MCID: PYR035
MIFTS: 23

Pyrimidine Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Pyrimidine Metabolic Disorder

MalaCards integrated aliases for Pyrimidine Metabolic Disorder:

Name: Pyrimidine Metabolic Disorder 12 15
Disorder of Pyrimidine Metabolism 73
Pyrimidine Metabolism Disorder 55

Classifications:



External Ids:

Disease Ontology 12 DOID:0050832
UMLS 73 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 dihydropyrimidinase 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 liver.

Related Diseases for Pyrimidine Metabolic Disorder

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

# Related Disease Score Top Affiliating Genes
1 purine-pyrimidine metabolic disorder 33.1 DPYD DPYS
2 dihydropyrimidinase deficiency 31.3 DPYD DPYS
3 orotic aciduria 30.8 DPYD UMPS
4 dihydropyrimidine dehydrogenase deficiency 30.6 DPYD DPYS UMPS
5 xanthinuria 11.0
6 ornithine transcarbamylase deficiency, hyperammonemia due to 9.6 DPYD UPB1
7 beta-ureidopropionase deficiency 9.3 DPYD DPYS UPB1

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:

41
Liver

Publications for Pyrimidine Metabolic Disorder

Articles related to Pyrimidine Metabolic Disorder:

# Title Authors Year
1
Children's toxicology from bench to bed--Liver injury (1): Drug-induced metabolic disturbance--toxicity of 5-FU for pyrimidine metabolic disorders and pivalic acid for carnitine metabolism. ( 19571472 )
2009
2
Screening for pyrimidine metabolism disorders using dried filter-paper urine samples: method development and a pilot study in Nagoya City, Japan. ( 10750737 )
2000
3
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. ( 8581129 )
1995

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 AASS DHODH DPYD DPYS UMPS UPB1
2
Show member pathways
12.4 DPYD DPYS UMPS UPB1
3
Show member pathways
12.12 DHODH DPYD DPYS UMPS UPB1
4
Show member pathways
11.7 DHODH DPYD DPYS UMPS UPB1
5
Show member pathways
11.15 DHODH DPYD DPYS UMPS UPB1
6
Show member pathways
11.08 DPYD DPYS UPB1
7 10.78 DPYD DPYS UPB1
8
Show member pathways
10.69 DPYD DPYS UPB1

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 cytoplasm GO:0005737 9.1 AASS DHODH DPYD DPYS UMPS UPB1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.71 AASS DHODH DPYD
2 metabolic process GO:0008152 9.69 AASS UMPS UPB1
3 female pregnancy GO:0007565 9.52 DHODH UMPS
4 lactation GO:0007595 9.49 DHODH UMPS
5 pyrimidine nucleotide biosynthetic process GO:0006221 9.48 DHODH UMPS
6 de novo pyrimidine nucleobase biosynthetic process GO:0006207 9.46 DHODH UMPS
7 beta-alanine metabolic process GO:0019482 9.43 DPYS UPB1
8 de novo UMP biosynthetic process GO:0044205 9.4 DHODH UMPS
9 pyrimidine nucleoside biosynthetic process GO:0046134 9.37 DHODH UMPS
10 thymine catabolic process GO:0006210 9.32 DPYD DPYS
11 beta-alanine biosynthetic process GO:0019483 9.26 DPYD UPB1
12 uracil catabolic process GO:0006212 9.16 DPYD DPYS
13 pyrimidine nucleobase catabolic process GO:0006208 8.96 DPYD DPYS
14 pyrimidine nucleoside catabolic process GO:0046135 8.8 DPYD DPYS UPB1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.13 AASS DHODH DPYD
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 8.62 DHODH DPYD

Sources for 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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