eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dihydropyrimidine dehydrogenase deficiency | ||||
| Disease ID | 221 |
|---|---|
| Disease | dihydropyrimidine dehydrogenase deficiency |
| Definition | An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. |
| Synonym | deficiencies, dihydropyrimidine dehydrogenase deficiencies, dpd deficiency, dihydropyrimidine dehydrogenase deficiency, dpd dehydrogenase deficiencies, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidine dihydropyrimidine dehydrogenase deficiencies dihydropyrimidine dehydrogenase deficiency (disorder) dihydropyrimidine dehydrogenase deficiency [disease/finding] dihydrothymine dehydrogenase deficiency dihydrouracil dehydrogenase (nadp) deficiency dihydrouracil dehydrogenase (nadp+) deficiency dihydrouracil dehydrogenase (nadp+) deficiency (disorder) dihydrouracil dehydrogenase (nadp+) deficiency dihydrouracil dehydrogenase (nadp+) deficiency (disorder) dihydrouracil dehydrogenase (nadp^+^) deficiency dihydrouracil dehydrogenase (nadp^+^) deficiency (disorder) dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency (disorder) dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency (disorder) dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency (disorder) dihydrouracil dehydrogenase deficiency dpd deficiencies dpd deficiency dpyd deficiency familial pyrimidemia familial pyrimidemias familial pyrimidinaemia familial pyrimidinemia familial pyrimidinemias hereditary thymine uraciluria hereditary thymine-uraciluria hereditary thymine-uracilurias pyrimidemia, familial pyrimidemias, familial pyrimidinemia, familial pyrimidinemias, familial sensitivity to fluorouracil toxicity thymine uraciluria, hereditary thymine-uracilurea thymine-uraciluria thymine-uraciluria, hereditary thymine-uracilurias, hereditary |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1959620 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0007113 | rectal cancer | 3 C0009402 | colorectal cancer | 3 C0025362 | mental retardation | 1 C0027947 | neutropenia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | Symbol | Locus(Total Locus:1) DPYD | 1p21.3 |
| Disease ID | 221 |
|---|---|
| Disease | dihydropyrimidine dehydrogenase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 221 |
|---|---|
| Disease | dihydropyrimidine dehydrogenase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1868691 | thymine-uraciluria |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| DPYD | c.1905+1G>A | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1801265 | 18987736 | 1806 | DPYD | umls:C1959620 | UNIPROT | DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. | 0.377882826 | 2008 | DPYD | 1 | 97883329 | A | G |
| rs1801266 | 9266349 | 1806 | DPYD | umls:C1959620 | UNIPROT | Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. | 0.377882826 | 1997 | DPYD | 1 | 97691776 | G | A |
| rs1801267 | 9266349 | 1806 | DPYD | umls:C1959620 | UNIPROT | Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. | 0.377882826 | 1997 | DPYD;DPYD-AS1 | 1 | 97098598 | C | T |
| rs367619008 | 21420945 | 1806 | DPYD | umls:C1959620 | BeFree | Like other DPD variants attenuating FAD binding, Lys63Glu should be included in screening for DPD deficiency. | 0.377882826 | 2011 | DPYD | 1 | 97828160 | T | C |
| rs386467430 | 11988088 | 1806 | DPYD | umls:C1959620 | BeFree | Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leu, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport. | 0.377882826 | 2002 | NA | NA | NA | NA | NA |
| rs67376798 | 11988088 | 1806 | DPYD | umls:C1959620 | BeFree | Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leu, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport. | 0.377882826 | 2002 | DPYD | 1 | 97082391 | T | A |
| rs72547601 | 11988088 | 1806 | DPYD | umls:C1959620 | BeFree | Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leu, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport. | 0.377882826 | 2002 | DPYD | 1 | 97079121 | T | C |
| rs72549304 | 11988088 | 1806 | DPYD | umls:C1959620 | BeFree | Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leu, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport. | 0.377882826 | 2002 | DPYD | 1 | 97549609 | G | A |
| rs72549308 | 11988088 | 1806 | DPYD | umls:C1959620 | BeFree | Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leu, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport. | 0.377882826 | 2002 | DPYD | 1 | 97699430 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 221 |
|---|---|
| Disease | dihydropyrimidine dehydrogenase deficiency |
| Case | (Waiting for update.) |