Dihydropyrimidine dehydrogenase deficiency, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (DPYD gene) (Sequence Analysis-All Coding Exons) (Prenatal)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000577159.1
Last updated: 2022-05-14
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Test version history
- 577159.1, last updated: 2022-05-14

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Dihydropyrimidine dehydrogenase deficiency
Offered by Intergen

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from OMIM

Dihyropyrimidine dehydrogenase deficiency (DPYDD) 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).

Imported from Human Phenotype Ontology (HPO)

Autism
Congenital ocular coloboma
Lethargy
Microphthalmia
Hypertonia
Hypotonia
Nystagmus
Optic atrophy
Tetraplegia
Seizure
Corpus callosum, agenesis of
Cerebral atrophy
Hyperactivity
Delayed speech and language development
Growth delay
Motor delay
Failure to thrive
Intellectual disability
Uraciluria
Reduced dihydropyrimidine dehydrogenase level
Microcephaly

Show all

Autosomal recessive inheritance

Conditions tested

Dihydropyrimidine dehydrogenase deficiency, 274270, Autosomal recessive (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Practice guidelines

DailyMed Drug Label, 2020
DailyMed Drug Label, FLUOROURACIL, 2020

Molecular resources

Consumer resources

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Dihydropyrimidine dehydrogenase deficiency, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (DPYD gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Indication

Clinical summary

Imported from OMIM

Clinical features

Imported from Human Phenotype Ontology (HPO)

Inheritance pattern