Dihydropyrimidine dehydrogenase deficiency

Preferred Label : Dihydropyrimidine dehydrogenase deficiency;

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;

Details

Origin ID

274270;

UMLS CUI

C1959620;

Automatic exact mappings (from CISMeF team)
- DPD deficiency [MedDRA LLT]
- Prediction of 5-fluorouracil toxicity [ORDO Disease]
Currated CISMeF NLP mapping
- Dihydropyrimidine Dehydrogenase Deficiency [NCIt concept]
- Dihydropyrimidine dehydrogenase deficiency [ICD-11 More detail]
- Dihydropyrimidine dehydrogenase deficiency [MedDRA Preferred Term]
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
- Dihydropyrimidine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Reduced dihydropyrimidine dehydrogenase level [HPO term]
- dihydropyrimidine dehydrogenase deficiency [DO Concept]
- dihydropyrimidine dehydrogenase deficiency [Disease (Nov.)]
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
- dihydrouracil dehydrogenase (nadp+) deficiency [SNOMED Notion]
DO Cross reference
- dihydropyrimidine dehydrogenase deficiency [DO Concept]
Genes related to phenotype
- Dihydropyrimidine dehydrogenase [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Coloboma [HPO term]
- Delayed speech and language development [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hyperactivity [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Reduced dihydropyrimidine dehydrogenase level [HPO term]
- Seizure [HPO term]
- Speech delay [HPO term]
- Tetraplegia [HPO term]
- Uraciluria [HPO term]
ORDO concept(s)
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DPD deficiency [MedDRA LLT]
- Dihydropyrimidine Dehydrogenase Deficiency [NCIt concept]
- Dihydropyrimidine dehydrogenase deficiency [MedDRA Preferred Term]
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
- Dihydropyrimidine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Dihydrouracil Dehydrogenase Deficiency [NCIt concept]
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
- dihydrouracil dehydrogenase (nadp+) deficiency [SNOMED Notion]

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