MCID: MTC010
MIFTS: 42

Mitochondrial Dna Depletion Syndrome malady

Neuronal diseases, Eye diseases, Gastrointestinal diseases, Rare diseases categories
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Summaries for Mitochondrial Dna Depletion Syndrome

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MalaCards: Mitochondrial Dna Depletion Syndrome, also known as mtdna depletion syndrome, is related to alpers syndrome and mpv17-related hepatocerebral mitochondrial dna depletion syndrome. An important gene associated with Mitochondrial Dna Depletion Syndrome is RRM2B (ribonucleotide reductase M2 B (TP53 inducible)), and among its related pathways are superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis and Nucleotide Metabolism. The compounds fiau and Itaconic acid have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related mouse phenotypes are adipose tissue and muscle.

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome

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49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
mitochondrial dna depletion syndrome:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

mitochondrial dna depletion syndrome 49
mtdna depletion syndrome 49


External Ids:

ICD10 via Orphanet26 G71.3
SNOMED-CT via Orphanet59 237995002
UMLS via Orphanet63 C0342782

Related Diseases for Mitochondrial Dna Depletion Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Mitochondrial Dna Depletion Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1alpers syndrome30.9C10orf2, POLG, DGUOK
2mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.9
3tk2-related mitochondrial dna depletion syndrome, myopathic form10.8
4dguok-related mitochondrial dna depletion syndrome, hepatocerebral form10.7
5mitochondrial dna depletion syndrome, hepatocerebral form10.6
6sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.5
7mitochondrial dna depletion syndrome 110.5
8mitochondrial dna depletion syndrome, myopathic form10.5
9mitochondrial dna depletion syndrome, encephalomyopathic form10.5
10mitochondrial dna depletion syndrome 310.5
11mitochondrial dna depletion syndrome 1310.5
12mitochondrial dna depletion syndrome 8a10.5
13mitochondrial dna depletion syndrome 710.5
14mitochondrial dna depletion syndrome 510.5
15mitochondrial dna depletion syndrome, mngie form10.4
16c10orf2-related mitochondrial dna depletion syndrome, hepatocerebral form10.4
17rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy10.4
18suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.4
19polg-related mitochondrial dna depletion syndrome, mngie form10.4
20mitochondrial dna depletion syndrome 910.4
21mitochondrial dna depletion syndrome 1210.4
22mitochondrial dna depletion syndrome 8b10.4
23mitochondrial dna depletion syndrome 4b10.4
24mitochondrial dna depletion syndrome 1110.4
25mitochondrial dna depletion syndrome, hepatocerebrorenal form10.4
26cholestasis10.2
27glycogen storage disease10.2
28hepatitis10.2
29encephalomyopathy10.2
30uniparental disomy of chromosome 210.2
31succinate-coa ligase deficiency10.2
32maternal uniparental disomy of chromosome 210.2
33kearns-sayre syndrome10.1TYMP
34coenzyme q10 deficiency disease10.1TK2, POLG
35mitochondrial disorders10.1TK2, POLG
36methylmalonic acidemia10.1SUCLG1, SUCLA2
37mitochondrial neurogastrointestinal encephalopathy disease10.1TYMP, POLG
38lactic acidosis10.0SUCLG1, POLG
39galactosemia10.0DGUOK, POLG
40spinal muscular atrophy10.0DGUOK, TK2
41chronic progressive external ophthalmoplegia10.0POLG, TYMP, C10orf2
42herpes simplex10.0POLG, DGUOK, TK2
43brain disease10.0POLG, TK2, IMMT
44spinocerebellar ataxia10.0C10orf2, POLG
45myopathy10.0TK2, DGUOK, POLG

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



Diseases related to mitochondrial dna depletion syndrome

Symptoms for Mitochondrial Dna Depletion Syndrome

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome

Genetic Tests for Mitochondrial Dna Depletion Syndrome

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Anatomical Context for Mitochondrial Dna Depletion Syndrome

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33MalaCards
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome:

33
Eye, Liver

Animal Models for Mitochondrial Dna Depletion Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.4TK2, POLG, RRM2B, MPV17
2MP:00053698.2MPV17, RRM2B, POLG, TK2, CTH
3MP:00053858.1C10orf2, MPV17, RRM2B, POLG, TK2, CTH
4MP:00053847.8CTH, C10orf2, TYMP, MPV17, RRM2B, POLG

