The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouraci... See more...

Aliases for DPYD Gene

Aliases for DPYD Gene

  • Dihydropyrimidine Dehydrogenase 2 3 5
  • Dihydrothymine Dehydrogenase 2 3 4
  • Dihydrouracil Dehydrogenase 2 3 4
  • DPD 2 3 4
  • Dihydropyrimidine Dehydrogenase [NADP(+)] 3 4
  • EC 4 50
  • DHPDHase 2 4
  • DPYD 5
  • DHP 3

External Ids for DPYD Gene

Previous GeneCards Identifiers for DPYD Gene

  • GC01M097839
  • GC01M096644
  • GC01M096828
  • GC01M097255
  • GC01M097543
  • GC01M095664

Summaries for DPYD Gene

Entrez Gene Summary for DPYD Gene

  • The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

CIViC Summary for DPYD Gene

GeneCards Summary for DPYD Gene

DPYD (Dihydropyrimidine Dehydrogenase) is a Protein Coding gene. Diseases associated with DPYD include Dihydropyrimidine Dehydrogenase Deficiency and Macroglossia. Among its related pathways are Beta-alanine metabolism (TR) and Pantothenate and CoA biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and flavin adenine dinucleotide binding. An important paralog of this gene is DHODH.

UniProtKB/Swiss-Prot Summary for DPYD Gene

  • Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.

Gene Wiki entry for DPYD Gene

PharmGKB "VIP" Summary for DPYD Gene

No data available for Tocris Summary , Rfam classification and piRNA Summary for DPYD Gene

Genomics for DPYD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DPYD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J097918 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 256.3 +75.3 75288 5 ZNF207 ZNF600 BRCA1 ZIC2 YY1 CEBPB SIN3A TARDBP TRIM22 ZNF341 DPYD lnc-PLPPR5-13 LOC100419654 ENSG00000270911
GH01J097996 Enhancer 0.3 Ensembl 250.7 -1.9 -1901 0.2 JUND DPYD MIR137 MIR137HG MK631885 MK631886 HSALNG0005438 lnc-SNX7-10 lnc-SNX7-9 MK631887 SNX7
GH01J097993 Enhancer 0.2 FANTOM5 250.7 +0.9 898 0.4 DPYD MK631885 MK631886 HSALNG0005438 lnc-SNX7-10 MK631887 MIR137 MIR137HG
GH01J097943 Enhancer 0.9 FANTOM5 Ensembl ENCODE 11.7 +51.6 51600 3.2 JUND ATF2 POLR2A CHD2 MTA2 EP300 ATF7 LINC01930 DPYD ENSG00000259946 MIR137HG
GH01J097827 Enhancer 0.9 UCNEbase Ensembl 11.6 +166.9 166899 0.6 TRIM22 BHLHE40 ZNF24 BMI1 RFX1 PKNOX1 TARDBP CREM MTA2 POLR2A DPYD HSALNG0005428-002 lnc-SNX7-11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPYD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPYD

Top Transcription factor binding sites by QIAGEN in the DPYD gene promoter:
  • CUTL1
  • E47
  • FOXJ2
  • FOXJ2 (long isoform)
  • Lmo2
  • Sp1
  • Tal-1

Genomic Locations for DPYD Gene

Latest Assembly
917,258 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
843,317 bases
Minus strand

(GRCh37/hg19 by Ensembl)
843,307 bases
Minus strand

Genomic View for DPYD Gene

Genes around DPYD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPYD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPYD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPYD Gene

Proteins for DPYD Gene

  • Protein details for DPYD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dihydropyrimidine dehydrogenase [NADP(+)]
    Protein Accession:
    Secondary Accessions:
    • A2RRQ2
    • A2RRQ3
    • A8K5A2
    • A8MWG9
    • B1AN21
    • E9PFN1
    • Q16694
    • Q16761
    • Q32NB0
    • Q96HL6
    • Q96TH1

