{"orpha":79473,"name":"Variegate porphyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Porphyria variegata","Protoporphyrinogen oxidase deficiency"],"definition":"A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79473/","orphanet_url":"https://www.orpha.net/en/disease/detail/79473","names":{"fr":{"name":"Porphyrie variegate","synonyms":["Déficit en protoporphyrinogène oxydase","Porphyrie variegata"],"definition":"Porphyrie hépatique aiguë rare caractérisée par la survenue de crises neuro-viscérales et/ou par la présence de lésions cutanées."},"de":{"name":"Porphyria variegata","synonyms":["Protoporphyrinogen-Oxidase-Mangel"],"definition":"Eine Unterform der akuten hepatischen Porphyrie, die durch neuroviszerale Anfälle und/oder Hautläsionen gekennzeichnet ist."},"es":{"name":"Porfiria variegata","synonyms":["Deficiencia de protoporfirinógeno oxidasa"],"definition":"Es una porfiria hepática aguda poco frecuente caracterizada por ataques neuroviscerales y/o lesiones cutáneas."},"it":{"name":"Porfiria variegata","synonyms":["Deficit di protoporfirinogeno ossidasi","Porphyria variegata"]},"nl":{"name":"Porphyria variegata","synonyms":["Deficiëntie van protoporfyrinogeenoxidase","Variërende porfyrie"],"definition":"Een zeldzame acute hepatische porfyrie, gekenmerkt door neuroviscerale aanvallen en/of huidlaesies."},"pt":{"name":"Porfiria variegada","synonyms":["Deficiência da protoporfirinogéneo oxidase"],"definition":"Porfiria hepática aguda rara, caracterizada por crises neuroviscerais e/ou lesões cutâneas."},"pl":{"name":"Porfiria mieszana","synonyms":["Niedobór oksydazy protoporfirynogenu","Porfiria różnobarwna"]},"cs":{"name":"Porphyria variegata","synonyms":["Deficit protoporfyrinogenoxidázy","Variegátní porfyrie"]},"uk":{"name":"Варіабельна порфірія","synonyms":["Порфірія строката (Porphyria variegata)","Дефіцит протопорфіриногеноксидази"],"definition":"A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions."},"zh":{"name":"混合型卟啉病","synonyms":["原卟啉原氧化酶缺乏症"]},"tr":{"name":"Porfiria variegata","synonyms":["Variegate porfiri","Protoporfirinojen oksidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"176200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620483","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.13","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1227474618"},{"source":"MONDO","code":"0008297","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D046350","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162532","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7848","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":95157,"name":"Acute hepatic porphyria","classifications":[150,156,181,183,187,188,233]}],"children":[],"genes":[{"symbol":"PPOX","name":"protoporphyrinogen oxidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23409300[PMID]","hgnc":"9280","ensembl":"ENSG00000143224","omim":"600923","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Europe","status":"Not yet validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.32,"area":"Europe","status":"Not yet validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"France","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"France","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Finland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Finland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"Ireland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.64,"area":"Ireland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Italy","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Netherlands","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Italy","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Netherlands","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.007,"area":"Norway","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Norway","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.004,"area":"Spain","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Spain","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.011,"area":"Sweden","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.44,"area":"Sweden","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"area":"Switzerland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.04,"area":"Switzerland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"United Kingdom","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.32,"area":"United Kingdom","status":"Validated","source":"23114748[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-24","source":"12357337[PMID]_22049218[PMID]_20309300[PMID]_31085196[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010472","label":"Abnormal circulating porphyrin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012217","label":"Increased urinary porphobilinogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010473","label":"Porphyrinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003163","label":"Elevated urinary delta-aminolevulinic acid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002595","label":"Ileus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031218","label":"Inappropriate antidiuretic hormone secretion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002203","label":"Respiratory paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Very rare (<4-1%)","criteria":null}]}}