Dihydropyrimidinase Deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. (Orphanet Rare Disease Ontology, Orphanet_38874)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C562815
Similar Terms
Downloads & Tools

Genes

1 genes/proteins associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
DPYS dihydropyrimidinase 2.88009