MCID: DHY011
MIFTS: 22

Dihydropyrimidinase Deficiency malady

Genetic diseases (common) category
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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 Dihydrothymine and 5,6-dihydrothymine have been mentioned in the context of this disorder.

Aliases & Classifications for Dihydropyrimidinase Deficiency

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20GeneTests, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

dihydropyrimidinase deficiency 20 22 62


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 deficiency30.5DPYS, DPYD
25-fluorouracil toxicity30.3DPYD

Symptoms for Dihydropyrimidinase Deficiency

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Drugs & Therapeutics for Dihydropyrimidinase Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dihydropyrimidinase Deficiency

Search NIH Clinical Center 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

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Animal Models for Dihydropyrimidinase Deficiency or affiliated genes

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Publications for Dihydropyrimidinase Deficiency

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52PubMed
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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, 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

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 51PharmGKB
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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 degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
9.1DPYS, DPYD
2
Show member pathways
9.1DPYS, DPYD
3
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
9.1DPYS, DPYD
4
Show member pathways
9.1DPYD, DPYS
5
Show member pathways
phenylethylamine degradation I38
9.1DPYS, DPYD
6
Show member pathways
thymine degradation38
pyrimidine deoxyribonucleosides degradation38
uracil degradation I (reductive)38
pyrimidine ribonucleosides degradation38
9.1DPYS, DPYD
79.1DPYS, DPYD
8
Show member pathways
9.1DPYS, DPYD

Compounds for genes affiliated with Dihydropyrimidinase Deficiency

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

idCompoundScoreTop Affiliating Genes
1Dihydrothymine249.4DPYS, DPYD
25,6-dihydrothymine459.3DPYS, DPYD
3dihydrouracil45 2410.3DPYD, DPYS
4molybdenum45 2410.3DPYS, DPYD
5purine nucleoside459.2DPYS, DPYD
6thymine45 2410.2DPYD, DPYS
7pyrimidine45 2410.1DPYS, DPYD
8thymidine45 2410.1DPYS, DPYD
9purine45 2410.0DPYS, DPYD
105fluorouracil458.8DPYS, DPYD

GO Terms for genes affiliated with Dihydropyrimidinase Deficiency

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet