{"orpha":101330,"name":"Porphyria cutanea tarda","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PCT"],"definition":"A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101330/","orphanet_url":"https://www.orpha.net/en/disease/detail/101330","names":{"fr":{"name":"Porphyrie cutanée tardive","synonyms":["PCT"],"definition":"Porphyrie hépatique rare à expression cutanée (PCT) caractérisée par une photodermatose bulleuse."},"de":{"name":"Porphyria cutanea tarda (PCT)","definition":"Eine seltene hepatische Porphyrie mit kutaner Manifestation (PCT), die durch bullöse Photodermatose gekennzeichnet ist."},"es":{"name":"Porfiria cutánea tarda","definition":"Es una porfiria hepática poco frecuente con expresión cutánea (PCT) caracterizada por fotodermatosis ampollosa."},"it":{"name":"Porfiria cutanea tarda","synonyms":["PCT"]},"nl":{"name":"Porphyria cutanea tarda","synonyms":["PCT"],"definition":"Een zeldzame hepatische porfyrie met cutane expressie (PCT), gekenmerkt door bulleuze fotodermatose."},"pt":{"name":"Porfiria cutânea tardia","definition":"Porfiria hepática rara com expressão cutânea (PCT) caracterizada por fotodermatose bolhosa."},"pl":{"name":"Porfiria skórna późna","synonyms":["PCT"]},"cs":{"name":"Porphyria cutanea tarda","synonyms":["PCT","Pozdní kožní porfyrie"]},"uk":{"name":"Пізня шкірна порфірія","synonyms":["PCT"],"definition":"A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis."},"zh":{"name":"迟发性皮肤卟啉症","synonyms":["PCT"],"definition":"迟发性皮肤卟啉病(PCT)是最常见的慢性肝卟啉病(见该词条)。它的特点是大疱性光照性皮炎。"},"tr":{"name":"Porfiria kutanea tarda","synonyms":["PCT"]}},"xrefs":[{"source":"OMIM","code":"176090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"176100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C58.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"370983230"},{"source":"MONDO","code":"0015104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162566","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7433","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036183","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":659698,"name":"Hepatic cutaneous porphyria","classifications":[150,156,183,187,188]}],"children":[{"orpha":443062,"name":"Familial porphyria cutanea tarda","type":"Clinical subtype"},{"orpha":443057,"name":"Sporadic porphyria cutanea tarda","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":443062,"name":"Familial porphyria cutanea tarda"}},{"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"],"via":{"orpha":443057,"name":"Sporadic porphyria cutanea tarda"}},{"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"],"via":{"orpha":443062,"name":"Familial porphyria cutanea tarda"}}],"inheritance":["Autosomal dominant","Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Norway","status":"Validated","source":"19233912[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Sweden","status":"Validated","source":"16191856[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"19233912[PMID]_9516680[PMID]_[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-17","source":"18720935[PMID]_30683557[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010472","label":"Abnormal circulating porphyrin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032500","label":"Exacerbated by tobacco use","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010473","label":"Porphyrinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200123","label":"Chronic hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003452","label":"Increased circulating iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012217","label":"Increased urinary porphobilinogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000559","label":"Corneal scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031876","label":"Decreased circulating hepcidin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033197","label":"Hepatic lobular inflammation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032999","label":"Increased fecal porphyrin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001405","label":"Periportal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033196","label":"Portal inflammation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006562","label":"Viral hepatitis","frequency":"Occasional (29-5%)","criteria":null}]}}