MNGIE
MCID: MTC061
MIFTS: 35

Mitochondrial Dna Depletion Syndrome 1 (MNGIE) malady

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

Summaries for Mitochondrial Dna Depletion Syndrome 1

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46OMIM, 32MalaCards
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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 ophthalmoplegia. 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. Affiliated tissues include eye, and related mouse phenotype skeleton.

Description from OMIM:46 603041,612075,613662

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

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60UMLS, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46
mitochondrial neurogastrointestinal encephalopathy syndrome 60
mitochondrial neurogastrointestinal encephalomyopathy 48
mngie 48


External Ids:

ICD10 via Orphanet26 G71.3

Related Diseases for Mitochondrial Dna Depletion Syndrome 1

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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

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46OMIM
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Clinical features from OMIM:

603041,612075,613662

Clinical synopsis from OMIM:

603041

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

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32MalaCards
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 1:

32
Eye

Animal Models for Mitochondrial Dna Depletion Syndrome 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5RRM2B, TYMP, POLG

Publications for Mitochondrial Dna Depletion Syndrome 1

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Genetic Variations for Mitochondrial Dna Depletion Syndrome 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

62
id Symbol AA change Variation ID 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

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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 1

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

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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29KEGG, 12EMD Millipore, 53Reactome, 37NCBI 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

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15fluorouracil449.3TYMP, RRM2B
2cidofovir44 1110.2POLG, TYMP
3dttp449.2POLG, TYMP
4deoxyguanosine44 2410.2POLG, TYMP
5zidovudine44 1110.1POLG, TYMP
6nucleoside448.9POLG, TYMP
7thymidylate448.7POLG, TYMP
8thymidine44 249.6RRM2B, TYMP, POLG
9oxygen44 249.5RRM2B, TYMP, POLG

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Dna Depletion Syndrome 1

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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