has material basis in germline mutation in DPYD dihydropyrimidine dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency https://www.malacards.org/card/dihydropyrimidine_dehydrogenase_deficiency DOID:14218 NCIT:C84672 SCTID:77365006 icd11.foundation:701689290 DYPD deficiency Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. GARD:0000019 Orphanet:1675 MONDO:0010130 MEDGEN:409522 thymine-uracilurea dihydrouracil dehydrogenase deficiency ICD9:277.2 dihydropyrimidine dehydrogenase deficiency UMLS:C1959620 OMIM:274270 familial pyrimidinaemia familial pyrimidinemia MESH:D054067 MedDRA:10052622 hereditary thymine-uraciluria osteochondrosis osteonecrosis of genetic origin inborn disorder of pyrimidine metabolism