{"orpha":443062,"name":"Familial porphyria cutanea tarda","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Porphyria cutanea tarda type II"],"definition":null,"note":"This disease is described under Porphyria cutanea tarda","url":"https://raremap.alftech.space/d/ORPHA-443062/","orphanet_url":"https://www.orpha.net/en/disease/detail/443062","names":{"fr":{"name":"Porphyrie cutanée tardive familiale","synonyms":["Porphyrie cutanée tardive type II"]},"de":{"name":"Porphyria cutanea tarda, familäre","synonyms":["Porphyria cutanea tarda Typ II"]},"es":{"name":"Porfiria cutánea tarda familiar","synonyms":["Porfiria cutánea tarda tipo II"]},"it":{"name":"Porfiria cutanea tarda familiare","synonyms":["Porfiria cutanea tarda, tipo II"]},"nl":{"name":"Familiale porphyria cutanea tarda","synonyms":["Porphyria cutanea tarda type II"]},"pt":{"name":"Porfiria cutânea tarda, forma familiar"},"pl":{"name":"Rodzinna porfiria skórna późna","synonyms":["Porfiria skórna późna typu II"]},"cs":{"name":"Familiární porphyria cutanea tarda","synonyms":["Porphyria cutanea tarda, typ II"]},"uk":{"name":"Сімейна пізня порфірія","synonyms":["Кутикулярна порфірія пізнього типу II"]},"zh":{"name":"家族性迟发性卟啉症皮肤","synonyms":["迟发性皮肤卟啉症II型"]},"tr":{"name":"ailesel porfirya kutanea tarda","synonyms":["Porphyria cutanea tarda tip II"]}},"xrefs":[{"source":"OMIM","code":"176100","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":"1318287619"},{"source":"MONDO","code":"0008296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268323","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":"UROD","name":"uroporphyrinogen decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23741761[PMID]","hgnc":"12591","ensembl":"ENSG00000126088","omim":"613521","loci":["1p34.1"]},{"symbol":"HFE","name":"homeostatic iron regulator","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23741761[PMID]","hgnc":"4886","ensembl":"ENSG00000010704","omim":"613609","loci":["6p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}