MCID: PYR035
MIFTS: 26

Pyrimidine Metabolic Disorder

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Pyrimidine Metabolic Disorder

MalaCards integrated aliases for Pyrimidine Metabolic Disorder:

Name: Pyrimidine Metabolic Disorder 12 15
Disorder of Pyrimidine Metabolism 58 71
Pyrimidine Metabolism Disorder 54

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050832
UMLS via Orphanet 72 C0268127
Orphanet 58 ORPHA79193
UMLS 71 C0268127

Summaries for Pyrimidine Metabolic Disorder

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

MalaCards based summary : Pyrimidine Metabolic Disorder, also known as disorder of pyrimidine metabolism, is related to purine-pyrimidine metabolic disorder and dihydropyrimidine dehydrogenase deficiency. An important gene associated with Pyrimidine Metabolic Disorder is DPYD (Dihydropyrimidine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Drug metabolism - cytochrome P450. Affiliated tissues include testes.

Related Diseases for Pyrimidine Metabolic Disorder

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 purine-pyrimidine metabolic disorder 34.3 PRODH DPYD
2 dihydropyrimidine dehydrogenase deficiency 32.3 TYMP DPYS DPYD
3 dihydropyrimidinase deficiency 31.8 UPB1 STMP1 DPYS DPYD DPH5
4 orotic aciduria 28.8 UPRT UMPS TMPPE SLC7A7 PRODH OTC
5 xanthinuria 11.6
6 lesch-nyhan syndrome 10.3
7 postpartum psychosis 10.2 OTC ASS1
8 histidine metabolism disease 10.2 UPB1 PRODH
9 beta-ureidopropionase deficiency 10.1 UPB1 DPYS DPYD
10 histidinemia 10.1 UPB1 PRODH
11 reye syndrome 10.0 PRODH OTC ASS1
12 cystinuria 10.0 SLC7A7 PRODH OTC
13 methylmalonic acidemia 10.0 PRODH OTC NAGS
14 carbonic anhydrase va deficiency, hyperammonemia due to 10.0 OTC NAGS ASS1
15 acyl-coa dehydrogenase deficiency 9.9 OTC ASS1
16 phenylketonuria 9.9 PRODH OTC ASS1
17 megaloblastic anemia 9.9
18 adenylosuccinase deficiency 9.9
19 adenine phosphoribosyltransferase deficiency 9.9
20 hypoglycemia 9.9
21 hereditary xanthinuria 9.9
22 tyrosinemia, type i 9.9 OTC NAGS ASL
23 postaxial acrofacial dysostosis 9.8 UMPS DHODH
24 maple syrup urine disease 9.7 PRODH OTC NAGS ASL
25 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 9.6 OTC NAGS ASS1 ASL
26 citrullinemia, type ii, adult-onset 9.6 OTC NAGS ASS1 ASL
27 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.6 OTC NAGS ASS1 ASL
28 propionic acidemia 9.6 OTC NAGS ASS1 ASL
29 ornithine transcarbamylase deficiency, hyperammonemia due to 9.5 OTC NAGS DPYD ASS1 ASL
30 argininosuccinic aciduria 9.4 SLC7A7 OTC NAGS ASS1 ASL
31 citrullinemia, classic 9.4 SLC7A7 OTC NAGS ASS1 ASL
32 argininemia 9.3 SLC7A7 PRODH OTC NAGS ASS1 ASL
33 urea cycle disorder 9.3 SLC7A7 PRODH OTC NAGS ASS1 ASL
34 lysinuric protein intolerance 9.3 SLC7A7 PRODH OTC NAGS ASS1 ASL
35 amino acid metabolic disorder 9.2 SLC7A7 PRODH OTC NAGS ASS1 ASL

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



Diseases related to Pyrimidine Metabolic Disorder

Symptoms & Phenotypes for Pyrimidine Metabolic Disorder

Drugs & Therapeutics for Pyrimidine Metabolic Disorder

Search Clinical Trials , NIH Clinical Center for Pyrimidine Metabolic Disorder

Genetic Tests for Pyrimidine Metabolic Disorder

Anatomical Context for Pyrimidine Metabolic Disorder

MalaCards organs/tissues related to Pyrimidine Metabolic Disorder:

40
Testes

Publications for Pyrimidine Metabolic Disorder

Articles related to Pyrimidine Metabolic Disorder:

# Title Authors PMID Year
1
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? 61
28275972 2017
2
Single time point diagnostic breath tests: a review. 61
21386204 2010
3
Dihydropyrimidine dehydrogenase deficiency presenting at birth. 61
16151913 2005
4
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. 61
15303009 2004
5
Screening for pyrimidine metabolism disorders using dried filter-paper urine samples: method development and a pilot study in Nagoya City, Japan. 54
10750737 2000
6
Possible prediction of adverse reactions to fluorouracil by the measurement of urinary dihydrothymine and thymine. 61
9857238 1998
7
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine. 61
6026580 1967

Variations for Pyrimidine Metabolic Disorder

Expression for Pyrimidine Metabolic Disorder

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

Pathways for Pyrimidine Metabolic Disorder

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 UPRT UPB1 UMPS TYMP PRODH OTC
2
Show member pathways
12.6 UPB1 UMPS TYMP DPYS DPYD
3
Show member pathways
12.48 UPRT UPB1 UMPS TYMP DPYS DPYD
4
Show member pathways
12.08 OTC NAGS ASS1 ASL
5
Show member pathways
11.14 UPB1 DPYS DPYD
6 11.07 ASS1 ASL
7
Show member pathways
10.9 UPB1 UMPS TYMP DPYS DPYD
8
Show member pathways
10.87 OTC NAGS ASS1 ASL
9 10.82 UPB1 DPYS DPYD
10
Show member pathways
10.75 UPB1 DPYS DPYD
11
Show member pathways
10.64 OTC NAGS ASS1 ASL
12
Show member pathways
10.61 ASS1 ASL

GO Terms for Pyrimidine Metabolic Disorder

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 STMP1 PRODH OTC NAGS DHODH ASS1
2 cytosol GO:0005829 9.32 UPRT UPB1 UMPS TYMP DPYS DPYD

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.75 UPRT UMPS DHODH
2 lactation GO:0007595 9.7 UPRT UMPS DHODH
3 cellular amino acid biosynthetic process GO:0008652 9.67 OTC ASS1 ASL
4 response to zinc ion GO:0010043 9.59 OTC ASS1
5 nucleoside metabolic process GO:0009116 9.58 UPRT UMPS
6 midgut development GO:0007494 9.57 OTC ASS1
7 pyrimidine nucleotide biosynthetic process GO:0006221 9.56 UMPS DHODH
8 pyrimidine nucleobase catabolic process GO:0006208 9.55 DPYS DPYD
9 'de novo' pyrimidine nucleobase biosynthetic process GO:0006207 9.54 UMPS DHODH
10 UMP biosynthetic process GO:0006222 9.51 UPRT UMPS
11 pyrimidine nucleoside biosynthetic process GO:0046134 9.48 UMPS DHODH
12 'de novo' UMP biosynthetic process GO:0044205 9.46 UMPS DHODH
13 pyrimidine nucleoside catabolic process GO:0046135 9.46 UPB1 TYMP DPYS DPYD
14 arginine biosynthetic process via ornithine GO:0042450 9.43 OTC ASL
15 beta-alanine metabolic process GO:0019482 9.4 UPB1 DPYS
16 thymine catabolic process GO:0006210 9.37 DPYS DPYD
17 beta-alanine biosynthetic process GO:0019483 9.32 UPB1 DPYD
18 uracil catabolic process GO:0006212 9.26 DPYS DPYD
19 urea cycle GO:0000050 9.26 OTC NAGS ASS1 ASL
20 arginine biosynthetic process GO:0006526 8.92 OTC NAGS ASS1 ASL

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.56 UMPS DPYD DHODH ASL
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.16 DPYD DHODH
3 uracil binding GO:0002058 8.96 DPYS DPYD
4 amino acid binding GO:0016597 8.8 OTC DPYS ASS1

Sources for Pyrimidine Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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