MNGIE
MCID: MTC061
MIFTS: 24

Mitochondrial Dna Depletion Syndrome 1 (MNGIE) malady

Neuronal, Eye, Gastrointestinal, Metabolic categories

Summaries for Mitochondrial Dna Depletion Syndrome 1

Sources:
47OMIM, 33MalaCards
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MalaCards: Mitochondrial Dna Depletion Syndrome 1, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, is related to mitochondrial neurogastrointestinal encephalopathy disease and mitochondrial disorders. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (thymidine phosphorylase), and among its related pathways are Purine metabolism and Purine metabolism. The compounds 5fluorouracil and cidofovir have been mentioned in the context of this disorder. Related mouse phenotype skeleton.

Description from OMIM:47 603041,612075,613662

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

Sources:
61UMLS, 49Orphanet, 47OMIM, 26ICD10 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 neurogastrointestinal encephalomyopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Adult


Aliases & Descriptions:

mitochondrial dna depletion syndrome 1 47
mitochondrial neurogastrointestinal encephalopathy syndrome 61
mitochondrial neurogastrointestinal encephalomyopathy 49
mngie 49


External Ids:

ICD10 via Orphanet26 G71.3

Related Diseases for Mitochondrial Dna Depletion Syndrome 1

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 1:



Diseases related to mitochondrial dna depletion syndrome 1

Clinical Features for Mitochondrial Dna Depletion Syndrome 1

Sources:
47OMIM
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Clinical features from OMIM:

603041,612075,613662

Clinical synopsis from OMIM:

603041

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

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

Search CenterWatch for Mitochondrial Dna Depletion Syndrome 1

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Dna Depletion Syndrome 1

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

Search CenterWatch for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

Animal Models for Mitochondrial Dna Depletion Syndrome 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5RRM2B, TYMP, POLG

Publications for Mitochondrial Dna Depletion Syndrome 1

Genetic Variations for Mitochondrial Dna Depletion Syndrome 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

63
id Symbol AA change Variation SNP ID
1TYMPp.Gly145ArgVAR_007643
2TYMPp.Gly153SerVAR_007644
3TYMPp.Lys222ArgVAR_007645
4TYMPp.Glu289AlaVAR_007646
5TYMPp.Arg44GlnVAR_016777

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 1.

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

Sources:
30KEGG, 12EMD Millipore, 54Reactome, 38NCBI BioSystems Database
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Pathways related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3RRM2B, TYMP
2
Hide members
9.3RRM2B, TYMP
39.1RRM2B, POLG

Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15fluorouracil459.3TYMP, RRM2B
2cidofovir45 1110.2POLG, TYMP
3dttp459.2POLG, TYMP
4deoxyguanosine45 2410.2POLG, TYMP
5zidovudine45 1110.1POLG, TYMP
6nucleoside458.9POLG, TYMP
7thymidylate458.7POLG, TYMP
8thymidine45 249.6RRM2B, TYMP, POLG
9oxygen45 249.5RRM2B, TYMP, POLG

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

Sources:
16Gene Ontology
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Biological processes related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleobase-containing small molecule metabolic processGO:0550869.3RRM2B, TYMP
2mitochondrial DNA replicationGO:0062648.8RRM2B, POLG

Products for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Dna Depletion Syndrome 1

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