{"orpha":79278,"name":"Autosomal erythropoietic protoporphyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPP"],"definition":"A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with photosensitive skin manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79278/","orphanet_url":"https://www.orpha.net/en/disease/detail/79278","names":{"fr":{"name":"Protoporphyrie érythropoïétique autosomique","synonyms":["EPP"],"definition":"Maladie héréditaire rare de la voie métabolique de l'hème caractérisée par une accumulation de protoporphyrine dans le sang, les érythrocytes et les tissus, ainsi que par des symptômes de photosensibilité cutanée."},"de":{"name":"Protoporphyrie, erythropoetische, autosomale Form","synonyms":["EPP"],"definition":"Eine seltene hereditäre Störung des Häm-Stoffwechselwegs, die durch eine Anreicherung von Protoporphyrin im Blut, in den Erythrozyten und im Gewebe sowie durch lichtempfindliche Hauterscheinungen gekennzeichnet ist."},"es":{"name":"Protoporfiria eritropoyética autosómica","synonyms":["PPE"],"definition":"Es un trastorno hereditario poco frecuente de la vía metabólica del hemo caracterizado por el acúmulo de protoporfirina en la sangre, en los eritrocitos y en los tejidos, con manifestaciones de fotosensibilidad cutánea."},"it":{"name":"Protoporfiria eritropoietica autosomica","synonyms":["EPP"],"definition":"La protoporfiria eritropoietica (EPP) è una malattia ereditaria del metabolismo dell'eme, caratterizzata dall'accumulo di protoporfirina nel sangue, negli eritrociti e nei tessuti e da sintomi cutanei di fotosensibilità."},"nl":{"name":"Autosomale erytropoëtische protoporfyrie","synonyms":["EPP","Erythropoietische protoporfyrie"],"definition":"Een zeldzame hereditaire aandoening van de metabole signaalweg van heem, gekenmerkt door accumulatie van protoporfyrine in bloed, erytrocyten en weefsels, met manifestaties van lichtgevoelige huid."},"pt":{"name":"Protoporfiria eritropoiética autossómica","synonyms":["EPP"],"definition":"Doença hereditária rara da via metabólica do heme, caracterizada pela acumulação de protoporfirina no sangue, eritrócitos e tecidos, com manifestações cutâneas fotossensíveis."},"pl":{"name":"Autosomalna protoporfiria erytropoetyczna","synonyms":["EPP"]},"cs":{"name":"Autozomální erytropoetická protoporfyrie","synonyms":["EPP"]},"uk":{"name":"Аутосомна еритропоетична протопорфірія","synonyms":["EPP"],"definition":"A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with photosensitive skin manifestations."},"zh":{"name":"常染色体遗传红细胞生成性原卟啉病","synonyms":["EPP"]},"tr":{"name":"Otozomal eritropoietik protoporfiri","synonyms":["EPP"]}},"xrefs":[{"source":"OMIM","code":"177000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C58.12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1842121166"},{"source":"MONDO","code":"0019263","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D046351","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162568","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4527","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015289","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":659681,"name":"Erythropoietic porphyria","classifications":[150,156,187,188]},{"orpha":98369,"name":"Rare constitutional hemolytic anemia due to an enzyme disorder","classifications":[156,194]}],"children":[],"genes":[{"symbol":"FECH","name":"ferrochelatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23016163[PMID]","hgnc":"3647","ensembl":"ENSG00000066926","omim":"612386","loci":["18q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"Europe","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.92,"area":"Europe","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"France","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"France","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.007,"area":"Italy","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Ireland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Netherlands","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.54,"area":"Italy","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.036,"area":"Norway","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.39,"area":"Netherlands","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.003,"area":"Poland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.77,"area":"Norway","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.003,"area":"Spain","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Poland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Sweden","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Spain","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.035,"area":"Switzerland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.39,"area":"Sweden","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.033,"area":"United Kingdom","status":"Validated","source":"17994169[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Switzerland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.54,"area":"United Kingdom","status":"Validated","source":"17994169[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.75,"area":"Slovenia","status":"Validated","source":"23114748[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Occasional (29-5%)","criteria":null}]}}