MNGIE
MCID: MTC061
MIFTS: 35

Mitochondrial Dna Depletion Syndrome 1 (MNGIE) malady

Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Rare diseases categories
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Summaries for Mitochondrial Dna Depletion Syndrome 1

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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 cisplatin and cidofovir have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are adipose tissue and skeleton.

Description from OMIM:47 603041,612075,613662

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

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62UMLS, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:



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 62
mitochondrial neurogastrointestinal encephalomyopathy 49
mngie 49


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

Symptoms for Mitochondrial Dna Depletion Syndrome 1

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47OMIM
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Symptoms by clinical synopsis from OMIM:

603041

Clinical features from OMIM:

603041,612075,613662

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Dna Depletion Syndrome 1

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 1:

33
Eye

Animal Models for Mitochondrial Dna Depletion Syndrome 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1POLG, RRM2B
2MP:00053908.6POLG, RRM2B, TYMP
3MP:00053878.6POLG, RRM2B, TYMP
4MP:00053848.5TYMP, RRM2B, POLG
5MP:00036318.4POLG, RRM2B, TYMP
6MP:00053768.2POLG, RRM2B, TYMP

Publications for Mitochondrial Dna Depletion Syndrome 1

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Variations for Mitochondrial Dna Depletion Syndrome 1

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

64
id Symbol AA change Variation ID SNP ID
1TYMPp.Gly145ArgVAR_007643
2TYMPp.Gly153SerVAR_007644
3TYMPp.Lys222ArgVAR_007645
4TYMPp.Glu289AlaVAR_007646
5TYMPp.Arg44GlnVAR_016777

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.752C> T (p.Thr251Ile)single nucleotide variantPathogenicrs113994094GRCh37Chr 15, 89873415: 89873415
2POLGNM_002693.2(POLG): c.1760C> T (p.Pro587Leu)single nucleotide variantPathogenicrs113994096GRCh37Chr 15, 89868870: 89868870
3MT-TKm.8313G> Asingle nucleotide variantPathogenicrs118192101GRCh37Chr MT, 8313: 8313

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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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 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG
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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
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
9.3RRM2B, TYMP
2
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
9.3RRM2B, TYMP
39.1POLG, RRM2B
4
Show member pathways
8.5POLG, RRM2B, TYMP

Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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45Novoseek, 51PharmGKB, 61Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cisplatin45 51 61 1112.3RRM2B, TYMP
2cidofovir45 1110.3POLG, TYMP
3dttp459.2POLG, TYMP
4deoxyguanosine45 2410.2TYMP, POLG
5zidovudine45 51 1111.1POLG, TYMP
6nucleoside459.0POLG, TYMP
75fluorouracil459.0RRM2B, TYMP
8thymidylate458.9TYMP, POLG
9thymidine45 249.7POLG, RRM2B, TYMP
10oxygen45 249.6TYMP, RRM2B, 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:0062648.8POLG, RRM2B

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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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