    Protein attributes for DPYD Gene

    1025 amino acids
    Molecular mass:
    111401 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for DPYD Gene


neXtProt entry for DPYD Gene

Selected DME Specific Peptides for DPYD Gene


Post-translational modifications for DPYD Gene

  • Ubiquitination at Lys89, Lys107, Lys709, Lys725, and Lys908
  • Modification sites at PhosphoSitePlus

Domains & Families for DPYD Gene

Gene Families for DPYD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for DPYD Gene

  • Pyridine nucleotide-disulphide oxidoreductase, NAD-binding region
  • Pyridine nucleotide-disulphide oxidoreductase, class-II

Suggested Antigen Peptide Sequences for DPYD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53741, moderately similar to Dihydropyrimidine dehydrogenase (B4DML1_HUMAN)
  • Dihydrouracil dehydrogenase (DPYD_HUMAN)
  • DPYD protein (Q32NB0_HUMAN)
  • Dihydropyrimidine dehydrogenase, isoform CRA_a (Q96HL6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dihydropyrimidine dehydrogenase family.
  • Belongs to the dihydropyrimidine dehydrogenase family.
genes like me logo Genes that share domains with DPYD: view

Function for DPYD Gene

Molecular function for DPYD Gene

UniProtKB/Swiss-Prot Function:
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5,6-dihydrouracil + NADP(+) = H(+) + NADPH + uracil; Xref=Rhea:RHEA:18093, ChEBI:CHEBI:15378, ChEBI:CHEBI:15901, ChEBI:CHEBI:17568, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=;.
GENATLAS Biochemistry:
dihydropyrimidine dehydrogenase,pyrimidine catabolic pathway,pyrimidine catabolism

Enzyme Numbers (IUBMB) for DPYD Gene

Phenotypes From GWAS Catalog for DPYD Gene

Gene Ontology (GO) - Molecular Function for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0002058 uracil binding IBA 21873635
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with DPYD: view
genes like me logo Genes that share phenotypes with DPYD: view

Human Phenotype Ontology for DPYD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPYD Gene

MGI Knock Outs for DPYD:
  • Dpyd Dpyd<tm1b(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for DPYD

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPYD

No data available for Transcription Factor Targets and HOMER Transcription for DPYD Gene

Localization for DPYD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPYD Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPYD gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 1512248
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DPYD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPYD Gene

Pathways & Interactions for DPYD Gene

genes like me logo Genes that share pathways with DPYD: view

Pathways by source for DPYD Gene

1 GeneGo (Thomson Reuters) pathway for DPYD Gene
  • Beta-alanine metabolism
1 Cell Signaling Technology pathway for DPYD Gene

UniProtKB/Swiss-Prot Q12882-DPYD_HUMAN

  • Pathway: Amino-acid biosynthesis; beta-alanine biosynthesis.

SIGNOR curated interactions for DPYD Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006145 purine nucleobase catabolic process IMP 11988088
GO:0006208 pyrimidine nucleobase catabolic process ISS --
GO:0006210 thymine catabolic process IDA 10410956
GO:0006212 uracil catabolic process IBA,IDA 1512248
GO:0006214 thymidine catabolic process IDA 1512248
genes like me logo Genes that share ontologies with DPYD: view

Drugs & Compounds for DPYD Gene

(54) Drugs for DPYD Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1763
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 2449
FAD Approved Pharma Target 0
Flavin mononucleotide Approved, Investigational Pharma Target 14
Gimeracil Approved Pharma Target, inhibitor Dihydropyrimidine dehydrogenase inhibitor 0

(45) Additional Compounds for DPYD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5-Fluorodihydrouracil
  • (R)-5-Fluoro-5,6-dihydrouracil
  • DHFU
  • 5,6-Dihydrofluorouracil
  • 5-Dihydrofluorouracil
  • (-)-(S)-5,6-Dihydrothymine
  • (5S)-5-Methyl-1,3-diazinane-2,4-dione
  • 5,6-Dihydro-5-methyluracil
  • 5,6-Dihydrothymine
  • 5-Methyl-5,6-dihydrouracil
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton

(1) ApexBio Compounds for DPYD Gene

Compound Action Cas Number
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
genes like me logo Genes that share compounds with DPYD: view

Drug products for research

Transcripts for DPYD Gene

mRNA/cDNA for DPYD Gene

13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPYD

Alternative Splicing Database (ASD) splice patterns (SP) for DPYD Gene

No ASD Table

Relevant External Links for DPYD Gene

GeneLoc Exon Structure for

Expression for DPYD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPYD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DPYD Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for DPYD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.1) and Testis (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPYD Gene

Protein tissue co-expression partners for DPYD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPYD

SOURCE GeneReport for Unigene cluster for DPYD Gene:


mRNA Expression by UniProt/SwissProt for DPYD Gene:

Tissue specificity: Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.

Evidence on tissue expression from TISSUES for DPYD Gene

  • Liver(4.6)
  • Skin(4.4)
  • Blood(2.9)
  • Intestine(2.8)
  • Nervous system(2.3)
  • Lymph node(2.3)
  • Bone marrow(2)
  • Kidney(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DPYD Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • skull
  • lower limb
  • upper limb
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DPYD: view

Primer products for research

Orthologs for DPYD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DPYD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DPYD 29 30
  • 99.38 (n)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 94 (a)
-- 30
  • 88 (a)
-- 30
  • 85 (a)
(Canis familiaris)
Mammalia DPYD 29 30
  • 92.5 (n)
(Bos Taurus)
Mammalia DPYD 29 30
  • 91.41 (n)
(Monodelphis domestica)
Mammalia DPYD 30
  • 88 (a)
(Mus musculus)
Mammalia Dpyd 29 16 30
  • 86.15 (n)
(Rattus norvegicus)
Mammalia Dpyd 29
  • 85.59 (n)
(Gallus gallus)
Aves DPYD 29 30
  • 80.68 (n)
(Anolis carolinensis)
Reptilia DPYD 30
  • 84 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dpyd 29
  • 76.1 (n)
Str.17288 29
(Danio rerio)
Actinopterygii DPYD (3 of 5) 30
  • 92 (a)
CR855273.1 30
  • 80 (a)
dpyda 30
  • 80 (a)
DPYD (4 of 5) 30
  • 71 (a)
dpydb 29 30
  • 69.02 (n)
Dr.19758 29
Fruit Fly
(Drosophila melanogaster)
Insecta Reg-3 31
  • 61 (a)
su(r) 29 30
  • 60.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001021 29
  • 58.66 (n)
(Caenorhabditis elegans)
Secernentea C25F6.3 31
  • 65 (a)
dpyd-1 29 30
  • 63.14 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLT1 30 32
  • 9 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 69 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6926 29
Species where no ortholog for DPYD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DPYD Gene

Gene Tree for DPYD (if available)
Gene Tree for DPYD (if available)
Evolutionary constrained regions (ECRs) for DPYD: view image
Alliance of Genome Resources:
Additional Orthologs for DPYD

Paralogs for DPYD Gene

Paralogs for DPYD Gene

genes like me logo Genes that share paralogs with DPYD: view

Variants for DPYD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPYD Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1028072 Likely Pathogenic: Dihydropyrimidine dehydrogenase deficiency 97,740,456(-) G/A
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)
1032886 Pathogenic: Dihydropyrimidine dehydrogenase deficiency 97,573,942(-) TCA/T
NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer)
1032887 Pathogenic: Dihydropyrimidine dehydrogenase deficiency 97,573,943(-) C/A
NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter)
1032888 Pathogenic: Dihydropyrimidine dehydrogenase deficiency 97,828,198(-) T/G
1032889 Uncertain Significance: Dihydropyrimidine dehydrogenase deficiency 97,699,552(-) G/A

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DPYD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DPYD Gene

