{"orpha":90035,"name":"Paroxysmal cold hemoglobinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Donath-Landsteiner hemolytic anemia","Donath-Landsteiner syndrome","PCH"],"definition":"Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90035/","orphanet_url":"https://www.orpha.net/en/disease/detail/90035","names":{"fr":{"name":"Hémoglobinurie paroxystique a frigore","synonyms":["Anémie hémolytique de Donath-Landsteiner","Hémoglobinurie paroxystique induite par le froid","PCH","Syndrome de Donath-Landsteiner"],"definition":"L'hémoglobinurie paroxystique à frigore (HPF) est un sous-type très rare d'anémie hémolytique auto-immune (AHAI) ; elle est due à la présence dans le sang d'auto-anticorps froids et se manifeste par une hémoglobinurie soudaine, survenant typiquement après une exposition au froid."},"de":{"name":"Paroxysmale Kältehämoglobinurie","synonyms":["Donath-Landsteiner-Syndrom","PCH","Donath-Landsteiner hämolytische Anämie"],"definition":"Die Paroxysmale Kältehämoglobinurie (PCH) ist ein sehr seltener Untertyp der Autoimmun-hämolytischen Anämie (AIHA; s. dort), verursacht durch die Anwesenheit von kälte-reagierenden Autoantikörpern im Blut. Die Krankheit ist gekennzeichnet durch plötzlich auftretende Hämoglobinurie, in typischen Fällen nach Exposition mit kalten Temperaturen."},"es":{"name":"Hemoglobinuria paroxística por frío","synonyms":["Anemia hemolítica de Donath-Landsteiner","Síndrome de Donath-Landsteiner"],"definition":"La hemoglobinuria paroxística por frío (PCH) es un tipo muy raro de anemia hemolítica autoinmune (AIHA, consulte este término), causada por la presencia en sangre de autoanticuerpos activados por frío y caracterizada por la presencia repentina de hemoglobinuria, normalmente tras una exposición a temperaturas bajas."},"it":{"name":"Emoglobinuria parossistica a frigore","synonyms":["Anemia emolitica di Donath-Landsteiner","PCH","Sindrome di Donath-Landsteiner"]},"nl":{"name":"Paroxysmale koude hemoglobinurie","synonyms":["Hemolytische anemie van Donath-Landsteiner","PCH","Syndroom van Donath-Landsteiner"],"definition":"Paroxysmale koude hemoglobinurie (PCH) is een zeer zeldzaam subtype van auto-immune hemolytische anemie (AIHA), veroorzaakt door de aanwezigheid van koudegevoelige auto-antilichamen in bloed, en gekenmerkt door de plotse aanwezigheid van hemoglobinurie, doorgaans na blootstelling aan koude temperaturen."},"pt":{"name":"Hemoglobinúria paroxística pelo frio","definition":"A hemoglobinúria paroxística do frio (PCH) é um subtipo muito raro de anemia hemolítica auto-imune (AIHA, ver este termo), causada pela presença de auto-anticorpos reactivos ao frio no sangue e caracteriza-se pela presença súbita de hemoglobinúria, geralmente após a exposição a temperaturas frias."},"pl":{"name":"Napadowa zimna hemoglobinuria","synonyms":["Niedokrwistość hemolityczna Donatha i Landsteinera","PCH","Zespół Donatha i Landsteinera"]},"cs":{"name":"Paroxysmální chladová hemoglobinurie","synonyms":["Donathova-Landsteinerova hemolytická anémie","PCH","Donathův-Landsteinerův syndrom","Donath-Landsteinerův syndrom"]},"uk":{"name":"Пароксизмальна холодова гемоглобінурія","synonyms":["Гемолітична анемія Доната-Ландштейнера","Синдром Доната-Ландштейнера","PCH"],"definition":"Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures."},"zh":{"name":"阵发性冷性血红蛋白尿","synonyms":["Donath-Landsteiner血红蛋白尿"]},"tr":{"name":"Paroksismal soğuk hemoglobinüri","synonyms":["PCH","Donath-Landsteiner sendromu","Donath-Landsteiner hemolitik anemi"]}},"xrefs":[{"source":"ICD-10","code":"D59.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A20.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"715111132"},{"source":"MONDO","code":"0019533","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086774","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7335","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":228312,"name":"Autoimmune hemolytic anemia, cold type","classifications":[194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012086","label":"Abnormal urinary color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004844","label":"Coombs-positive hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003641","label":"Hemoglobinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}