MCID: PRN024
MIFTS: 31

Purine-Pyrimidine Metabolic Disorder malady

Categories: Metabolic diseases

Aliases & Classifications for Purine-Pyrimidine Metabolic Disorder

Aliases & Descriptions 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 33 E79.8 E79
ICD9CM 35 277.2
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 Porphyrin and chlorophyll metabolism. The drugs Colchicine and Indomethacin have been mentioned in the context of this disorder.

Wikipedia : 71 Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders... more...

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

Drugs for Purine-Pyrimidine Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 96)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
2
Indomethacin Approved, Investigational Phase 4,Phase 3,Phase 2 53-86-1 3715
3
Diclofenac Approved, Vet_approved Phase 4,Phase 2 15307-86-5 3033
4
Allopurinol Approved Phase 4,Phase 3,Phase 2,Phase 1 315-30-0 2094
5
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2 22204-53-1 1302 156391
6
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
7
Febuxostat Approved Phase 4,Phase 3,Phase 1,Phase 2 144060-53-7 134018
8
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
9
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
10
Uric Acid Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1 69-93-2 1175
11
Proton pump inhibitors Phase 4,Phase 3,Phase 2
12 Analgesics Phase 4,Phase 3,Phase 2
13 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
14 Cyclooxygenase 2 Inhibitors Phase 4,Phase 3
15 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2
16 Tocolytic Agents Phase 4,Phase 3,Phase 2
17 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
18 Diacetylrhein Phase 4
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
20 Antacids Phase 4,Phase 3,Phase 2
21 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
24 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
25 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2
26 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
29
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
30
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
31
Triamcinolone Approved, Vet_approved Phase 3,Phase 2 124-94-7 31307
32
Lansoprazole Approved, Investigational Phase 3,Phase 2 103577-45-3 3883
33
Lesinurad Approved Phase 3 878672-00-5 53465279
34
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
35
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
36 Immunoglobulins Phase 3,Phase 2
37 Psychotropic Drugs Phase 3,Phase 2,Phase 1
38 Antibodies Phase 3,Phase 2
39
Benzbromarone Phase 3,Phase 1,Phase 2 3562-84-3 2333
40 triamcinolone acetonide Phase 3,Phase 2
41 ecopipam Phase 3,Phase 1
42
Dexlansoprazole Phase 3,Phase 2 138530-94-6, 103577-45-3 9578005
43 glucocorticoids Phase 3,Phase 2
44 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
45 Hormone Antagonists Phase 3,Phase 2
46 Tranquilizing Agents Phase 3,Phase 1
47 Triamcinolone diacetate Phase 3,Phase 2
48 Triamcinolone hexacetonide Phase 3,Phase 2
49 Hormones Phase 3,Phase 2
50 Dopamine Agents Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 96)
id Name Status NCT ID Phase
1 Initiation of Allopurinol at First Medical Contact for Acute Attacks of Gout Completed NCT01310673 Phase 4
2 Immune Molecular and Inflammatory Cytokines Dysfunction Analysis in Gout Patients With Different Urate Levels Completed NCT02060552 Phase 4
3 Colchicine Or Naproxen Treatment for ACute gouT Completed NCT01994226 Phase 4
4 Postmarketing Study to Determine Performance of the SIGMA HP® PARTIAL KNEE SYSTEM Completed NCT01529099 Phase 4
5 Efficacy and Safety of Lumiracoxib 400 mg Once Daily in Acute Flares of Gout Completed NCT00170781 Phase 4
6 Does Allopurinol Prolong a Treated, Acute Gout Flare? Completed NCT01988402 Phase 4
7 A Study Evaluating the Effect of Etoricoxib and Indomethacin in the Treatment of Acute Gout (0663-081)(COMPLETED) Completed NCT00142558 Phase 4
8 Gout: Allopurinol vs. Febuxostat Recruiting NCT02579096 Phase 4
9 Intensive Urate Lowering Therapy of Febuxostat Compared to Allopurinol on Cardiovascular Risk in Patients With Gout Active, not recruiting NCT02500641 Phase 4
10 Review of Safety Using Rilonacept in Preventing Gout Exacerbations (RE-SURGE) Completed NCT00856206 Phase 3
11 Study Utilizing Rilonacept in Gout Exacerbations Completed NCT00855920 Phase 3
12 PREventative Study Against URate-lowering Drug-induced Gout Exacerbations 1 Completed NCT00829829 Phase 3
13 PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2) Completed NCT00958438 Phase 3
14 Long-Term Safety and Tolerability of Canakinumab Prefilled Syringes in Frequently Flaring Acute Gouty Arthritis Patients Completed NCT01431638 Phase 3
15 Safety and Efficacy of Canakinumab Prefilled Syringes in Frequently Flaring Acute Gouty Arthritis Patients Completed NCT01356602 Phase 3
16 Safety and Efficacy Study of PEG-uricase in the Treatment of Hyperuricemic Patients With Symptomatic Gout Completed NCT00325195 Phase 3
17 Open-Label Extension Study for Patients Who Completed a Phase 3 Double-blind Study of PEG-uricase for Symptomatic Gout Completed NCT01356498 Phase 3
18 Canakinumab in the Treatment of Acute Gout Flares and Prevention of New Flares in Patients Unable to Use Non-steroidal Anti-inflammatory Drugs (NSAIDs) and/or Colchicines Including a 12 Week Extension and a 1 Year Open-label Extension Study. Completed NCT01080131 Phase 3
19 β-RELIEVED - REsponse in Acute fLare and In prEVEntion of episoDes of Re-flare in Gout - Extension 3 (E3) Completed NCT01470989 Phase 3
20 Celebrex In Acute Gouty Arthritis Study Completed NCT00549549 Phase 3
21 Efficacy and Safety of Extended Release and Immediate Release Febuxostat in Participants With Gout Completed NCT02139046 Phase 3
22 Safety and Efficacy of Oral Febuxostat in Subjects With Gout Completed NCT02082769 Phase 3
23 Lesinurad and Febuxostat Combination Extension Study in Gout Completed NCT01808144 Phase 3
24 A Study to Evaluate Safety and Efficacy of Oral Febuxostat in Patients With Gout Completed NCT01736514 Phase 3
25 Open-Label Lesinurad Monotherapy Extension Study in Gout Completed NCT01650246 Phase 3
26 Combination Treatment Study in Subjects With Tophaceous Gout With Lesinurad and Febuxostat Completed NCT01510769 Phase 3
27 Lesinurad Monotherapy in Gout Subjects Intolerant to Xanthine Oxidase Inhibitors Completed NCT01508702 Phase 3
28 Canakinumab in the Treatment of Acute Gout Flares and Prevention of New Flares in Patients Unable to Use Non-steroidal Anti-inflammatory Drugs (NSAIDs) and/or Colchicine Including a 12 Weeks Extension and an Open-label 48 Weeks Extension Study Completed NCT01029652 Phase 3
29 Phase III Trial of Febuxostat in Korea Gout Patients Completed NCT00821392 Phase 3
30 Re-exposure Study of Pegloticase Intravenous (i.v.) in Symptomatic Gout Patients Completed NCT00675103 Phase 3
31 MPC-004 for the Treatment of an Acute Gout Flare Completed NCT00506883 Phase 3
32 Efficacy and Safety of Oral Febuxostat in Participants With Gout Completed NCT00430248 Phase 3
33 Phase 3, Febuxostat, Allopurinol and Placebo-Controlled Study in Gout Subjects. Completed NCT00174915 Phase 3
34 Febuxostat Versus Allopurinol Control Trial in Subjects With Gout Completed NCT00102440 Phase 3
35 Anakinra vs. Steroids for the Treatment of Gout Attacks in Patients With Renal Disease (ASGARD): A Feasibility Study Recruiting NCT02578394 Phase 2, Phase 3
36 Benzbromarone-Controlled, Double-Blind, Comparative Study of FYU-981 in Hyperuricemia With or Without Gout Recruiting NCT03100318 Phase 3
37 Study of FYU-981 in Hyperuricemia With or Without Gout Recruiting NCT03006445 Phase 3
38 Efficacy and Safety of HuZhen Capsule for Treatment of Patients With Acute Gout Active, not recruiting NCT02674776 Phase 3
39 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3
40 Study of the Safety and Efficacy of Long-Term Rilonacept Treatment for the Prevention of Gout Flares Terminated NCT01459796 Phase 3
41 Safety & Efficacy of Canakinumab (ACZ885) in Patients With Frequent Flares for Whom Nonsterodial Anti-Inflammatory Drug (NSAIDs) and/ or Colchicine Are Contraindicated, Not Tolerated or Ineffective Terminated NCT01362608 Phase 3
42 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3
43 Canakinumab in the Treatment of Gouty Arthritis Flare(s) and Prevention of New Flares in Patients With Chronic Kidney Disease Withdrawn NCT01593527 Phase 3
44 Study of Levotofisopam 50 mg Three Times a Day (TID) Administered for 7 Days on Hyperuricemia and Gout Unknown status NCT01519687 Phase 2
45 Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Completed NCT00004314 Phase 2
46 A Randomized, Double-Blind, Dose-Response Study of the Safety and Uric Acid Effects of Oral Ulodesine Added to Allopurinol in Subjects With Gout and Concomitant Moderate Renal Insufficiency Completed NCT01407874 Phase 2
47 A Study of Persons With Gout Who Do Not Respond to or Are Allergic to Conventional Therapy Completed NCT00080210 Phase 2
48 Efficacy and Safety of a Single Dose of Canakinumab (ACZ885) in Hospitalized Patients With Acute Gout Completed NCT00663169 Phase 2
49 Study of URC102 to Assess the Safety and Efficacy in Gout Patients Completed NCT02557126 Phase 2
50 Phase 2a RDEA3170 and Allopurinol Combination Study in Gout Subjects Completed NCT02498652 Phase 2

Search NIH Clinical Center for Purine-Pyrimidine Metabolic Disorder

Genetic Tests for Purine-Pyrimidine Metabolic Disorder

Anatomical Context for Purine-Pyrimidine Metabolic Disorder

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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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ADSL AOX1 APRT DPYD HPRT1 MOCOS
2
Show member pathways
12.07 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 10.98 ADSL PPAT
7 10.89 AOX1 HPRT1 PPAT XDH
8 10.68 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:

id 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 14)
id Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.58 APRT PPAT XDH
2 cellular response to insulin stimulus GO:0032869 9.54 APRT PPAT
3 protein homotetramerization GO:0051289 9.52 HPRT1 PPAT
4 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.51 ADSL PPAT
5 purine nucleotide catabolic process GO:0006195 9.49 PNP XDH
6 grooming behavior GO:0007625 9.48 APRT HPRT1
7 de novo IMP biosynthetic process GO:0006189 9.46 ADSL PPAT
8 purine ribonucleoside salvage GO:0006166 9.43 APRT HPRT1
9 xanthine catabolic process GO:0009115 9.37 AOX1 XDH
10 purine nucleotide biosynthetic process GO:0006164 9.33 ADSL HPRT1 PPAT
11 adenine metabolic process GO:0046083 9.32 APRT HPRT1
12 adenine salvage GO:0006168 9.26 APRT HPRT1
13 purine-containing compound salvage GO:0043101 9.13 APRT HPRT1 PNP
14 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)
id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.89 APRT HPRT1 MOCOS PNP PPAT
2 transferase activity, transferring glycosyl groups GO:0016757 9.62 APRT HPRT1 PNP PPAT
3 flavin adenine dinucleotide binding GO:0050660 9.54 AOX1 DPYD XDH
4 electron carrier activity GO:0009055 9.51 AOX1 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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