MCID: PRN024
MIFTS: 20

Purine-Pyrimidine Metabolic Disorder malady

Summaries for Purine-Pyrimidine Metabolic Disorder

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8Disease Ontology, 33MalaCards
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Disease Ontology:8 An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.

MalaCards: Purine-Pyrimidine Metabolic Disorder, also known as inborn errors of purine-pyrimidine metabolism, is related to dihydropyrimidine dehydrogenase deficiency and colorectal cancer. An important gene associated with Purine-Pyrimidine Metabolic Disorder is APRT (adenine phosphoribosyltransferase), and among its related pathways are Purine metabolism and Purine metabolism. The compounds orotic acid and molybdenum have been mentioned in the context of this disorder.

Aliases & Classifications for Purine-Pyrimidine Metabolic Disorder

Sources:
8Disease Ontology, 57SNOMED-CT, 27ICD9CM, 35MeSH, 61UMLS
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Aliases & Descriptions:

purine-pyrimidine metabolic disorder 8
inborn errors of purine-pyrimidine metabolism 8


External Ids:

Disease Ontology8 DOID:653
ICD9CM27 277.2
MeSH35 D011686

Related Diseases for Purine-Pyrimidine Metabolic Disorder

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17GeneCards, 18GeneDecks
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Diseases related to Purine-Pyrimidine Metabolic Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dihydropyrimidine dehydrogenase deficiency30.5ADSL, DPYD
2colorectal cancer10.0APRT, DPYD
3brain disease10.0DPYD, ADSL
4lesch-nyhan syndrome10.0APRT, ADSL
5epilepsy syndrome10.0DPYD, ADSL
6gout10.0ADSL, APRT
7metabolic syndrome x10.0DPYD, APRT, ADSL

Graphical network of diseases related to Purine-Pyrimidine Metabolic Disorder:



Diseases related to purine-pyrimidine metabolic disorder

Clinical Features for Purine-Pyrimidine Metabolic Disorder

Drugs & Therapeutics for Purine-Pyrimidine Metabolic Disorder

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

Search CenterWatch for Purine-Pyrimidine Metabolic Disorder

Drug clinical trials:

Search ClinicalTrials for Purine-Pyrimidine Metabolic Disorder

Search NIH Clinical Center for Purine-Pyrimidine Metabolic Disorder

Search CenterWatch for Purine-Pyrimidine Metabolic Disorder

Genetic Tests for Purine-Pyrimidine Metabolic Disorder

Anatomical Context for Purine-Pyrimidine Metabolic Disorder

Animal Models for Purine-Pyrimidine Metabolic Disorder or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Purine-Pyrimidine Metabolic Disorder

Sources:
51PubMed
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Articles related to Purine-Pyrimidine Metabolic Disorder:

idTitleAuthorsYear
1
Atmospheric pressure ionization mass spectrometry of purine and pyrimidine markers of inherited metabolic disorders. (12489084)
2002

Genetic Variations for Purine-Pyrimidine Metabolic Disorder

Expression for genes affiliated with Purine-Pyrimidine Metabolic Disorder

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Purine-Pyrimidine Metabolic Disorder

Search GEO for disease gene expression data for Purine-Pyrimidine Metabolic Disorder.

Pathways for genes affiliated with Purine-Pyrimidine Metabolic Disorder

Sources:
54Reactome, 30KEGG, 12EMD Millipore
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Pathways related to Purine-Pyrimidine Metabolic Disorder according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3DPYD, APRT
2
Hide members
8.5ADSL, DPYD, APRT

Compounds for genes affiliated with Purine-Pyrimidine Metabolic Disorder

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Purine-Pyrimidine Metabolic Disorder according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1orotic acid45 11 2411.6APRT, DPYD
2molybdenum45 2410.4ADSL, DPYD
35-methylthioadenosine459.3APRT, ADSL
4inosine monophosphate459.2APRT, ADSL
5aicar45 11 2411.2APRT, ADSL
6ornithine45 2410.2DPYD, ADSL
7hypoxanthine45 11 2411.2APRT, ADSL
8uric acid45 2410.1ADSL, APRT
9adenine45 11 2411.0ADSL, APRT
10adenylate459.0ADSL, APRT
11Adenosine monophosphate11 249.9ADSL, APRT
12adenylosuccinate458.8DPYD, ADSL, APRT
13prpp458.8ADSL, DPYD, APRT
14purine nucleoside458.8DPYD, ADSL, APRT
15xanthine45 249.8ADSL, APRT, DPYD
16purine45 249.8APRT, ADSL, DPYD
17nucleoside458.8DPYD, APRT, ADSL
18creatinine458.7APRT, ADSL
19thymidine45 249.7APRT, DPYD, ADSL

GO Terms for genes affiliated with Purine-Pyrimidine Metabolic Disorder

Sources:
16Gene Ontology
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Cellular components related to Purine-Pyrimidine Metabolic Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5ADSL, DPYD, APRT

Biological processes related to Purine-Pyrimidine Metabolic Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1purine nucleobase metabolic processGO:0061448.7ADSL, APRT
2small molecule metabolic processGO:0442818.5ADSL, DPYD, APRT
3nucleobase-containing small molecule metabolic processGO:0550868.4ADSL, DPYD, APRT

Products for genes affiliated with Purine-Pyrimidine Metabolic Disorder

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Purine-Pyrimidine Metabolic Disorder

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