1099G> A (p.Asp367Asn) single nucleotide variant Benign/Likely benign rs117412559 GRCh37 Chromosome 13, 48528283: 48528283
46 SUCLA2 NM_003850.2(SUCLA2): c.1099G> A (p.Asp367Asn) single nucleotide variant Benign/Likely benign rs117412559 GRCh38 Chromosome 13, 47954148: 47954148
47 SUCLA2 NM_003850.2(SUCLA2): c.110T> G (p.Leu37Trp) single nucleotide variant Benign/Likely benign rs62636645 GRCh37 Chromosome 13, 48571139: 48571139
48 SUCLA2 NM_003850.2(SUCLA2): c.110T> G (p.Leu37Trp) single nucleotide variant Benign/Likely benign rs62636645 GRCh38 Chromosome 13, 47997004: 47997004
49 SUCLA2 NM_003850.2(SUCLA2): c.256A> G (p.Ile86Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61756204 GRCh37 Chromosome 13, 48570993: 48570993
50 SUCLA2 NM_003850.2(SUCLA2): c.256A> G (p.Ile86Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61756204 GRCh38 Chromosome 13, 47996858: 47996858

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:

37
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Purine metabolism hsa00230
3 Citrate cycle (TCA cycle) hsa00020

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 DGUOK RRM2B TK2
2
Show member pathways
11.77 DGUOK RRM2B TK2
3
Show member pathways
10.99 DGUOK RRM2B TK2
4 10.83 SUCLA2 SUCLG1
5
Show member pathways
10.48 SUCLA2 SUCLG1
6 10.23 POLG RRM2B

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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