MCID: PRN024
MIFTS: 25

Purine-Pyrimidine Metabolic Disorder

Categories: Metabolic diseases, Rare 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
Disorder of Purine or Pyrimidine Metabolism 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:653
ICD9CM 34 277.2
SNOMED-CT 67 190917005
ICD10 32 E79 E79.8 E79.9
MESH via Orphanet 45 D011686
ICD10 via Orphanet 33 E79.0 E79.1 E79.8 more
UMLS via Orphanet 71 C0034139
Orphanet 58 ORPHA79224
UMLS 70 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 Metabolism of nucleotides.

Related Diseases for Purine-Pyrimidine Metabolic Disorder

Diseases related to Purine-Pyrimidine Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 dihydropyrimidine dehydrogenase deficiency 31.9 SUOX DPYD-IT1 DPYD ADSL
2 xanthinuria 31.4 XDH SUOX SLC2A9 SLC22A12 PRODH MOCOS
3 pyrimidine metabolic disorder 10.4 DPYD ADSL
4 disorder of purine metabolism 10.4 HPRT1 APRT
5 hyperuricemia, hprt-related 10.4 HPRT1 APRT
6 histidine metabolism disease 10.3 PRODH ADSL
7 urolithiasis 10.3 XDH HPRT1 APRT
8 xanthinuria, type ii 10.3 XDH MOCOS AOX1
9 alkaptonuria 10.2 PRODH MOCOS ADSL
10 cystinuria 10.2 XDH PRODH APRT
11 alzheimer disease 17 10.2 XDH SLC22A12
12 hypouricemia, renal, 1 10.2 SLC2A9 SLC22A12 HPRT1
13 molybdenum cofactor deficiency, complementation group c 10.2 SUOX AOX1
14 charcot-marie-tooth disease type 5 10.2 PRPS1L1 PRPS1
15 tubulointerstitial kidney disease, autosomal dominant, 1 10.2 SLC2A9 SLC22A12 HPRT1
16 deafness, x-linked 3 10.2 PRPS1L1 PRPS1
17 adenine phosphoribosyltransferase deficiency 10.2 XDH HPRT1 APRT ADSL
18 dihydropyrimidinase deficiency 10.2 DPYD ADSL
19 xanthinuria, type i 10.2 XDH SUOX AOX1
20 x-linked recessive disease 10.2 PRODH HPRT1 ERCC6
21 purine nucleoside phosphorylase deficiency 10.2 PNP HPRT1 APRT ADSL
22 deafness, x-linked 6 10.2 PRPS1L1 PRPS1
23 hyperprolinemia, type i 10.2 SUOX PRODH ADSL
24 hyperlysinemia, type i 10.2 SUOX PRODH
25 deafness, x-linked 1 10.2 PRPS1L1 PRPS1
26 x-linked monogenic disease 10.2 PRODH HPRT1 ERCC6
27 deafness, x-linked 4 10.1 PRPS1L1 PRPS1
28 charcot-marie-tooth disease, x-linked recessive, 5 10.1 PRPS1L1 PRPS1 ADSL
29 maple syrup urine disease 10.1 SUOX PRODH ADSL
30 charcot-marie-tooth disease type x 10.1 PRPS1L1 PRPS1
31 molybdenum cofactor deficiency, complementation group a 10.1 SUOX PNP APRT ADSL
32 cerebral creatine deficiency syndrome 2 10.1 SUOX ADSL
33 nephrolithiasis 10.1 XDH SLC2A9 SLC22A12 HPRT1 APRT
34 hereditary xanthinuria 10.0 XDH SUOX MOCOS APRT AOX1
35 nephrolithiasis, uric acid 10.0 XDH SLC2A9 SLC22A12 PRPS1 HPRT1
36 echolalia 10.0 PRODH DPYD-IT1
37 phosphoribosylpyrophosphate synthetase superactivity 10.0 PRPS1L1 PRPS1 HPRT1 APRT ADSL
38 arts syndrome 10.0 PRPS1L1 PRPS1 HPRT1 APRT ADSL
39 molybdenum cofactor deficiency 9.9 XDH SUOX PNP DPYD AOX1 ADSL
40 movement disease 9.9 PRODH HPRT1 ERCC6
41 hyperuricemia 9.7 XDH SLC2A9 SLC22A12 SLC17A1 PRPS1 HPRT1
42 gout 9.6 XDH SLC2A9 SLC22A12 SLC17A1 PRPS1 HPRT1
43 lesch-nyhan syndrome 8.6 XDH SLC2A9 SLC22A12 SLC17A1 PRTFDC1 PRPS1L1

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
13.87 XDH SUOX PRPS1L1 PRPS1 PRODH PNP
2
Show member pathways
12.49 XDH PRPS1L1 PRPS1 PNP HPRT1 GDA
3
Show member pathways
11.74 PNP HPRT1 APRT
4 11.6 PNP HPRT1 APRT ADSL
5 10.79 XDH PRPS1 HPRT1 GDA AOX1
6 10.78 PRPS1 HPRT1 ADSL
7 10.51 SLC2A9 SLC22A12 SLC17A1
8 10.34 XDH AOX1
9 9.95 XDH SLC22A12 PNP MOCOS HPRT1 AOX1

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 ribose phosphate diphosphokinase complex GO:0002189 8.62 PRPS1L1 PRPS1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 nucleotide biosynthetic process GO:0009165 9.65 PRPS1L1 PRPS1 PNP
2 purine-containing compound salvage GO:0043101 9.63 PNP HPRT1 APRT
3 purine nucleotide catabolic process GO:0006195 9.61 XDH PNP GDA
4 grooming behavior GO:0007625 9.58 HPRT1 APRT
5 urate metabolic process GO:0046415 9.58 SLC2A9 SLC22A12 SLC17A1
6 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.57 PRPS1L1 PRPS1
7 cellular biosynthetic process GO:0044249 9.56 PRPS1L1 PRPS1
8 adenine metabolic process GO:0046083 9.55 HPRT1 APRT
9 urate biosynthetic process GO:0034418 9.54 PRPS1 PNP
10 ribonucleoside monophosphate biosynthetic process GO:0009156 9.54 PRPS1L1 PRPS1 ADSL
11 xanthine catabolic process GO:0009115 9.52 XDH AOX1
12 guanine salvage GO:0006178 9.51 PRTFDC1 HPRT1
13 urate transport GO:0015747 9.5 SLC2A9 SLC22A12 SLC17A1
14 adenine salvage GO:0006168 9.49 HPRT1 APRT
15 purine nucleotide biosynthetic process GO:0006164 9.46 PRPS1L1 PRPS1 HPRT1 ADSL
16 purine ribonucleoside salvage GO:0006166 9.43 PRTFDC1 HPRT1 APRT
17 GMP catabolic process GO:0046038 9.13 XDH PRTFDC1 HPRT1
18 nucleoside metabolic process GO:0009116 9.1 PRTFDC1 PRPS1L1 PRPS1 PNP HPRT1 APRT

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 XDH SUOX PRODH DPYD AOX1
2 protein homodimerization activity GO:0042803 9.91 XDH PRTFDC1 PRPS1L1 PRPS1 DPYD AOX1
3 magnesium ion binding GO:0000287 9.8 PRTFDC1 PRPS1L1 PRPS1 HPRT1
4 iron-sulfur cluster binding GO:0051536 9.65 XDH DPYD AOX1
5 flavin adenine dinucleotide binding GO:0050660 9.63 XDH DPYD AOX1
6 2 iron, 2 sulfur cluster binding GO:0051537 9.52 XDH AOX1
7 FAD binding GO:0071949 9.43 XDH PRODH AOX1
8 molybdenum ion binding GO:0030151 9.4 SUOX MOCOS
9 ribose phosphate diphosphokinase activity GO:0004749 9.37 PRPS1L1 PRPS1
10 urate transmembrane transporter activity GO:0015143 9.32 SLC2A9 SLC22A12
11 xanthine dehydrogenase activity GO:0004854 9.16 XDH AOX1
12 hypoxanthine phosphoribosyltransferase activity GO:0004422 8.96 PRTFDC1 HPRT1
13 molybdopterin cofactor binding GO:0043546 8.8 XDH SUOX AOX1

Sources for Purine-Pyrimidine Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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