- Concept UI
- M0500884
- Scope Note
- 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.
- Terms
-
Dihydropyrimidine Dehydrogenase Deficiency
Preferred Term
Term UI
T679827
Date08/17/2006
LexicalTag
NON
ThesaurusID
-
Pyrimidinemia, Familial
Term UI
T812679
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Thymine-Uraciluria, Hereditary
Term UI
T679829
Date08/17/2006
LexicalTag
NON
ThesaurusID
-
Familial Pyrimidinemia
Term UI
T679828
Date08/17/2006
LexicalTag
NON
ThesaurusID
-
Hereditary Thymine-Uraciluria
Term UI
T841274
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
DPD Deficiency
Term UI
T843522
Date05/02/2013
LexicalTag
ABX
ThesaurusID
GHR (2014)
-
Familial Pyrimidemia
Term UI
T841273
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)