{"orpha":464453,"name":"Acquired methemoglobinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Drug-induced methemoglobinemia"],"definition":"A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464453/","orphanet_url":"https://www.orpha.net/en/disease/detail/464453","names":{"fr":{"name":"Méthémoglobinémie acquise","synonyms":["Méthémoglobinémie induite par les médicaments"],"definition":"Maladie hématologique rare caractérisée par une augmentation du taux de méthémoglobine dans le sang causée par l'exposition à des agents oxydants tels que des nitrates ou des nitrites, ainsi qu'à divers médicaments (plus généralement des anesthésiques locaux) ou à des colorants d'anilines, entre autres. Les signes cliniques incluent la cyanose, les vertiges, les maux de tête, la dyspnée, la confusion et le coma. En fonction du taux de méthémoglobine, la sévérité des symptômes oscille entre une forme légère et une forme engageant le pronostic vital."},"de":{"name":"Methämoglobinämie, erworbene","synonyms":["Methämoglobinämie, Medikamenten-induzierte"],"definition":"Eine seltene hämatologische Erkrankung, die durch einen erhöhten Methämoglobinspiegel im Blut gekennzeichnet ist, der u. a. auf die Einwirkung von Oxidationsmitteln wie Nitraten oder Nitriten, einer Reihe von Arzneimitteln (am häufigsten Lokalanästhetika) oder Anilinfarbstoffen zurückzuführen ist. Zu den klinischen Symptomen gehören Zyanose, Schwindel, Kopfschmerzen, Atemnot, Verwirrtheit und Koma. Der Schweregrad der Symptome reicht je nach Methämoglobinspiegel von leicht bis lebensbedrohlich."},"es":{"name":"Metahemoglobinemia adquirida","synonyms":["Metahemoglobinemia inducida por fármacos"],"definition":"Es una enfermedad hematológica poco frecuente caracterizada por unos niveles elevados de metahemoglobina en sangre debido a la exposición a agentes oxidantes tales como los nitratos o nitritos, diferentes fármacos (principalmente los anestésicos locales) o los tintes de anilina, entre otros. Las manifestaciones clínicas incluyen cianosis, mareos, cefalea, disnea, confusión y coma. La gravedad de los síntomas varía desde formas leves hasta situaciones potencialmente mortales, dependiendo del porcentaje de metahemoglobina."},"it":{"name":"Metaemoglobinemia acquisita","definition":"Si tratta di una malattia ematologica rara, caratterizzata da livelli elevati di metaemoglobina nel sangue, secondari all'esposizione ad agenti ossidanti come i nitrati e i nitriti, a diversi farmaci (soprattutto gli anestetici locali) e ai coloranti a base di anilina. I segni clinici comprendono la cianosi, le vertigini, la cefalea, la dispnea, la confusione e il coma. I sintomi possono variare tra quelli lievi fino a quelli potenzialmente letali, a seconda della percentuale di metaemoglobina."},"nl":{"name":"Verworven methemoglobinemie","synonyms":["Medicatiegeïnduceerde methemoglobinemie"],"definition":"Een zeldzame hematologische ziekte, gekarakteriseerd door verhoogde gehaltes van methemoglobine in bloed als gevolg van blootstelling aan oxiderende agentia zoals onder meer nitraten of nitrieten, een verscheidenheid aan medicatie (doorgaans locale anesthetica), of anilinekleurstoffen. Klinische manifestaties zijn onder meer cyanose, duizeligheid, hoofdpijn, dyspneu, verwardheid, en coma. De ernst van symptomen gaat van mild tot levensbedreigend, afhankelijk van het percentage methemoglobine."},"pt":{"name":"Metahemoglobina adquirida"},"pl":{"name":"Methemoglobinemia nabyta","synonyms":["Methemoglobinemia indukowana lekami"]},"cs":{"name":"Získaná methemoglobinémie","synonyms":["Drug-induced methemoglobinemia","Methemoglobinémie vyvolaná léky"]},"uk":{"name":"Набута метгемоглобінемія","synonyms":["Медикаментозна метгемоглобінемія"],"definition":"A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin."},"zh":{"name":"获得性高铁血红蛋白血症","synonyms":["药物诱导的高铁血红蛋白血症"],"definition":"一种罕见的血液病，其特点是由于接触硝酸盐或亚硝酸盐等氧化剂、各种药物（最常见的是局部麻醉剂）或苯胺染料等导致血液中的甲胎蛋白水平升高。临床表现包括发绀、头晕、头痛、呼吸困难、神志不清和昏迷。症状的严重程度从轻度到危及生命，取决于高铁血红蛋白的百分比。"},"tr":{"name":"Edinsel methemoglobinemi","synonyms":["İlaç-ilişkili methemoglobinemi"]}},"xrefs":[{"source":"ICD-10","code":"D74.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A93","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"746336827"},{"source":"MONDO","code":"0018740","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":707993,"name":"Methemoglobinemia-related cyanosis","classifications":[194]},{"orpha":306640,"name":"Rare intoxication due to medical products","classifications":[204]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":242.0,"area":"Worldwide","status":"Validated","source":"15342970[PMID]_19224791[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15342970[PMID]_19224791[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-13","source":"25637615[PMID]_27412886[PMID]_28667718[PMID]","terms":[{"hpo":"HP:0012119","label":"Methemoglobinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}