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GTR Home > Conditions/Phenotypes > Familial porphyria cutanea tarda

Familial porphyria cutanea tarda

Synonyms
PCT, ''FAMILIAL'' TYPE; PCT, TYPE II; PORPHYRIA CUTANEA TARDA, TYPE II; PORPHYRIA, HEPATOCUTANEOUS TYPE; UROD DEFICIENCY; UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Familial porphyria cutanea tarda (F-PCT) is characterized by: skin findings including blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and an increased risk for hepatocellular carcinoma (HCC). [from GeneReviews]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PCT, UPD, UROD
    Summary: uroporphyrinogen decarboxylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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