MCID: PRN024
MIFTS: 25

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 15
Inborn Errors of Purine-Pyrimidine Metabolism 12

Classifications:



External Ids:

Disease Ontology 12 DOID:653
ICD10 33 E79.8
ICD9CM 35 277.2
UMLS 73 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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 ADSL AOX1 APRT DPYD DPYS HPRT1
2
Show member pathways
12.46 AOX1 DPYD DPYS HPRT1 XDH
3
Show member pathways
12.12 ADSL APRT DPYD DPYS HPRT1 PNP
4
Show member pathways
11.74 DPYD DPYS PPAT
5
Show member pathways
11.73 APRT HPRT1 PNP PPAT
6
Show member pathways
11.57 ADSL APRT DPYD DPYS HPRT1 PNP
7 11.07 ADSL PPAT
8
Show member pathways
11.04 DPYD DPYS
9 10.89 AOX1 HPRT1 PPAT XDH
10 10.77 ADSL HPRT1
11 10.76 DPYD DPYS
12
Show member pathways
10.71 DPYD DPYS
13 10.31 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 9.32 ADSL AOX1 APRT DPYD DPYS HPRT1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 9.7 DPYS HPRT1 PPAT
2 lactation GO:0007595 9.65 APRT PPAT XDH
3 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.57 ADSL PPAT
4 grooming behavior GO:0007625 9.56 APRT HPRT1
5 purine nucleotide catabolic process GO:0006195 9.55 PNP XDH
6 pyrimidine nucleoside catabolic process GO:0046135 9.54 DPYD DPYS
7 de novo IMP biosynthetic process GO:0006189 9.51 ADSL PPAT
8 purine ribonucleoside salvage GO:0006166 9.49 APRT HPRT1
9 adenine salvage GO:0006168 9.46 APRT HPRT1
10 thymine catabolic process GO:0006210 9.43 DPYD DPYS
11 xanthine catabolic process GO:0009115 9.4 AOX1 XDH
12 adenine metabolic process GO:0046083 9.37 APRT HPRT1
13 purine nucleotide biosynthetic process GO:0006164 9.33 ADSL HPRT1 PPAT
14 uracil catabolic process GO:0006212 9.32 DPYD DPYS
15 pyrimidine nucleobase catabolic process GO:0006208 9.26 DPYD DPYS
16 purine-containing compound salvage GO:0043101 9.13 APRT HPRT1 PNP
17 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 9.91 APRT HPRT1 MOCOS PNP PPAT
2 protein homodimerization activity GO:0042803 9.8 AOX1 DPYD HPRT1 XDH
3 transferase activity, transferring glycosyl groups GO:0016757 9.62 APRT HPRT1 PNP PPAT
4 flavin adenine dinucleotide binding GO:0050660 9.54 AOX1 DPYD XDH
5 4 iron, 4 sulfur cluster binding GO:0051539 9.48 DPYD PPAT
6 2 iron, 2 sulfur cluster binding GO:0051537 9.46 AOX1 XDH
7 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.43 AOX1 XDH
8 molybdopterin cofactor binding GO:0043546 9.4 AOX1 XDH
9 catalytic activity GO:0003824 9.35 ADSL DPYD PNP PPAT XDH
10 xanthine dehydrogenase activity GO:0004854 9.26 AOX1 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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