MCID: MTC010
MIFTS: 29

Mitochondrial Dna Depletion Syndrome malady

Neuronal, Eye, Gastrointestinal, Metabolic categories

Summaries for Mitochondrial Dna Depletion Syndrome

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33MalaCards
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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. Related mouse phenotypes are adipose tissue and muscle.

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome

Sources:
49Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Gastrointestinal, Metabolic


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 Orphanet58 237995002
UMLS via Orphanet62 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
3mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.9
4tk2-related mitochondrial dna depletion syndrome, myopathic form10.8
5dguok-related mitochondrial dna depletion syndrome, hepatocerebral form10.6
6n syndrome10.6
7char syndrome10.5
8mitochondrial dna depletion syndrome, hepatocerebral form10.5
9mitochondrial dna depletion syndrome 110.5
10sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.5
11mitochondrial dna depletion syndrome 310.5
12mitochondrial dna depletion syndrome 8a10.5
13mitochondrial dna depletion syndrome 710.5
14mitochondrial dna depletion syndrome 510.5
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 1310.4
25mitochondrial dna depletion syndrome 8b10.4
26mitochondrial dna depletion syndrome 4b10.4
27mitochondrial dna depletion syndrome 1110.4
28mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies10.4
29mitochondrial dna depletion syndrome, hepatocerebrorenal form10.4
30adult syndrome10.2
31encephalomyopathy10.2
32succinate-coa ligase deficiency10.2
33hypogonadism10.0POLG
34pearson syndrome10.0SUCLG1
35ophthalmoplegia10.0TYMP
36coenzyme q10 deficiency disease10.0TK2, POLG
37lactic acidosis10.0SUCLG1, POLG
38neuropathy10.0POLG, C10orf2
39hepatitis10.0TYMP
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

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mitochondrial Dna Depletion Syndrome

Anatomical Context for Mitochondrial Dna Depletion Syndrome

Animal Models for Mitochondrial Dna Depletion Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome:

37
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

Genetic Variations for Mitochondrial Dna Depletion Syndrome

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome

Sources:
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

Sources:
38NCBI BioSystems Database, 54Reactome, 50PharmGKB, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB
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Compounds related to Mitochondrial Dna Depletion Syndrome according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1deoxynucleoside4510.2TK2, DGUOK
2deoxyribonucleotide4510.2DGUOK, TK2
3fiau4510.2TK2, POLG
4deoxyadenosine45 2411.1TK2, DGUOK
5didanosine45 1111.0DGUOK, POLG
6inosine triphosphate45 2410.9SUCLG1, SUCLA2
7succinic acid29 11 2411.9SUCLG1, SUCLA2
8pyrimidine nucleoside459.8TYMP, TK2
9deoxyribose45 2410.8TYMP, TK2
10dctp45 2410.8POLG, DGUOK
11parathion45 2410.8DGUOK, POLG, TK2
12cidofovir45 1110.8TYMP, POLG
13dgtp45 2410.8POLG, DGUOK
14fudr459.8TYMP, TK2
152-chlorodeoxyadenosine459.7DGUOK, TK2
16purine nucleoside459.7TYMP, DGUOK
17deoxyuridine45 2410.6DGUOK, TYMP, TK2
18deoxycytidine45 2410.6TK2, TYMP, DGUOK
19dttp459.6POLG, TYMP, TK2
20thymine45 2410.6TK2, TYMP
21pyrimidine45 2410.6TK2, TYMP, DGUOK
22gemcitabine45 50 1111.5TK2, TYMP, DGUOK
23diethyl dithiocarbamate459.5TK2, POLG
24zidovudine45 1110.5POLG, TYMP, TK2
25thymidylate459.4TYMP, POLG, DGUOK
26deoxyguanosine45 2410.2TK2, TYMP, POLG, DGUOK
27nucleoside459.2TK2, TYMP, POLG, DGUOK
28thymidine45 249.9DGUOK, POLG, TYMP, RRM2B, TK2
29adp45 29 2410.8DGUOK, AGK, POLG, IMMT, RRM2B
30oxygen45 249.3MPV17, AGK, POLG, TYMP, IMMT, RRM2B
31atp45 299.3DGUOK, AGK, POLG, TYMP, IMMT, TK2

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet