MCID: PYR035
MIFTS: 25

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 70
Pyrimidine Metabolism Disorder 54

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050832
UMLS via Orphanet 71 C0268127
Orphanet 58 ORPHA79193
UMLS 70 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.

Related Diseases for Pyrimidine Metabolic Disorder

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 purine-pyrimidine metabolic disorder 32.3 DPYD ADSL
2 dihydropyrimidine dehydrogenase deficiency 31.8 DPYS DPYD ADSL
3 dihydropyrimidinase deficiency 30.7 UPB1 STMP1 DPYS DPYD DPH5 ADSL
4 orotic aciduria 29.0 UPRT UMPS TMPPE SLC7A7 OTC NAGS
5 xanthinuria 11.1
6 charcot-marie-tooth disease, x-linked recessive, 5 10.2 UMPS ADSL
7 histidine metabolism disease 10.2 UPB1 ADSL
8 postpartum psychosis 10.1 OTC ASS1
9 beta-ureidopropionase deficiency 10.1 UPB1 DPYS DPYD
10 arts syndrome 10.1 UMPS ADSL
11 reye syndrome 10.1 OTC ASS1
12 histidinemia 10.1 UPB1 ADSL
13 postaxial acrofacial dysostosis 10.1 UMPS DHODH
14 adenine phosphoribosyltransferase deficiency 10.1 UPB1 UMPS ADSL
15 multiple carboxylase deficiency 10.0 OTC ADSL
16 megaloblastic anemia 10.0
17 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.0 OTC NAGS ASS1
18 carbonic anhydrase va deficiency, hyperammonemia due to 10.0 OTC NAGS ASS1
19 adenosine deaminase deficiency 10.0 OTC ADSL
20 propionic acidemia 10.0 OTC NAGS ASS1
21 fumarase deficiency 9.9 ASL ADSL
22 phenylketonuria 9.9 OTC ASS1 ADSL
23 tyrosinemia, type i 9.9 OTC NAGS ASL
24 molybdenum cofactor deficiency 9.9 DPYD ADSL
25 citrullinemia, type ii, adult-onset 9.8 NAGS ASS1 ASL
26 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.7 OTC NAGS ASS1 ASL
27 ornithine transcarbamylase deficiency, hyperammonemia due to 9.6 OTC NAGS DPYD ASS1 ASL
28 citrullinemia, classic 9.6 SLC7A7 OTC NAGS ASS1 ASL
29 lysinuric protein intolerance 9.6 SLC7A7 OTC NAGS ASS1 ASL
30 amino acid metabolic disorder 9.6 SLC7A7 OTC NAGS ASS1 ASL
31 argininemia 9.6 SLC7A7 OTC NAGS ASS1 ASL
32 maple syrup urine disease 9.5 OTC NAGS ASS1 ASL ADSL
33 argininosuccinic aciduria 9.4 SLC7A7 OTC NAGS ASS1 ASL ADSL
34 urea cycle disorder 9.4 SLC7A7 OTC NAGS ASS1 ASL ADSL

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

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 UPRT UPB1 UMPS OTC NAGS DPYS
2
Show member pathways
12.56 UPB1 UMPS DPYS DPYD
3
Show member pathways
12.38 UPRT UPB1 UMPS DPYS DPYD DHODH
4
Show member pathways
12.1 OTC NAGS ASS1 ASL
5
Show member pathways
11.91 UMPS DHODH ADSL
6
Show member pathways
11.43 UPB1 UMPS DPYS DPYD
7 11.18 ASS1 ASL ADSL
8
Show member pathways
11.1 UPB1 DPYS DPYD
9 10.87 UPB1 DPYS DPYD
10
Show member pathways
10.75 UPB1 DPYS DPYD
11
Show member pathways
10.69 OTC NAGS ASS1 ASL
12
Show member pathways
10.61 ASS1 ASL
13
Show member pathways
10.3 OTC NAGS 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 cytosol GO:0005829 9.32 UPRT UPB1 UMPS DPYS DPYD DPH5

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.76 UPRT UMPS DHODH
2 cellular amino acid biosynthetic process GO:0008652 9.7 OTC ASS1 ASL
3 lactation GO:0007595 9.69 UPRT UMPS DHODH
4 response to starvation GO:0042594 9.61 DHODH ADSL
5 response to zinc ion GO:0010043 9.6 OTC ASS1
6 nucleoside metabolic process GO:0009116 9.59 UPRT UMPS
7 midgut development GO:0007494 9.58 OTC ASS1
8 pyrimidine nucleotide biosynthetic process GO:0006221 9.57 UMPS DHODH
9 pyrimidine nucleobase catabolic process GO:0006208 9.56 DPYS DPYD
10 'de novo' pyrimidine nucleobase biosynthetic process GO:0006207 9.55 UMPS DHODH
11 UMP biosynthetic process GO:0006222 9.54 UPRT UMPS
12 pyrimidine nucleoside catabolic process GO:0046135 9.5 UPB1 DPYS DPYD
13 pyrimidine nucleoside biosynthetic process GO:0046134 9.49 UMPS DHODH
14 'de novo' UMP biosynthetic process GO:0044205 9.48 UMPS DHODH
15 arginine biosynthetic process via ornithine GO:0042450 9.46 OTC ASL
16 thymine catabolic process GO:0006210 9.43 DPYS DPYD
17 dUMP catabolic process GO:0046079 9.43 UPB1 DPYS DPYD
18 beta-alanine biosynthetic process GO:0019483 9.4 UPB1 DPYD
19 uracil catabolic process GO:0006212 9.37 DPYS DPYD
20 UMP catabolic process GO:0046050 9.33 UPB1 DPYS DPYD
21 urea cycle GO:0000050 9.26 OTC NAGS ASS1 ASL
22 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 identical protein binding GO:0042802 9.85 UMPS OTC DPYS ASS1 ASL ADSL
2 catalytic activity GO:0003824 9.55 UMPS DPYD DHODH ASL ADSL
3 lyase activity GO:0016829 9.43 UMPS ASL ADSL
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 DPYD DHODH
5 uracil binding GO:0002058 8.96 DPYS DPYD
6 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
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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