{"orpha":95159,"name":"Hepatoerythropoietic porphyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HEP"],"definition":"A rare form of hepatic porphyria characterized by bullous photodermatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95159/","orphanet_url":"https://www.orpha.net/en/disease/detail/95159","names":{"fr":{"name":"Porphyrie hépatoérythropoïétique","synonyms":["HEP"],"definition":"Forme rare de porphyrie hépatique caractérisée par une photodermatose bulleuse."},"de":{"name":"Porphyrie, hepatoerythropoetische (HEP)","definition":"Eine seltene Form der hepatischen Porphyrie, die durch bullöse Photodermatose gekennzeichnet ist."},"es":{"name":"Porfiria hepatoeritropoyética","synonyms":["HEP"],"definition":"Es una forma poco frecuente de porfiria hepática caracterizada por fotodermatosis ampollosa."},"it":{"name":"Porfiria epato-eritropoietica","synonyms":["HEP"]},"nl":{"name":"Hepato-erytropoëtische porfyrie","synonyms":["HEP"],"definition":"Een zeldzame vorm van hepatische porfyrie gekenmerkt door bulleuze fotodermatose."},"pt":{"name":"Porfiria hepatoeritropoética","definition":"Uma forma rara de porfiria hepática caracterizada por fotodermatose bolhosa."},"pl":{"name":"Porfiria hepatoerytropoetyczna","synonyms":["HEP"]},"cs":{"name":"Hepatoerytropoetická porfyrie","synonyms":["HEP"]},"uk":{"name":"Гепатоеритропоетична порфірія","synonyms":["HEP"],"definition":"A rare form of hepatic porphyria characterized by bullous photodermatosis."},"zh":{"name":"肝性红细胞生成性卟啉病","synonyms":["HEP"],"definition":"肝性红细胞生成性卟啉病（HEP）是一种非常罕见的慢性肝卟啉病（见该词条），其特征是大疱性光照性皮炎。"},"tr":{"name":"Hepatoeritropoetik porfiri","synonyms":["HEP"]}},"xrefs":[{"source":"OMIM","code":"176100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"214080046"},{"source":"MONDO","code":"0019799","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017121","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162569","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6169","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]}],"children":[],"genes":[{"symbol":"UROD","name":"uroporphyrinogen decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24175354[PMID]_21668429[PMID]_17240319[PMID]","hgnc":"12591","ensembl":"ENSG00000126088","omim":"613521","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-17","source":"24175354[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007537","label":"Severe photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010472","label":"Abnormal circulating porphyrin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030756","label":"Erythrodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032999","label":"Increased fecal porphyrin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040322","label":"Purple urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040318","label":"Red urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040320","label":"Red-brown urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001560","label":"Abnormality of the amniotic fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012132","label":"Erythroid hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002219","label":"Facial hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001096","label":"Keratoconjunctivitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100532","label":"Scleritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0500046","label":"Seborrhoeic blepharitis","frequency":"Very rare (<4-1%)","criteria":null}]}}