Variant ID Type Subtype PubMed ID
dgv33e214 CNV loss 21293372
dgv376n54 CNV loss 21841781
dgv377n54 CNV loss 21841781
dgv9n21 CNV gain 19592680
esv2167618 CNV deletion 18987734
esv2523572 CNV deletion 19546169
esv2667527 CNV deletion 23128226
esv2673743 CNV deletion 23128226
esv2715174 CNV deletion 23290073
esv2715185 CNV deletion 23290073
esv2715196 CNV deletion 23290073
esv2715207 CNV deletion 23290073
esv2715218 CNV deletion 23290073
esv3304677 CNV mobile element insertion 20981092
esv3307080 CNV mobile element insertion 20981092
esv3347076 CNV insertion 20981092
esv3347093 CNV insertion 20981092
esv3384589 CNV insertion 20981092
esv3422699 CNV insertion 20981092
esv3434662 CNV insertion 20981092
esv3450982 CNV insertion 20981092
esv3578017 CNV loss 25503493
esv3578018 CNV loss 25503493
esv3586876 CNV loss 21293372
esv3586880 CNV loss 21293372
esv3586884 CNV gain 21293372
esv3586886 CNV loss 21293372
esv3586888 CNV loss 21293372
esv3586889 CNV loss 21293372
esv3586891 CNV loss 21293372
esv8104 CNV gain 19470904
nsv1116607 CNV tandem duplication 24896259
nsv1129132 CNV insertion 24896259
nsv1145354 CNV deletion 24896259
nsv1148063 CNV deletion 26484159
nsv1149005 CNV insertion 26484159
nsv160842 CNV deletion 16902084
nsv1988 CNV insertion 18451855
nsv1999 CNV insertion 18451855
nsv2010 CNV deletion 18451855
nsv2021 CNV insertion 18451855
nsv2032 CNV deletion 18451855
nsv462572 CNV loss 19166990
nsv470728 CNV loss 18288195
nsv476745 CNV novel sequence insertion 20440878
nsv477206 CNV novel sequence insertion 20440878
nsv477329 CNV novel sequence insertion 20440878
nsv519191 CNV loss 19592680
nsv528034 CNV gain 19592680
nsv546861 CNV loss 21841781
nsv546862 CNV loss 21841781
nsv546863 CNV loss 21841781
nsv546864 CNV loss 21841781
nsv546865 CNV loss 21841781
nsv546866 CNV loss 21841781
nsv546867 CNV loss 21841781
nsv546868 CNV loss 21841781
nsv830692 CNV gain+loss 17160897
nsv830703 CNV gain+loss 17160897
nsv830714 CNV gain 17160897
nsv830725 CNV loss 17160897

Variation tolerance for DPYD Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.23; 84.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPYD Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPYD Gene

Disorders for DPYD Gene

MalaCards: The human disease database

(37) MalaCards diseases for DPYD Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
dihydropyrimidine dehydrogenase deficiency
  • dpd deficiency
  • congenital macroglossia
  • bunion of great toe
prognathism, mandibular
  • 'habsburg jaw'
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search DPYD in MalaCards View complete list of genes associated with diseases


  • Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]: A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. {ECO:0000269 PubMed:14702039, ECO:0000269 PubMed:16710414, ECO:0000269 PubMed:9266349, ECO:0000269 PubMed:9439663}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for DPYD Gene

thymine-uraciluria,with convulsive disorders of variable clinical expression,motor and mental retardation,mild or quite severe,hereditary and sensitivity to fluorouracyl in heterozygotes

Additional Disease Information for DPYD

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DPYD: view

Publications for DPYD Gene

  1. Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. (PMID: 20385995) Boige V … Laurent-Puig P (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010) 3 22 40
  2. Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine. (PMID: 20507294) Cerić T … Cerić S (Bosnian journal of basic medical sciences 2010) 3 22 40
  3. TPMT and DPD polymorphisms: Efficient screening method for Indian patients considering taking Thiopurine and 5-FU drugs. (PMID: 20037211) Ashavaid TF … Desai D (Disease markers 2009) 3 22 40
  4. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). (PMID: 19296131) van Kuilenburg AB … Rubio-Gozalbo ME (Human genetics 2009) 3 22 40
  5. Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity. (PMID: 19288105) Ticha I … Kleibl Z (Cancer chemotherapy and pharmacology 2009) 3 22 40

Products for DPYD Gene

  • Addgene plasmids for DPYD

Sources for DPYD Gene