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References OMIM Gene GeneReviews HGMD HGNC
last update : 1/12/2005
Symbol PCT1
Location 1p34.1
Name porphyria cutanea tarda, type I
Other name(s) PCT "sporadic" type
Corresponding gene UROD
Other symbol(s) PCTH, UROD
Main clinical features
  • photosensitive dermatitis, mechanical fragility of the light-exposed skin, hyperpigmentation, hypertrichosis, provoked by various factors , associated with the excretion of large amounts of uroporphyrin in urine, and on biopsy, liver parenchyma cells are also loaded with porphyrins and fluoresce bright red in ultraviolet light
  • Genetic determination autosomal dominant
    Related entries . including hepatoerythropoietic porphyria (HEP) , a severe form of cutaneous porphyria that presents in infancy and is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes
    Function/system disorder metabolism/porphyrin and heme
    Type disease
    Gene product
    Name uroporphyrinogen decarboxylase (UROD)
    Remark(s) likely by heterozygosity to some HFE mutations or by the highly inducible A/A genotype of CYP1A2