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familial porphyria cutanea tarda

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.
Uniprot Description A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage.
Mondo Term and Equivalent IDs
MONDO:0008296:  familial porphyria cutanea tarda
Orphanet:443062: 
SCTID:59229005: 
UMLS:C0268323: