MCID: MTC010
MIFTS: 41

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 12 54 38 30 6 41
Mtdna Depletion Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070329
KEGG 38 H00469

Summaries for Mitochondrial Dna Depletion Syndrome

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by variants in the nuclear genes involved in mtDNA maintenance, resulting in impaired mtDNA synthesis and leading to a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA, thus resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, also known as mtdna 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, brain and bone, 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 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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 3 34.3 DGUOK TWNK
2 mitochondrial dna depletion syndrome 4a 33.7 DGUOK POLG TWNK
3 succinate-coa ligase deficiency 32.3 SUCLA2 SUCLG1
4 coenzyme q10 deficiency disease 29.8 POLG TK2
5 mitochondrial dna depletion syndrome 8a 12.9
6 mitochondrial dna depletion syndrome 13 12.9
7 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 12.8
8 mitochondrial dna depletion syndrome 6 12.8
9 mitochondrial dna depletion syndrome 7 12.8
10 mitochondrial dna depletion syndrome 5 12.8
11 mitochondrial dna depletion syndrome 2 12.8
12 mitochondrial dna depletion syndrome 1 12.8
13 mitochondrial dna depletion syndrome 9 12.8
14 mitochondrial dna depletion syndrome 4b 12.8
15 mitochondrial dna depletion syndrome 11 12.7
16 mitochondrial dna depletion syndrome 12b , autosomal recessive 12.7
17 mitochondrial dna depletion syndrome 14 12.7
18 mitochondrial dna depletion syndrome 12a , autosomal dominant 12.7
19 mitochondrial dna depletion syndrome 15 12.7
20 rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy 12.7
21 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 12.7
22 tk2-related mitochondrial dna depletion syndrome, myopathic form 12.7
23 rrm2b-related mitochondrial dna depletion syndrome 12.5
24 mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency 12.5
25 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.4
26 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.4
27 mitochondrial dna depletion syndrome 12a 12.4
28 mitochondrial dna depletion syndrome 12b 12.4
29 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.4
30 mitochondrial dna depletion syndrome, hepatocerebrorenal form 12.4
31 sengers syndrome 12.2
32 deoxyguanosine kinase deficiency 11.8
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 neutrophil actin dysfunction 9.9
45 diabetic polyneuropathy 9.9 POLG TWNK
46 cystathioninuria 9.9
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
48 glycogen storage disease 9.9
49 cholestasis 9.9
50 methylmalonic acidemia 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:

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, Bone, Eye, Neutrophil

Publications for Mitochondrial Dna Depletion Syndrome

Articles related to Mitochondrial Dna Depletion Syndrome:

(show top 50) (show all 60)
# 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
A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. ( 30404003 )
2018
4
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. ( 27743463 )
2017
5
MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. ( 28673863 )
2017
6
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. ( 29137425 )
2017
7
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. ( 28812460 )
2017
8
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome. ( 28973153 )
2017
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
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. ( 27536553 )
2016
12
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited. ( 29473055 )
2016
13
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. ( 26925861 )
2016
14
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome. ( 27660820 )
2016
15
[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]. ( 27324545 )
2016
16
Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. ( 24423689 )
2015
17
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. ( 25205723 )
2015
18
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. ( 25861990 )
2015
19
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure. ( 24321534 )
2014
20
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. ( 23714749 )
2014
21
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome. ( 24266892 )
2014
22
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. ( 24362886 )
2014
23
Mitochondrial DNA depletion syndrome causing liver failure. ( 25129007 )
2014
24
DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease. ( 22868686 )
2013
25
Adult mitochondrial DNA depletion syndrome with mild manifestations. ( 23888212 )
2013
26
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. ( 23932787 )
2013
27
Liver pathology in infantile mitochondrial DNA depletion syndrome. ( 24050659 )
2013
28
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome. ( 24148156 )
2013
29
Mitochondrial DNA depletion syndrome-an unusual reason for interstage attrition after the modified stage 1 Norwood operation. ( 22011012 )
2013
30
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. ( 22824774 )
2012
31
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. ( 22980518 )
2012
32
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. ( 23141463 )
2012
33
Pyruvate therapy for mitochondrial DNA depletion syndrome. ( 21855607 )
2012
34
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. ( 22011815 )
2011
35
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. ( 20074988 )
2010
36
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. ( 20421844 )
2010
37
Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome. ( 20440651 )
2010
38
Quantitative evaluation of the mitochondrial DNA depletion syndrome. ( 20448188 )
2010
39
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. ( 19094978 )
2009
40
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. ( 19394258 )
2009
41
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
42
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). ( 19748572 )
2009
43
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. ( 18504129 )
2008
44
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. ( 18695062 )
2008
45
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. ( 18261905 )
2008
46
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. ( 18819985 )
2008
47
Liver failure in mitochondrial DNA depletion syndrome: the importance of serial neuroimaging in liver transplantation evaluation. ( 17667724 )
2007
48
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. ( 16908739 )
2006
49
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. ( 15887277 )
2005
50
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. ( 15639197 )
2005

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:

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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