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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol PCD
Location 10q22
Name hyperphenylalaninemia with primapterinuria
Other name(s)
  • hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency . primapterinuria
  • Corresponding gene PCBD1
    related resource Premature Centromere Division -BIOMED database
    Main clinical features mild with excretion of 7-biopterin
    Genetic determination
    Function/system disorder
    Type disease
    Gene product
    Name pterin-4-alpha-carbinolamine dehydratase (PCBD)