familial porphyria cutanea tarda

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Also found in: Acronyms.

familial porphyria cutanea tarda

An autosomal dominant disorder (OMIM:176100) characterised by adult onset of photosensitive dermatitis and copious urinary excretion of uroporphyrin. Iron overload is often present, resulting in liver damage. 

Molecular pathology
Caused by defects of UROD, which encodes uroporphyrinogen decarboxylase, an enzyme in the heme biosynthetic pathway.