DPYD gene related symptoms and diseases

All the information presented here about the DPYD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DPYD gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Autistic behavior Very Common - Between 80% and 100% cases
Delayed speech and language development Very Common - Between 80% and 100% cases
Reduced dihydropyrimidine dehydrogenase activity Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DPYD gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Macrocephaly
  • Myopia
  • Micrognathia
  • Uraciluria
  • Stomatitis
  • Recurrent aspiration pneumonia
  • Intellectual disability, mild
  • Diffuse cerebral atrophy

And 56 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DPYD gene

Here you will find a list of rare diseases related to the DPYD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Alternate names

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial, familial pyrimidinemia, dpyd deficiency, dpd deficiency, thymine-uraciluria, hereditary

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).

Most common symptoms of DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

SOURCES: MESH OMIM ORPHANET

1P21.3 MICRODELETION SYNDROME


Alternate names

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3, del(1)p(21.3)

Description

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

Most common symptoms of 1P21.3 MICRODELETION SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


More info about 1P21.3 MICRODELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for DPYD gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

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Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP

More info about this panel

DPD 5-Fluorouracil Toxicity Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the DPYD gene.

More info about this panel

DPYD. Detection of the mutation IVS14 1G>A by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DPYD gene.

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DPYD. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DPYD gene.

More info about this panel

Dihydropyrimidine Dehydrogenase Deficiency (sequence analysis of DPYD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DPYD gene.

More info about this panel

5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes) Panel

Portugal.

By CGC Genetics 5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes) that also includes the following genes: TYMS DPYD MTHFR

More info about this panel

Dihydropyrimidine Dehydrogenase Deficiency Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the DPYD gene.

More info about this panel

Dihydropyrimidine Dehydrogenase Deficiency via DPYD Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DPYD gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

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Dihydropyrimidine Dehydrogenase Deficiency Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the DPYD gene.

More info about this panel

Dihydropyrimidine dehydrogenase (DPD) deficiency (DPYD) Panel

Netherlands.

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

This panel specifically test the DPYD gene.

More info about this panel

Dihydropyrimidine dehydrogenase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DPYD gene.

More info about this panel

Dihydropyrimidine Dehydrogenase Deficiency Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the DPYD gene.

More info about this panel

Pharmacogenetic panel Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19

More info about this panel

Metabolic Epilepsy Panel Panel

Germany.

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO

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Dihydropyrimidin Dehydrogenase deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the DPYD gene.

More info about this panel

DPYD Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the DPYD gene.

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Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

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Toxicity to 5-fluorouracil (5-FU): DPYD gene and TYMS (2R / 2R, 2R / 3R o 3R / 3R) gene sequence analysis and genotype determination Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Toxicity to 5-fluorouracil (5-FU): DPYD gene and TYMS (2R / 2R, 2R / 3R o 3R / 3R) gene sequence analysis and genotype determination that also includes the following genes: TYMS DPYD

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Dihydropyrimidine Deydrogenase Deficiency (DPYD) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the DPYD gene.

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

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Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

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Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

DPYD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DPYD gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the DPYD gene.

More info about this panel

Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the DPYD gene.

More info about this panel

DPYD Panel

United States.

By Genelex

This panel specifically test the DPYD gene.

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Metabolic Epilepsy Panel Panel

Finland.

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH

More info about this panel

Familial pyrimidinemia Panel

Spain.

By Bioarray

This panel specifically test the DPYD gene.

More info about this panel

5-fluorouracil sensitivity Panel

Brazil.

By Genomic Engenharia Molecular

This panel specifically test the DPYD gene.

More info about this panel

Chemo DME Panel Panel

United States.

By Castle Medical Molecular Diagnostics Castle Medical, LLC Chemo DME Panel that also includes the following genes: TPMT UGT1A1 DPYD

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Medication Response Genetic Test Panel

United States.

By Color Medication Response Genetic Test that also includes the following genes: SLCO1B1 TPMT IFNL3 NUDT15 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5

More info about this panel

OneOme RightMed comprehensive test Panel

United States.

By OneOme OneOme RightMed comprehensive test that also includes the following genes: SLCO1B1 SLC6A4 TPMT UGT1A1 IFNL3 NUDT15 VKORC1 CYP2B6 CYP2C18 CYP2C19

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Rxight Pharmacogenetics Program Panel

United States.

By MD Labs MD Labs Rxight Pharmacogenetics Program that also includes the following genes: SLCO1B1 TPMT UGT2B15 ANKK1 VKORC1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2D6

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5-FLUOROURACIL TOXICITY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the DPYD gene.

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Susceptibility to Drugs (5-Fluoruracil) , Sequencing DPYD Gene and Genotype (2R/2R,2R/3R,3R/3R) TYMS Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DPYD gene.

More info about this panel

Susceptibility to Drugs (5-Fluoruracil), Deletions-Duplications (MLPA) DPYD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DPYD gene.

More info about this panel

PharmacoScan Panel

United States.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC PharmacoScan that also includes the following genes: SLCO1B1 TPMT UGT1A1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 DPYD

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planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

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152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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