{"orpha":738,"name":"Porphyria","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare hereditary metabolic diseases characterized by intermittent neurovisceral manifestations and/or skin lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-738/","orphanet_url":"https://www.orpha.net/en/disease/detail/738","names":{"fr":{"name":"Porphyrie","definition":"Groupe de maladies métaboliques héréditaires rares caractérisées par des manifestations neuro-viscérales intermittentes, des lésions cutanées ou par une combinaison de ces deux manifestations."},"de":{"name":"Porphyrie","definition":"Eine Gruppe seltener erblicher Stoffwechselerkrankungen, die durch intermittierende neuroviszerale Manifestationen und/oder Hautläsionen gekennzeichnet sind."},"es":{"name":"Porfiria","definition":"Es un grupo poco frecuente de enfermedades metabólicas hereditarias caracterizadas por manifestaciones neuroviscerales intermitentes y/o lesiones cutáneas."},"it":{"name":"Porfiria"},"nl":{"name":"Porfyrie","definition":"Een groep van zeldzame erfelijke metabole aandoeningen, gekenmerkt door intermitterende neuroviscerale manifestaties en/of huidlaesies."},"pt":{"name":"Porfiria","synonyms":["Coproporfiria hereditária","Protoporfiria eritropoiética"],"definition":"Grupo de doenças metabólicas hereditárias raras caracterizadas por manifestações neuroviscerais intermitentes e/ou lesões cutâneas."},"pl":{"name":"Porfiria"},"cs":{"name":"Porfyrie"},"uk":{"name":"Порфірія","definition":"A group of rare hereditary metabolic diseases characterized by intermittent neurovisceral manifestations and/or skin lesions."},"zh":{"name":"卟啉病"},"tr":{"name":"Porfiri"}},"xrefs":[{"source":"ICD-10","code":"E80.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E80.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C58.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"98434199"},{"source":"MONDO","code":"19142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011164","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848305","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309813,"name":"Disorder of porphyrin and heme metabolism","classifications":[150,156]},{"orpha":183490,"name":"Genetic photodermatosis","classifications":[156]},{"orpha":79387,"name":"Metabolic disease with skin involvement","classifications":[156,187]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]}],"children":[{"orpha":659681,"name":"Erythropoietic porphyria","type":"Clinical group"},{"orpha":659694,"name":"Hepatic porphyria","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.25,"area":"Worldwide","status":"Not yet validated","source":"15652607[PMID]_ORPHANET"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Japan","status":"Validated","source":"15239394[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.52,"area":"Denmark","status":"Validated","source":"27139922[PMID]"}],"phenotypes":null}