Details of Disease

General Information of Disease (ID: DISYJ053)

Disease Name Familial porphyria cutanea tarda
Synonyms
PCT; porphyria cutanea tarda; PCT, type 2; porphyria, Hepatocutaneous type; Urod deficiency; PCT, 'familial' type; uroporphyrinogen decarboxylase deficiency; porphyria cutanea tarda, type 2; porphyria, hepatoerythropoietic; porphyria cutanea tarda type II; hereditary porphyria cutanea tarda; porphyria cutanea tarda, susceptibility to
Definition
An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.|Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial
Disease Hierarchy
DISHNFD7: Porphyria cutanea tarda
DISI1WCX: UROD-related inherited porphyria
DISYJ053: Familial porphyria cutanea tarda
Disease Identifiers
MONDO ID
MONDO_0008296
UMLS CUI
C0268323
MedGen ID
75669
Orphanet ID
443062
SNOMED CT ID
59229005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UROD OTPP4UH5 Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.