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GENATLAS PHENOTYPE
last update : 28-08-2009
Symbol DPYD
Location 1p21.3
Name dihydropyrimidine dehydrogenase (DPD) deficiency
Other name(s) thymine-uraciluria
Corresponding gene DPYD
Other symbol(s) DHPDH
Main clinical features
  • convulsive disorders of variable clinical expression, motor and mental retardation, mild or quite severe, autism, hereditary and sensitivity to fluorouracyl in heterozygotes
  • in complete deficiency, psychomotor retardation and convulsive disorders are relatively frequent manifestations whereas growth retardation, microcephaly, dysmorphia, autism, hypotonia and ocular abnormalities are less frequently observed
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/purine or pyrimidine
    Type disease
    Gene product
    Name dihydropyrimidine dehydrogenase (DPYD)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     deletion of exon 14, the most common mutation
    Remark(s)