MCID: DHY011
MIFTS: 22

Dihydropyrimidinase Deficiency malady

Genetic diseases (common) category

Summaries for Dihydropyrimidinase Deficiency

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34MalaCards
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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 Dihydrothymine and 5,6-dihydrothymine have been mentioned in the context of this disorder.

Aliases & Classifications for Dihydropyrimidinase Deficiency

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21GeneTests, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

dihydropyrimidinase deficiency 21 23 63


Related Diseases for Dihydropyrimidinase Deficiency

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18GeneCards, 19GeneDecks
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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 deficiency30.5DPYS, DPYD
25-fluorouracil toxicity30.3DPYD

Symptoms for Dihydropyrimidinase Deficiency

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Drugs & Therapeutics for Dihydropyrimidinase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Dihydropyrimidinase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropyrimidinase Deficiency21 23 DPYS

Anatomical Context for Dihydropyrimidinase Deficiency

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Animal Models for Dihydropyrimidinase Deficiency or affiliated genes

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Publications for Dihydropyrimidinase Deficiency

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53PubMed
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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

Variations for Dihydropyrimidinase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dihydropyrimidinase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1DPYSNM_001385.2(DPYS): c.1001A> G (p.Gln334Arg)single nucleotide variantPathogenicrs121964923GRCh37Chr 8, 105440299: 105440299
2DPYSNM_001385.2(DPYS): c.1303G> A (p.Gly435Arg)single nucleotide variantPathogenicrs267606773GRCh37Chr 8, 105405152: 105405152
3DPYSNM_001385.2(DPYS): c.1078T> C (p.Trp360Arg)single nucleotide variantPathogenicrs121964924GRCh37Chr 8, 105440222: 105440222
4DPYSNM_001385.2(DPYS): c.1235G> T (p.Arg412Met)single nucleotide variantPathogenicrs267606774GRCh37Chr 8, 105436475: 105436475

Expression for genes affiliated with Dihydropyrimidinase Deficiency

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2BioGPS, 16Gene 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

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters, 52PharmGKB
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Pathways related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
9.1DPYS, DPYD
2
Show member pathways
9.1DPYS, DPYD
3
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
9.1DPYS, DPYD
4
Show member pathways
9.1DPYD, DPYS
5
Show member pathways
phenylethylamine degradation I39
9.1DPYS, DPYD
6
Show member pathways
thymine degradation39
pyrimidine deoxyribonucleosides degradation39
uracil degradation I (reductive)39
pyrimidine ribonucleosides degradation39
9.1DPYS, DPYD
79.1DPYS, DPYD
8
Show member pathways
9.1DPYS, DPYD

Compounds for genes affiliated with Dihydropyrimidinase Deficiency

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25HMDB, 46Novoseek
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Compounds related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Dihydrothymine259.4DPYS, DPYD
25,6-dihydrothymine469.3DPYS, DPYD
3dihydrouracil46 2510.3DPYD, DPYS
4molybdenum46 2510.3DPYS, DPYD
5purine nucleoside469.2DPYS, DPYD
6thymine46 2510.2DPYD, DPYS
7pyrimidine46 2510.1DPYS, DPYD
8thymidine46 2510.1DPYS, DPYD
9purine46 2510.0DPYS, DPYD
105fluorouracil468.8DPYS, DPYD

GO Terms for genes affiliated with Dihydropyrimidinase Deficiency

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17Gene Ontology
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Biological processes related to Dihydropyrimidinase Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1uracil catabolic processGO:0062129.3DPYS, DPYD
2thymine catabolic processGO:0062109.2DPYS, DPYD
3pyrimidine nucleobase catabolic processGO:0062089.2DPYS, DPYD
4pyrimidine nucleoside catabolic processGO:0461359.1DPYD, DPYS
5small molecule metabolic processGO:0442819.1DPYS, DPYD
6pyrimidine nucleobase metabolic processGO:0062069.0DPYS, DPYD
7nucleobase-containing small molecule metabolic processGO:0550868.8DPYS, DPYD

Products for genes affiliated with Dihydropyrimidinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydropyrimidinase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet