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GENATLAS PHENOTYPE
last update : 16-03-2011
Symbol DHFRD
Location 5q13.2
Name dehydrofolate deficiency
Other name(s) anemia, megaloblastic
Corresponding gene DHFR
Main clinical features
  • megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency
  • cerebral folate levels, anemia, and pancytopenia of DHFR deficiency can be corrected by treatment with folinic acid (PMID: 21310276,, PMID: 21310277))
    • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name a critical enzyme in folate metabolism and an important target of antineoplastic, antimicrobial, and antiinflammatory drugs.
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     homozygous DHFR mutation p.Asp153Val PMID: 21310277
          homozygous missense change, p.Leu80Phe.PMID: 21310276
    Remark(s)