{"orpha":280379,"name":"Erythropoietic uroporphyria associated with myeloid malignancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280379/","orphanet_url":"https://www.orpha.net/en/disease/detail/280379","names":{"fr":{"name":"Uroporphyrie érythropoïétique associée à une tumeur maligne myéloïde","definition":"Porphyrie rare caractérisée par une tumeur maligne myéloïde pré-existante, une fragilité cutanée, ainsi que par la formation de vésicules sur les zones exposées et de bulles hémorragiques généralement sur le dos des mains. Des taux élevés de porphyrines sont retrouvés dans les urines, le plasma et les selles."},"de":{"name":"Uroporphyrie, erythropoetische, mit assoziierter myeloischer Neoplasie"},"es":{"name":"Uroporfiria eritropoyética asociada a neoplasias mieloides","definition":"Es una porfiria poco frecuente caracterizada por un trastorno mieloide preexistente, fragilidad cutánea y ampollas en las áreas expuestas, y bullas hemorrágicas, por lo general, en el dorso de las manos. Los niveles de porfirinas en orina, plasma y heces están incrementados."},"it":{"name":"Uroporfiria eritropoietica associata al tumore mieloide maligno","definition":"È una porfiria rara caratterizzata da una precedente malattia mieloide, fragilità della cute, vesciche sulle aree esposte e bolle emorragiche di solito localizzate sul dorso delle mani. Sono aumentati i livelli delle porfirine nelle urine, nelle feci e nel plasma."},"nl":{"name":"Erytropoëtische uroporfyrie geassocieerd met myeloïde maligniteiten","definition":"Een zeldzame porfyrie die gekarakteriseerd wordt door een reeds aanwezige myeloïde stoornis, broosheid van de huid en blaarvorming op blootgestelde gebieden, en hemorragische blazen doorgaans op de rug van de handen. De hoeveelheid porfyrinen in urine, plasma en uitwerpselen is verhoogd."},"pt":{"name":"Uroporfiria eritropoiética associada a malignidade mielóide"},"pl":{"name":"Uroporfiria erytropoetyczna związana z nowotworem złośliwym szpiku"},"cs":{"name":"Erytropoetická uroporfyrie asociovaná s myeloidními malignitami"},"uk":{"name":"Еритропоетична уропорфірія, асоційована зі злоякісними мієлоїдними пухлинами","definition":"A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased."},"zh":{"name":"与髓系恶性肿瘤相关的红细胞生成性尿卟啉症","definition":"红细胞生成性尿卟啉病伴骨髓恶性肿瘤是一种罕见的卟啉症，其特征是预存髓系病变，脆性皮肤，暴露区起疱，尤其是手背血疱。尿、血浆和粪便卟啉含量增加。"},"tr":{"name":"Miyeloid malignite ilişkili eritropoietik üroporfiri"}},"xrefs":[{"source":"ICD-10","code":"E80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB90.3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017231","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191004","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10948","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":659681,"name":"Erythropoietic porphyria","classifications":[150,156,187,188]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}