MCID: DHY011
MIFTS: 19

Dihydropyrimidinase Deficiency malady

Summaries for Dihydropyrimidinase Deficiency

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33MalaCards
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MalaCards: Dihydropyrimidinase Deficiency is related to dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. An important gene associated with Dihydropyrimidinase Deficiency is DPYS (dihydropyrimidinase), and among its related pathways are Purine metabolism and Glucuronidation. The compounds 5,6-dihydrothymine and dihydrouracil have been mentioned in the context of this disorder.

Aliases & Classifications for Dihydropyrimidinase Deficiency

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20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

dihydropyrimidinase deficiency 20 22 61


Related Diseases for Dihydropyrimidinase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Dihydropyrimidinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dihydropyrimidine dehydrogenase deficiency30.5DPYD, DPYS
25-fluorouracil toxicity10.0DPYD

Clinical Features for Dihydropyrimidinase Deficiency

Drugs & Therapeutics for Dihydropyrimidinase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dihydropyrimidinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Dihydropyrimidinase Deficiency

Search NIH Clinical Center for Dihydropyrimidinase Deficiency

Search CenterWatch for Dihydropyrimidinase Deficiency

Genetic Tests for Dihydropyrimidinase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Dihydropyrimidinase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropyrimidinase Deficiency20 22 DPYS

Anatomical Context for Dihydropyrimidinase Deficiency

Animal Models for Dihydropyrimidinase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dihydropyrimidinase Deficiency

Sources:
51PubMed
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Articles related to Dihydropyrimidinase Deficiency:

(show all 14)
idTitleAuthorsYear
1
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria. (23732435)
2013
2
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. (23430934)
2012
3
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. (20362666)
2010
4
Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency. (18600547)
2008
5
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. (17383919)
2007
6
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. (14555507)
2003
7
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. (12829003)
2003
8
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. (9718352)
1998
9
Dihydropyrimidinase deficiency (dihydropyrimidinuria)]. (9590033)
1998
10
Clinical and biochemical aspects of dihydropyrimidinase deficiency. (9598044)
1998
11
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? (9323563)
1997
12
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. (9266350)
1997
13
Dihydropyrimidinase deficiency, a progressive neurological disorder? (9208410)
1997
14
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. (7541877)
1993

Genetic Variations for Dihydropyrimidinase Deficiency

Expression for genes affiliated with Dihydropyrimidinase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dihydropyrimidinase Deficiency

Search GEO for disease gene expression data for Dihydropyrimidinase Deficiency.

Pathways for genes affiliated with Dihydropyrimidinase Deficiency

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 50PharmGKB, 12EMD Millipore
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Pathways related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1DPYS, DPYD
2
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9.1DPYD, DPYS
3
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9.1DPYS, DPYD
4
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9.1DPYD, DPYS
59.1DPYD, DPYS
6
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9.1DPYS, DPYD
7
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9.1DPYS, DPYD
89.1DPYD, DPYS

Compounds for genes affiliated with Dihydropyrimidinase Deficiency

Sources:
45Novoseek, 24HMDB
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Compounds related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15,6-dihydrothymine459.3DPYS, DPYD
2dihydrouracil45 2410.3DPYS, DPYD
3molybdenum45 2410.3DPYS, DPYD
4purine nucleoside459.2DPYS, DPYD
5thymine45 2410.2DPYD, DPYS
6pyrimidine45 2410.1DPYS, DPYD
7thymidine45 2410.1DPYS, DPYD
8purine45 2410.0DPYD, DPYS
95fluorouracil458.8DPYS, DPYD

GO Terms for genes affiliated with Dihydropyrimidinase Deficiency

Sources:
16Gene Ontology
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Biological processes related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1uracil catabolic processGO:0062129.2DPYD, DPYS
2thymine catabolic processGO:0062109.2DPYD, DPYS
3pyrimidine nucleobase catabolic processGO:0062089.1DPYD, DPYS
4nucleobase-containing small molecule metabolic processGO:0550869.1DPYD, DPYS
5pyrimidine nucleoside catabolic processGO:0461359.0DPYS, DPYD
6pyrimidine nucleobase metabolic processGO:0062068.8DPYD, DPYS

Products for genes affiliated with Dihydropyrimidinase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydropyrimidinase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet