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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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:176100
Orphanet:443062
SCTID:59229005
UMLS:C0268323
MONDO:0008296
High level summary of knowledge for a disease, including descriptions and datasource references.