{"orpha":95157,"name":"Acute hepatic porphyria","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95157/","orphanet_url":"https://www.orpha.net/en/disease/detail/95157","names":{"fr":{"name":"Porphyrie hépatique aiguë","definition":"Sous-groupe des porphyries caractérisé par la survenue de crises neuro-viscérales avec ou sans signes cutanés. Elles englobent quatre maladies : la porphyrie aiguë intermittente (PAI ; la plus fréquente), la porphyrie variegata (PV), la coproporphyrie héréditaire (CH) et le déficit héréditaire en acide delta aminolévulinique-déshydratase (DALAD ; extrêmement rare)."},"de":{"name":"Porphyrie, akute hepatische","definition":"Eine Untergruppe der Porphyrie, die durch das Auftreten von neuroviszeralen Anfällen mit oder ohne Hautsymptomen gekennzeichnet ist. Sie umfasst vier Erkrankungen: akute intermittierende Porphyrie (AIP; die häufigste Form), Porphyria variegata (PV), hereditäre Koproporphyrie (HC) und hereditären Delta-Aminolävulinsäure-Dehydratase-Mangel (ADP; äußerst selten)."},"es":{"name":"Porfiria hepática aguda","definition":"Es un subtipo de porfiria caracterizado por la aparición de ataques neuroviscerales con o sin signos cutáneos. Engloba cuatro enfermedades: la porfiria aguda intermitente (PAI; la más común), la porfiria variegata (VP), la coproporfiria hereditaria (CH) y la deficiencia hereditaria de ácido delta-aminolevulínico (ALAD; extremadamente infrecuente)."},"it":{"name":"Porfiria epatica acuta"},"nl":{"name":"Acute hepatische porfyrie","definition":"Een subgroep van porfyrie, gekenmerkt door het optreden van neuroviscerale aanvallen met of zonder cutane verschijnselen. De groep omvat vier ziekten: acute intermitterende porfyrie (PAI; de meest voorkomende), porphyria variegata (VP), hereditaire coproporfyrie (HC), en erfelijke deficiëntie van delta-aminolevulinaatdehydratase (ADP; uiterst zeldzaam)."},"pt":{"name":"Porfiria hepática aguda","definition":"Um subgrupo de porfiria caracterizado pela ocorrência de ataques neuroviscerais com ou sem sinais cutâneos. Abrange quatro doenças: porfiria intermitente aguda (PAI; a mais comum), porfiria variegata (VP), coproporfiria hereditária (HC) e deficiência hereditária de ácido delta-aminolevulínico desidratase (ADP; extremamente rara)."},"pl":{"name":"Ostra porfiria wątrobowa"},"cs":{"name":"Akutní jaterní porfyrie"},"uk":{"name":"Гостра печінкова порфірія","definition":"A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare)."},"zh":{"name":"急性肝卟啉症","definition":"一组罕见的卟啉病亚群，其特征是伴或不伴皮肤表现的神经内脏症状发作。急性肝卟啉病包括四种疾病：急性间歇性卟啉（最常见）、变异性卟啉病、遗传性粪卟啉病和遗传性δ-氨基乙酰丙酸脱水酶缺陷（极为罕见）。"},"tr":{"name":"Akut hepatik porfiri"}},"xrefs":[{"source":"ICD-11","code":"5C58.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1972309302"},{"source":"MeSH","code":"C562618","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":659694,"name":"Hepatic porphyria","classifications":[150,156,183,187,188]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[{"orpha":79276,"name":"Acute intermittent porphyria","type":"Disease"},{"orpha":79273,"name":"Hereditary coproporphyria","type":"Disease"},{"orpha":100924,"name":"Porphyria due to ALA dehydratase deficiency","type":"Disease"},{"orpha":79473,"name":"Variegate porphyria","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}