Publications for Mitochondrial Dna Depletion Syndrome

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52PubMed
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Articles related to Mitochondrial Dna Depletion Syndrome:

(show all 42)
idTitleAuthorsYear
1
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. (24362886)
2014
2
Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome. (24423689)
2014
3
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. (23714749)
2014
4
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome. (24148156)
2013
5
Liver pathology in infantile mitochondrial DNA depletion syndrome. (24050659)
2013
6
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome. (24266892)
2013
7
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. (23932787)
2013
8
Adult mitochondrial DNA depletion syndrome with mild manifestations. (23888212)
2013
9
DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease. (22868686)
2013
10
Mitochondrial DNA depletion syndrome-an unusual reason for interstage attrition after the modified stage 1 Norwood operation. (22011012)
2013
11
Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Is Associated with Neonatal Cholestasis and Liver Failure. (24321534)
2013
12
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. (23141463)
2012
13
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. (22980518)
2012
14
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. (22824774)
2012
15
Pyruvate therapy for mitochondrial DNA depletion syndrome. (21855607)
2012
16
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. (22011815)
2011
17
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. (20421844)
2010
18
Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome. (20440651)
2010
19
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. (20074988)
2010
20
Quantitative evaluation of the mitochondrial DNA depletion syndrome. (20448188)
2010
21
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
22
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. (19094978)
2009
23
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. (19394258)
2009
24
Clinical and molecular features of mitochondrial DNA depletion syndromes. (19125351)
2009
25
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. (18695062)
2008
26
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. (18504129)
2008
27
Liver failure in mitochondrial DNA depletion syndrome: the importance of serial neuroimaging in liver transplantation evaluation. (17667724)
2007
28
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. (16908739)
2006
29
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. (15883261)
2005
30
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. (15887277)
2005
31
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. (15639197)
2005
32
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. (14734888)
2004
33
Conjugated hyperbilirubinemia in infancy (mitochondrial DNA depletion syndrome, liver). (15630532)
2004
34
Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome. (14623087)
2003
35
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
36
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? (11431741)
2001
37
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. (11584375)
2001
38
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. (10393838)
1999
39
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form (23230576)
1993
40
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria (20301762)
1993
41
MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome (22593919)
1993
42
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form (20301766)
1993

Variations for Mitochondrial Dna Depletion Syndrome

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Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Dna Depletion Syndrome

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

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 55Reactome, 60Thomson Reuters
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Pathways related to Mitochondrial Dna Depletion Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
CMP phosphorylation38
UTP and CTP dephosphorylation I38
UTP and CTP de novo biosynthesis38
guanosine deoxyribonucleotides de novo biosynthesis38
pyrimidine deoxyribonucleotides de novo biosynthesis38
superpathway of pyrimidine deoxyribonucleoside salvage38
adenosine deoxyribonucleotides de novo biosynthesis38
superpathway of pyrimidine ribonucleotides de novo biosynthesis38
pyrimidine deoxyribonucleosides salvage38
pyrimidine deoxyribonucleotide phosphorylation38
pyrimidine deoxyribonucleotides biosynthesis from CTP38
10.0TK2, RRM2B
29.9RRM2B, POLG
3
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
9.8SUCLA2, SUCLG1
4
Show member pathways
aspartate biosynthesis38
9.8SUCLA2, SUCLG1
5
Show member pathways
9.7TK2, TYMP
6
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
9.1TYMP, RRM2B, DGUOK, TK2
7
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
9.1TYMP, RRM2B, DGUOK, TK2
8
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.0CTH, SUCLA2, SUCLG1
9
Show member pathways
7.0AGK, TYMP, RRM2B, SUCLG1, SUCLA2, POLG

Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 29IUPHAR
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Compounds related to Mitochondrial Dna Depletion Syndrome according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1fiau4510.2TK2, POLG
2Itaconic acid2410.2SUCLA2, SUCLG1
3Itaconyl-CoA2410.2SUCLA2, SUCLG1
4deoxynucleoside4510.2TK2, DGUOK
5deoxyribonucleotide4510.2TK2, DGUOK
6Succinyl-CoA2410.1SUCLA2, SUCLG1
7deoxyadenosine45 2411.1TK2, DGUOK
8IDP2410.1SUCLA2, SUCLG1
9cidofovir45 1111.0POLG, TYMP
10deoxyribose45 2411.0TYMP, TK2
11didanosine45 51 1112.0POLG, DGUOK
12inosine triphosphate45 2411.0SUCLG1, SUCLA2
13pyrimidine nucleoside4510.0TYMP, TK2
14fudr459.9TYMP, TK2
15succinic acid29 24 1111.9SUCLG1, SUCLA2
16cytarabine45 51 1111.9TK2, DGUOK, RRM2B
17parathion45 2410.9POLG, DGUOK, TK2
18dctp45 2410.8DGUOK, POLG
19dttp459.8TYMP, POLG, TK2
20purine nucleoside459.8DGUOK, TYMP
21dgtp45 2410.8DGUOK, POLG
22deoxyuridine45 2410.8TYMP, DGUOK, TK2
23deoxycytidine45 2410.8TK2, DGUOK, TYMP
24zidovudine45 51 1111.8TYMP, POLG, TK2
25Guanosine diphosphate249.7SUCLA2, SUCLG1, RRM2B
26thymine45 2410.7TK2, TYMP
27pyrimidine45 2410.7TYMP, DGUOK, TK2
282-chlorodeoxyadenosine459.7DGUOK, TK2
29gemcitabine45 51 1111.7TK2, DGUOK, TYMP
30thymidylate459.6TYMP, POLG, DGUOK
31diethyl dithiocarbamate459.6TK2, POLG
32deoxyguanosine45 2410.5TK2, DGUOK, POLG, TYMP
33nucleoside459.5TK2, DGUOK, POLG, TYMP
34thymidine45 2410.2TYMP, RRM2B, POLG, DGUOK, TK2
35adp45 29 2411.0RRM2B, POLG, DGUOK, AGK, IMMT
36oxygen45 249.7TYMP, MPV17, RRM2B, POLG, AGK, IMMT
37atp45 299.6TYMP, POLG, DGUOK, TK2, AGK, IMMT

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome

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16Gene Ontology
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Cellular components related to Mitochondrial Dna Depletion Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.9POLG, C10orf2
2mitochondrial matrixGO:0057598.9TK2, DGUOK, SUCLA2, SUCLG1
3mitochondrial inner membraneGO:0057438.6MPV17, SUCLG1, POLG, TK2, IMMT
4mitochondrionGO:0057397.4IMMT, MGME1, MPV17, SUCLG1, SUCLA2, POLG

Biological processes related to Mitochondrial Dna Depletion Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1succinyl-CoA metabolic processGO:0061049.9SUCLA2, SUCLG1
2deoxyribonucleoside monophosphate biosynthetic processGO:0091579.9TK2, DGUOK
3tricarboxylic acid cycleGO:0060999.8SUCLA2, SUCLG1
4pyrimidine nucleoside salvageGO:0430979.7TYMP, TK2
5succinate metabolic processGO:0061059.7SUCLG1, SUCLA2
6mitochondrial DNA replicationGO:0062649.6TK2, POLG, RRM2B, C10orf2
7pyrimidine nucleobase metabolic processGO:0062069.4TK2, TYMP
8mitochondrial genome maintenanceGO:0000029.3MPV17, TYMP, MGME1
9nucleobase-containing small molecule metabolic processGO:0550869.3TYMP, RRM2B, DGUOK, TK2
10small molecule metabolic processGO:0442817.8TYMP, RRM2B, SUCLG1, SUCLA2, DGUOK, TK2

Molecular functions related to Mitochondrial Dna Depletion Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1succinate-CoA ligase (ADP-forming) activityGO:0047759.7SUCLA2, SUCLG1
2phosphotransferase activity, alcohol group as acceptorGO:0167739.5TK2, DGUOK
3ATP bindingGO:0055248.9AGK, TK2, DGUOK, SUCLA2, C10orf2

Products for genes affiliated with Mitochondrial Dna Depletion Syndrome

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Sources for Mitochondrial Dna Depletion Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet