{"orpha":79277,"name":"Congenital erythropoietic porphyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CEP","Günther disease"],"definition":"A rare erythropoietic porphyria characterized by a non-photoalgesic, polymorphic, mutilating and very severe photodermatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79277/","orphanet_url":"https://www.orpha.net/en/disease/detail/79277","names":{"fr":{"name":"Porphyrie érythropoïétique congénitale","synonyms":["CEP","Maladie de Günther"],"definition":"Une porphyrie érythropoïétique rare caractérisée par une photodermatose non photoalgique, polymorphe, mutilante et très sévère."},"de":{"name":"Porphyrie, erythropoetische kongenitale","synonyms":["CEP","Günther-Krankheit"],"definition":"Eine seltene erythropoetische Porphyrie, die durch eine polymorphe, mutilierende und sehr schwere Photodermatose gekennzeichnet ist."},"es":{"name":"Porfiria eritropoyética congénita","synonyms":["CEP","Enfermedad de Günther"],"definition":"Es una porfiria eritropoyética poco frecuente caracterizada por fotodermatosis no fotoalgésica, polimórfica y mutilante muy grave."},"it":{"name":"Porfiria eritropoietica congenita","synonyms":["CEP","Malattia di Günther"]},"nl":{"name":"Congenitale erytropoëtische porfyrie","synonyms":["CEP","Ziekte van Günther"],"definition":"Een zeldzame erytropoëtische porfyrie, gekenmerkt door een polymorfe, mutilerende en zeer ernstige fotodermatose zonder door licht geïnduceerde pijn."},"pt":{"name":"Porfiria eritropoiética congénita","definition":"Porfiria eritropoiética rara caracterizada por fotodermatose não fotoalgésica, polimórfica, mutilante e muito grave."},"pl":{"name":"Wrodzona porfiria erytropoetyczna","synonyms":["CEP","Choroba Günthera"]},"cs":{"name":"Vrozená erytropoetická porfyrie","synonyms":["CEP","Güntherova choroba"]},"uk":{"name":"Вроджена еритропоетична порфірія","synonyms":["CEP","Хвороба Гюнтера"],"definition":"A rare erythropoietic porphyria characterized by a non-photoalgesic, polymorphic, mutilating and very severe photodermatosis."},"zh":{"name":"先天性红细胞生成性卟啉病","synonyms":["Günther病"]},"tr":{"name":"Doğumsal eritropoietik porfiri","synonyms":["CEP","Günther hastalığı"]}},"xrefs":[{"source":"OMIM","code":"263700","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":"1935084712"},{"source":"MONDO","code":"9902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5886774","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4446","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":"UROS","name":"uroporphyrinogen III synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24027798[PMID]","hgnc":"12592","ensembl":"ENSG00000188690","omim":"606938","loci":["10q26.2"]},{"symbol":"GATA1","name":"GATA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24027798[PMID]_17148589[PMID]","hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.065,"area":"Europe","status":"Not yet validated","source":"23114748[PMID]"},{"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":"2021-05-14","source":"28329491[PMID]_24027798[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010472","label":"Abnormal circulating porphyrin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012187","label":"Increased erythrocyte protoporphyrin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500115","label":"Increased stool urobilinogen concentration","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:0007537","label":"Severe photosensitivity","frequency":"Very frequent (99-80%)","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:0033009","label":"Increased fecal coproporphyrin 1","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: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:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","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:0011273","label":"Anisocytosis","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:0009025","label":"Increased connective tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","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:0004447","label":"Poikilocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020181","label":"Reduced haptoglobin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","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:0001873","label":"Thrombocytopenia","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:0008069","label":"Neoplasm of the skin","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},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}