{"orpha":443057,"name":"Sporadic porphyria cutanea tarda","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Porphyria cutanea tarda type I"],"definition":null,"note":"This disease is described under Porphyria cutanea tarda","url":"https://raremap.alftech.space/d/ORPHA-443057/","orphanet_url":"https://www.orpha.net/en/disease/detail/443057","names":{"fr":{"name":"Porphyrie cutanée tardive sporadique","synonyms":["Porphyrie cutanée tardive type I"]},"de":{"name":"Porphyria cutanea tarda,sporadische","synonyms":["Porphyria cutanea tarda Typ I"]},"es":{"name":"Porfiria cutánea tarda esporádica","synonyms":["Porfiria cutánea tarda tipo I"]},"it":{"name":"Porfiria cutanea tarda sporadica","synonyms":["Porfiria cutanea tarda, tipo I"]},"nl":{"name":"Sporadische porphyria cutanea tarda","synonyms":["Porphyria cutanea tarda type I"]},"pt":{"name":"Porfiria cutânea tarda esporádica"},"pl":{"name":"Sporadyczna porfiria skórna późna","synonyms":["Porfiria skórna późna typu I"]},"cs":{"name":"Sporadická porphyria cutanea tarda","synonyms":["Porphyria cutanea tarda, typ I"]},"uk":{"name":"Спорадична пізня порфірія кутикули","synonyms":["Кутикулярна порфірія пізнього типу I"]},"zh":{"name":"零星迟发性皮肤卟啉症","synonyms":["迟发性皮肤卟啉症I型"]},"tr":{"name":"Sporadik porfirya kutanea tarda","synonyms":["Porphyria cutanea tarda tip I"]}},"xrefs":[{"source":"OMIM","code":"176090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1813031784"},{"source":"MONDO","code":"0008295","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867968","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":101330,"name":"Porphyria cutanea tarda","classifications":[150,156,183,187,188]}],"children":[],"genes":[{"symbol":"HFE","name":"homeostatic iron regulator","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23741761[PMID]","hgnc":"4886","ensembl":"ENSG00000010704","omim":"613609","loci":["6p22.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":[],"prevalence":[],"phenotypes":null}