MCID: MTC010
MIFTS: 35

Mitochondrial Dna Depletion Syndrome malady

Neuronal diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases categories

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 mitochondrial disorders. 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 (E. coli) and Nucleotide Metabolism. The compounds deoxynucleoside and deoxyribonucleotide have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are adipose tissue and muscle.

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome

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48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
mitochondrial dna depletion syndrome:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

mitochondrial dna depletion syndrome 48
mtdna depletion syndrome 48


External Ids:

ICD10 via Orphanet26 G71.3
SNOMED-CT via Orphanet57 237995002
UMLS via Orphanet61 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 48)
idRelated DiseaseScoreTop Affiliating Genes
1alpers syndrome30.7POLG, DGUOK, C10orf2
2mitochondrial disorders30.3TK2, POLG
3hepatitis30.3TYMP
4mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.9
5tk2-related mitochondrial dna depletion syndrome, myopathic form10.8
6dguok-related mitochondrial dna depletion syndrome, hepatocerebral form10.6
7sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.5
8mitochondrial dna depletion syndrome, hepatocerebral form10.5
9mitochondrial dna depletion syndrome 110.5
10mitochondrial dna depletion syndrome 310.4
11mitochondrial dna depletion syndrome 1310.4
12mitochondrial dna depletion syndrome 8a10.4
13mitochondrial dna depletion syndrome 710.4
14mitochondrial dna depletion syndrome 510.4
15mitochondrial dna depletion syndrome, myopathic form10.4
16mitochondrial dna depletion syndrome, encephalomyopathic form10.4
17mitochondrial dna depletion syndrome, mngie form10.4
18c10orf2-related mitochondrial dna depletion syndrome, hepatocerebral form10.4
19rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy10.4
20suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.4
21polg-related mitochondrial dna depletion syndrome, mngie form10.4
22mitochondrial dna depletion syndrome 910.4
23mitochondrial dna depletion syndrome 1210.4
24mitochondrial dna depletion syndrome 8b10.4
25mitochondrial dna depletion syndrome 4b10.4
26mitochondrial dna depletion syndrome 1110.4
27mitochondrial dna depletion syndrome, hepatocerebrorenal form10.4
28adult syndrome10.2
293-methylcrotonyl-coa carboxylase deficiency10.2
30cholestasis10.2
31glycogen storage disease10.2
32encephalomyopathy10.2
33succinate-coa ligase deficiency10.2
34hypogonadism10.0POLG
35pearson syndrome10.0SUCLG1
36ophthalmoplegia10.0TYMP
37coenzyme q10 deficiency disease10.0TK2, POLG
38lactic acidosis10.0SUCLG1, POLG
39neuropathy10.0POLG, C10orf2
40methylmalonic acidemia10.0SUCLA2, SUCLG1
41myopathy10.0DGUOK, POLG, TK2
42mitochondrial neurogastrointestinal encephalopathy disease10.0TYMP, POLG
43spinal muscular atrophy10.0TK2, DGUOK
44spinocerebellar ataxia10.0POLG, C10orf2
45brain disease10.0TK2, IMMT, POLG
46galactosemia10.0POLG, DGUOK
47herpes simplex10.0DGUOK, POLG, TK2
48chronic progressive external ophthalmoplegia10.0C10orf2, POLG, TYMP

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



Diseases related to mitochondrial dna depletion syndrome

Clinical Features for Mitochondrial Dna Depletion Syndrome

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Mitochondrial Dna Depletion Syndrome

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Anatomical Context for Mitochondrial Dna Depletion Syndrome

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32MalaCards
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome:

32
Eye

Animal Models for Mitochondrial Dna Depletion Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2TK2, RRM2B, POLG, MPV17
2MP:00053698.1CTH, MPV17, POLG, RRM2B, TK2
3MP:00053857.8C10orf2, CTH, MPV17, POLG, RRM2B, TK2
4MP:00053847.2TK2, C10orf2, CTH, MPV17, POLG, TYMP

Publications for Mitochondrial Dna Depletion Syndrome

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Genetic Variations for Mitochondrial Dna Depletion Syndrome

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Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome

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1BioGPS, 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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37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB
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Compounds related to Mitochondrial Dna Depletion Syndrome according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1deoxynucleoside4410.2TK2, DGUOK
2deoxyribonucleotide4410.2DGUOK, TK2
3fiau4410.2TK2, POLG
4deoxyadenosine44 2411.1TK2, DGUOK
5didanosine44 1111.0DGUOK, POLG
6inosine triphosphate44 2410.9SUCLG1, SUCLA2
7succinic acid28 11 2411.9SUCLG1, SUCLA2
8pyrimidine nucleoside449.8TYMP, TK2
9deoxyribose44 2410.8TYMP, TK2
10dctp44 2410.8POLG, DGUOK
11parathion44 2410.8DGUOK, POLG, TK2
12cidofovir44 1110.8TYMP, POLG
13dgtp44 2410.8POLG, DGUOK
14fudr449.8TYMP, TK2
152-chlorodeoxyadenosine449.7DGUOK, TK2
16purine nucleoside449.7TYMP, DGUOK
17deoxyuridine44 2410.6DGUOK, TYMP, TK2
18deoxycytidine44 2410.6TK2, TYMP, DGUOK
19dttp449.6POLG, TYMP, TK2
20thymine44 2410.6TK2, TYMP
21pyrimidine44 2410.6TK2, TYMP, DGUOK
22gemcitabine44 49 1111.5TK2, TYMP, DGUOK
23diethyl dithiocarbamate449.5TK2, POLG
24zidovudine44 1110.5POLG, TYMP, TK2
25thymidylate449.4TYMP, POLG, DGUOK
26deoxyguanosine44 2410.2TK2, TYMP, POLG, DGUOK
27nucleoside449.2TK2, TYMP, POLG, DGUOK
28thymidine44 249.9DGUOK, POLG, TYMP, RRM2B, TK2
29adp44 28 2410.8DGUOK, AGK, POLG, IMMT, RRM2B
30oxygen44 249.3MPV17, AGK, POLG, TYMP, IMMT, RRM2B
31atp44 289.3DGUOK, AGK, POLG, TYMP, IMMT, TK2

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:0426459.6POLG, C10orf2
2mitochondrial matrixGO:0057599.0DGUOK, TK2, SUCLG1, SUCLA2
3mitochondrial inner membraneGO:0057438.5SUCLG1, TK2, IMMT, POLG, MPV17
4mitochondrionGO:0057398.4DGUOK, MPV17, POLG, SUCLG1, SUCLA2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1succinyl-CoA metabolic processGO:0061049.8SUCLA2, SUCLG1
2succinate metabolic processGO:0061059.7SUCLG1, SUCLA2
3tricarboxylic acid cycleGO:0060999.7SUCLA2, SUCLG1
4mitochondrial genome maintenanceGO:0000029.7TYMP, MPV17
5pyrimidine nucleoside salvageGO:0430979.5TK2, TYMP
6pyrimidine nucleobase metabolic processGO:0062069.3TK2, TYMP
7mitochondrial DNA replicationGO:0062649.2TK2, RRM2B, POLG, C10orf2
8nucleobase-containing small molecule metabolic processGO:0550869.1DGUOK, TYMP, RRM2B, TK2
9small molecule metabolic processGO:0442817.5DGUOK, CTH, TYMP, RRM2B, TK2, SUCLG1

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

idNameGO IDScoreTop Affiliating Genes
1phosphotransferase activity, alcohol group as acceptorGO:0167739.8TK2, DGUOK
2succinate-CoA ligase (ADP-forming) activityGO:0047759.4SUCLA2, SUCLG1

Products for genes affiliated with Mitochondrial Dna Depletion Syndrome

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Sources for Mitochondrial Dna Depletion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet