Home Page |
Orphanet | References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 28-08-2009 |
Symbol | DPYD |
Location | 1p21.3 |
Name | dihydropyrimidine dehydrogenase (DPD) deficiency |
Other name(s) | thymine-uraciluria |
Corresponding gene | DPYD |
Other symbol(s) | DHPDH |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/purine or pyrimidine |
Type | disease |
Gene product |
Name | dihydropyrimidine dehydrogenase (DPYD) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|  
|  
| deletion of exon 14, the most common mutation
| |
Remark(s) |