Dihydropyrimidine Dehydrogenase Deficiency

Description

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Dihydropyrimidine Dehydrogenase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Growth delay
  • Nystagmus
  • Strabismus
  • Failure to thrive
And another 37 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Dihydropyrimidine Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc in United States.

ADSL, HSD17B10, MECP2, ABAT, GAMT, GATM, ALG9, SLC9A6, SLC6A8, ARX, CDKL5, CHRNA7, PCDH19, PLP1, SMC1A, GPC3, DPYD, SLC35A2, FOLR1, GABRB2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
DPD 5-Fluorouracil Toxicity.

By Molecular Diagnostic Laboratory LabCorp in United States.

DPYD
Specificity
100 %
Genes
100 %
DPYD. Detection of the mutation IVS14 1G>A by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DPYD
Specificity
100 %
Genes
100 %
DPYD. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DPYD
Specificity
100 %
Genes
100 %
Dihydropyrimidine Dehydrogenase Deficiency (sequence analysis of DPYD gene).

By CGC Genetics in Portugal.

DPYD
Specificity
100 %
Genes
100 %
5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes).

By CGC Genetics in Portugal.

MTHFR, DPYD, TYMS
Specificity
34 %
Genes
100 %
Dihydropyrimidine Dehydrogenase Deficiency.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

DPYD
Specificity
100 %
Genes
100 %
Dihydropyrimidine Dehydrogenase Deficiency via DPYD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DPYD
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Dihydropyrimidine Dehydrogenase Deficiency.

By Bioscientia GmbH Center for Human Genetics in Germany.

DPYD
Specificity
100 %
Genes
100 %
Dihydropyrimidine dehydrogenase (DPD) deficiency.

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

DPYD
Specificity
100 %
Genes
100 %
Dihydropyrimidine dehydrogenase deficiency.

By Centogene AG - the Rare Disease Company in Germany.

DPYD
Specificity
100 %
Genes
100 %
Dihydropyrimidine Dehydrogenase Deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

DPYD
Specificity
100 %
Genes
100 %
Pharmacogenetic panel.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MTHFR, COMT, SOD2, ALDH2, G6PD, UGT1A1, DPYD, ABCB1, CYP2C19, CYP2D6, TPMT, VKORC1, PON1, SLCO1B1, CYP2C9, CYP1A2, BCHE, CYP3A4, ADRB2, NAT2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Metabolic Epilepsy Panel.

By CeGaT GmbH in Germany.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, FH, GAMT, ATIC, GCSH, GLDC, AMT, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR, MOCS2, MOCS1, ALDH4A1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Dihydropyrimidin Dehydrogenase deficiency.

By Praxis fuer Humangenetik Wien in Austria.

DPYD
Specificity
100 %
Genes
100 %
DPYD.

By Division Human Genetics Medical University Innsbruck in Austria.

DPYD
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Toxicity to 5-fluorouracil (5-FU): DPYD gene and TYMS (2R / 2R, 2R / 3R o 3R / 3R) gene sequence analysis and genotype determination.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DPYD, TYMS
Specificity
50 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Dihydropyrimidine Deydrogenase Deficiency (DPYD).

By Integrated Genetics Westborough Integrated Genetics in United States.

DPYD
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
DPYD.

By Fulgent Genetics Fulgent Genetics in United States.

DPYD
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

DPYD
Specificity
100 %
Genes
100 %
Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

DPYD
Specificity
100 %
Genes
100 %
DPYD.

By Genelex in United States.

DPYD
Specificity
100 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Epilepsy Panel.

By Blueprint Genetics in Finland.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics in Finland.

ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Familial pyrimidinemia.

By Bioarray in Spain.

DPYD
Specificity
100 %
Genes
100 %
5-fluorouracil sensitivity.

By Genomic Engenharia Molecular in Brazil.

DPYD
Specificity
100 %
Genes
100 %
Chemo DME Panel.

By Castle Medical Molecular Diagnostics Castle Medical, LLC in United States.

UGT1A1, DPYD, TPMT
Specificity
34 %
Genes
100 %
OneOme RightMed comprehensive test.

By OneOme in United States.

F2, F5, COMT, UGT1A1, DPYD, CYP2C19, CYP2D6, SLC6A4, DRD2, TPMT, VKORC1, SLCO1B1, CYP2C9, HLA-B, CYP1A2, IFNL3, CYP3A4, CYP4F2, CYP3A5, CYP2B6 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Rxight Pharmacogenetics Program.

By MD Labs MD Labs in United States.

MTHFR, COMT, DPYD, CYP2C19, CYP2D6, DRD2, ADRA2A, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK4, CYP2C8, ANKK1, UGT2B15
Specificity
5 %
Genes
100 %
5-FLUOROURACIL TOXICITY.

By Laboratorio de Genetica Clinica SL in Spain.

DPYD
Specificity
100 %
Genes
100 %
Susceptibility to Drugs (5-Fluoruracil) , Sequencing DPYD Gene and Genotype (2R/2R,2R/3R,3R/3R) TYMS Gene.

By Reference Laboratory Genetics in Spain.

DPYD
Specificity
100 %
Genes
100 %
Susceptibility to Drugs (5-Fluoruracil), Deletions-Duplications (MLPA) DPYD Gene.

By Reference Laboratory Genetics in Spain.

DPYD
Specificity
100 %
Genes
100 %
PharmacoScan.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC in United States.

G6PD, UGT1A1, DPYD, CYP2C19, CYP2D6, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5
Specificity
10 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Dihydropyrimidine Dehydrogenase Deficiency Is also known as dpd deficiency, dpyd deficiency, thymine-uraciluria, hereditary, pyrimidinemia, familial;familial pyrimidinemia.



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