MCID: PRN024
MIFTS: 24

Purine-Pyrimidine Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Purine-Pyrimidine Metabolic Disorder

MalaCards integrated aliases for Purine-Pyrimidine Metabolic Disorder:

Name: Purine-Pyrimidine Metabolic Disorder 12 14
Inborn Errors of Purine-Pyrimidine Metabolism 12

Classifications:



External Ids:

Disease Ontology 12 DOID:653
ICD10 32 E79.8 E79
ICD9CM 34 277.2
UMLS 69 C0029595

Summaries for Purine-Pyrimidine Metabolic Disorder

Disease Ontology : 12 An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.

MalaCards based summary : Purine-Pyrimidine Metabolic Disorder, also known as inborn errors of purine-pyrimidine metabolism, is related to dihydropyrimidine dehydrogenase deficiency and xanthinuria. An important gene associated with Purine-Pyrimidine Metabolic Disorder is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Drug metabolism - cytochrome P450.

Related Diseases for Purine-Pyrimidine Metabolic Disorder

Graphical network of the top 20 diseases related to Purine-Pyrimidine Metabolic Disorder:



Diseases related to Purine-Pyrimidine Metabolic Disorder

Symptoms & Phenotypes for Purine-Pyrimidine Metabolic Disorder

Drugs & Therapeutics for Purine-Pyrimidine Metabolic Disorder

Search Clinical Trials , NIH Clinical Center for Purine-Pyrimidine Metabolic Disorder

Genetic Tests for Purine-Pyrimidine Metabolic Disorder

Anatomical Context for Purine-Pyrimidine Metabolic Disorder

Publications for Purine-Pyrimidine Metabolic Disorder

Variations for Purine-Pyrimidine Metabolic Disorder

Expression for Purine-Pyrimidine Metabolic Disorder

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

Pathways for Purine-Pyrimidine Metabolic Disorder

Pathways related to Purine-Pyrimidine Metabolic Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ADSL AOX1 APRT DPYD HPRT1 MOCOS
2
Show member pathways
12.39 AOX1 DPYD HPRT1 XDH
3
Show member pathways
12.07 ADSL APRT DPYD HPRT1 PNP PPAT
4
Show member pathways
11.67 APRT HPRT1 PNP PPAT
5
Show member pathways
11.51 ADSL APRT DPYD HPRT1 PNP PPAT
6 11 ADSL PPAT
7 10.89 AOX1 HPRT1 PPAT XDH
8 10.71 ADSL HPRT1
9 10.27 AOX1 XDH

GO Terms for Purine-Pyrimidine Metabolic Disorder

Cellular components related to Purine-Pyrimidine Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.28 ADSL AOX1 APRT DPYD HPRT1 MOCOS

Biological processes related to Purine-Pyrimidine Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.58 APRT PPAT XDH
2 electron transport chain GO:0022900 9.55 AOX1 XDH
3 cellular response to insulin stimulus GO:0032869 9.54 APRT PPAT
4 protein homotetramerization GO:0051289 9.52 HPRT1 PPAT
5 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.51 ADSL PPAT
6 purine nucleotide catabolic process GO:0006195 9.49 PNP XDH
7 grooming behavior GO:0007625 9.48 APRT HPRT1
8 de novo IMP biosynthetic process GO:0006189 9.46 ADSL PPAT
9 purine ribonucleoside salvage GO:0006166 9.43 APRT HPRT1
10 adenine metabolic process GO:0046083 9.37 APRT HPRT1
11 purine nucleotide biosynthetic process GO:0006164 9.33 ADSL HPRT1 PPAT
12 adenine salvage GO:0006168 9.32 APRT HPRT1
13 xanthine catabolic process GO:0009115 9.26 AOX1 XDH
14 purine-containing compound salvage GO:0043101 9.13 APRT HPRT1 PNP
15 nucleoside metabolic process GO:0009116 8.92 APRT HPRT1 PNP PPAT

Molecular functions related to Purine-Pyrimidine Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.89 APRT HPRT1 MOCOS PNP PPAT
2 protein homodimerization activity GO:0042803 9.78 AOX1 DPYD HPRT1 XDH
3 transferase activity, transferring glycosyl groups GO:0016757 9.56 APRT HPRT1 PNP PPAT
4 electron transfer activity GO:0009055 9.51 AOX1 XDH
5 flavin adenine dinucleotide binding GO:0050660 9.5 AOX1 DPYD XDH
6 4 iron, 4 sulfur cluster binding GO:0051539 9.46 DPYD PPAT
7 2 iron, 2 sulfur cluster binding GO:0051537 9.43 AOX1 XDH
8 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.4 AOX1 XDH
9 molybdopterin cofactor binding GO:0043546 9.37 AOX1 XDH
10 catalytic activity GO:0003824 9.35 ADSL DPYD PNP PPAT XDH
11 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 9.16 AOX1 XDH
12 iron-sulfur cluster binding GO:0051536 8.92 AOX1 DPYD PPAT XDH

Sources for Purine-Pyrimidine Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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