MNGIE
MCID: MTC061
MIFTS: 35

Mitochondrial Dna Depletion Syndrome 1 (MNGIE) malady

Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Rare diseases categories

Summaries for Mitochondrial Dna Depletion Syndrome 1

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48OMIM, 34MalaCards
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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:48 603041,612075,613662

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

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63UMLS, 50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 48
mitochondrial neurogastrointestinal encephalopathy syndrome 63
mitochondrial neurogastrointestinal encephalomyopathy 50
mngie 50


External Ids:

ICD10 via Orphanet27 G71.3

Related Diseases for Mitochondrial Dna Depletion Syndrome 1

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

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Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

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34MalaCards
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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 1:

34
Eye

Animal Models for Mitochondrial Dna Depletion Syndrome 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

38
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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65UniProtKB/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:

65
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, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 31KEGG
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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 II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
9.3RRM2B, TYMP
2
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
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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46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank, 25HMDB
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Compounds related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cisplatin46 52 62 1212.3RRM2B, TYMP
2cidofovir46 1210.3POLG, TYMP
3dttp469.2POLG, TYMP
4deoxyguanosine46 2510.2TYMP, POLG
5zidovudine46 52 1211.1POLG, TYMP
6nucleoside469.0POLG, TYMP
75fluorouracil469.0RRM2B, TYMP
8thymidylate468.9TYMP, POLG
9thymidine46 259.7POLG, RRM2B, TYMP
10oxygen46 259.6TYMP, RRM2B, POLG

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 1

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet