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.
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
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
Search interest in DPYD
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 United States.
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 United States.
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 United States.
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
More info about this panel United States.
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 United States.
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 Canada.
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.
More info about this panel Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 Netherlands.
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 United States.
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
More info about this panel Germany.
Dihydropyrimidine Dehydrogenase Deficiency Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the DPYD gene.
More info about this panel Germany.
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 Netherlands.
Dihydropyrimidine dehydrogenase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DPYD gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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
More info about this panel Germany.
Dihydropyrimidin Dehydrogenase deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the DPYD gene.
More info about this panel Austria.
DPYD Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the DPYD gene.
More info about this panel Austria.
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
More info about this panel United States.
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 Spain.
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 United States.
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 United States.
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 United States.
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
More info about this panel United States.
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
More info about this panel United States.
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 United States.
DPYD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DPYD gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
DPYD Panel
United States.
By Genelex
This panel specifically test the DPYD gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Familial pyrimidinemia Panel
Spain.
By Bioarray
This panel specifically test the DPYD gene.
More info about this panel Spain.
5-fluorouracil sensitivity Panel
Brazil.
By Genomic Engenharia Molecular
This panel specifically test the DPYD gene.
More info about this panel Brazil.
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
More info about this panel United States.
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 United States.
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
More info about this panel United States.
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
More info about this panel United States.
5-FLUOROURACIL TOXICITY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the DPYD gene.
More info about this panel Spain.
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 United States.
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 Spain.
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 Spain.
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
More info about this panel United States.
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
More info about this panel United States.
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 United States.
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
More info about this panel United States.
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 United States.
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 Canada.
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