MCID: PRN024
MIFTS: 23

Purine-Pyrimidine Metabolic Disorder malady

Metabolic diseases category

Summaries for Purine-Pyrimidine Metabolic Disorder

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8Disease Ontology, 32MalaCards
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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

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8Disease Ontology, 56SNOMED-CT, 27ICD9CM, 34MeSH, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

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


External Ids:

Disease Ontology8 DOID:653
ICD9CM27 277.2
MeSH34 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 deficiency30.4ADSL, DPYD
2colorectal cancer10.0DPYD, APRT
3brain disease10.0ADSL, DPYD
4lesch-nyhan syndrome10.0ADSL, APRT
5epilepsy syndrome10.0ADSL, DPYD
6gout10.0ADSL, APRT
7metabolic syndrome x10.0APRT, DPYD, 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

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Drugs & Therapeutics for Purine-Pyrimidine Metabolic Disorder

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5CenterWatch, 41NIH 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

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Anatomical Context for Purine-Pyrimidine Metabolic Disorder

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Animal Models for Purine-Pyrimidine Metabolic Disorder or affiliated genes

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Publications for Purine-Pyrimidine Metabolic Disorder

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Genetic Variations for Purine-Pyrimidine Metabolic Disorder

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Expression for genes affiliated with Purine-Pyrimidine Metabolic Disorder

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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

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53Reactome, 29KEGG, 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
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9.3DPYD, APRT
2
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8.5ADSL, DPYD, APRT

Compounds for genes affiliated with Purine-Pyrimidine Metabolic Disorder

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Purine-Pyrimidine Metabolic Disorder according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1orotic acid44 11 2411.6DPYD, APRT
2molybdenum44 2410.4ADSL, DPYD
35-methylthioadenosine449.3APRT, ADSL
4inosine monophosphate449.2APRT, ADSL
5aicar44 11 2411.2ADSL, APRT
6ornithine44 2410.2ADSL, DPYD
7hypoxanthine44 11 2411.2ADSL, APRT
8uric acid44 2410.1APRT, ADSL
9adenine44 11 2411.0ADSL, APRT
10adenylate449.0ADSL, APRT
11Adenosine monophosphate11 249.9APRT, ADSL
12adenylosuccinate448.8ADSL, DPYD, APRT
13prpp448.8APRT, DPYD, ADSL
14purine nucleoside448.8ADSL, DPYD, APRT
15xanthine44 249.8APRT, DPYD, ADSL
16purine44 249.8ADSL, DPYD, APRT
17nucleoside448.8APRT, DPYD, ADSL
18creatinine448.7ADSL, APRT
19thymidine44 249.7ADSL, DPYD, APRT

GO Terms for genes affiliated with Purine-Pyrimidine Metabolic Disorder

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Purine-Pyrimidine Metabolic Disorder

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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