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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

Excerpted from the GeneReview: Familial Porphyria Cutanea Tarda
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).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Sean Rudnick
John Phillips
Herbert Bonkovsky
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Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

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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