Preferred Label : Dihydropyrimidine dehydrogenase deficiency;
Symbol : DPYDD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Dpd deficiency; Dpyd deficiency; Thymine-uraciluria, hereditary; Pyrimidinemia, familial;
Included titles and symbols : 5-fluorouracil toxicity;
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).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the dihydropyrimidine dehydrogenase gene (DPYD, 612779.0001).;
Laboratory abnormalities : Increased urinary uracil; Increased urinary thymine; Decreased or absent dihydropyrimidine dehydrogenase activity;
Prefixed ID : #274270;
Origin ID : 274270;
UMLS CUI : C1959620;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)