{"orpha":447,"name":"Paroxysmal nocturnal hemoglobinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Marchiafava-Micheli disease","PNH"],"definition":"Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447/","orphanet_url":"https://www.orpha.net/en/disease/detail/447","names":{"fr":{"name":"Hémoglobinurie paroxystique nocturne","synonyms":["HPN","Maladie de Marchiafava-Micheli"],"definition":"L'hémoglobinurie paroxystique nocturne (HPN) est une maladie clonale acquise des cellules souches hématopoïétiques caractérisée par une anémie hémolytique corpusculaire, une aplasie médullaire et par la survenue fréquente de thromboses."},"de":{"name":"Hämoglobinurie, nächtliche paroxysmale","synonyms":["Marchiafava-Micheli-Anämie","PNH"],"definition":"Die paroxysmale nächtliche Hämoglobinurie (PNH) ist eine erworbene klonale hämatopoetische Stammzellerkrankung, die durch korpuskuläre hämolytische Anämie, Knochenmarkversagen und häufige thrombotische Ereignisse gekennzeichnet ist."},"es":{"name":"Hemoglobinuria paroxística nocturna","synonyms":["Enfermedad de Marchiafava-Micheli"],"definition":"Es una enfermedad clonal adquirida de los progenitores hematopoyéticos que se caracteriza por anemia hemolítica corpuscular, insuficiencia mediular y eventos trombóticos frecuentes."},"it":{"name":"Emoglobinuria parossistica notturna","synonyms":["EPN","Malattia di Marchiafava-Micheli"],"definition":"L'emoglobinuria parossistica notturna (PNH) è una malattia acquisita delle cellule staminali ematopoietiche clonali, caratterizzata da anemia emolitica corpuscolare, insufficienza del midollo osseo e frequenti eventi trombotici."},"nl":{"name":"Paroxysmale nachtelijke hemoglobinurie","synonyms":["PNH","Ziekte van Marchiafava-Micheli"],"definition":"Paroxysmale nachtelijke hemoglobinurie (PNH) is een verworven klonale hematopoëtische stamcelstoornis die gekarakteriseerd wordt door corpusculaire hemolytische anemie, beenmergfalen en frequente trombotische incidenten."},"pt":{"name":"Hemoglobinúria paroxística noturna","synonyms":["Doença de Marchiafava-Micheli"]},"pl":{"name":"Nocna napadowa hemoglobinuria","synonyms":["Choroba Marchiafava i Micheli","PNH"],"definition":"Napadowa nocna hemoglobinuria (PNH) jest nabytą klonalną chorobą krwiotwórczych komórek macierzystych. Charakteryzuje się niedokrwistością hemolityczną wskutek zwiększonej utraty krwinek czerwonych, niewydolnością szpiku kostnego i częstymi zdarzeniami zakrzepowymi."},"cs":{"name":"Paroxysmální noční hemoglobinurie","synonyms":["PNH","Marchiafavův-Micheliův syndrom","Marchiafa-Micheliův syndrom"]},"uk":{"name":"Пароксизмальна нічна гемоглобінурія","synonyms":["Хвороба Маркіафава-Мікелі","PNH"],"definition":"Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events."},"zh":{"name":"阵发性睡眠性血红蛋白尿症","synonyms":["Marchiafava-Micheli病"]},"tr":{"name":"Paroksismal noktürnal hemoglobinüri","synonyms":["PNH","Marchiafava-Micheli hastalığı"]}},"xrefs":[{"source":"OMIM","code":"300818","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615399","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D59.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A21.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"859588467"},{"source":"MONDO","code":"0100244","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024790","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7337","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10034042","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":164823,"name":"Rare acquired aplastic anemia","classifications":[194,233]},{"orpha":182047,"name":"Rare acquired hemolytic anemia","classifications":[194]},{"orpha":158300,"name":"Rare genetic hematologic disease","classifications":[156]}],"children":[],"genes":[{"symbol":"PIGA","name":"phosphatidylinositol glycan anchor biosynthesis class A","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22305531[PMID]","hgnc":"8957","ensembl":"ENSG00000165195","omim":"311770","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"United Kingdom","status":"Validated","source":"34060690[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.81,"area":"United Kingdom","status":"Validated","source":"34060690[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2016[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-27","source":"29486674[PMID]_27913482[PMID]_29246924[PMID]","terms":[{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003641","label":"Hemoglobinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032106","label":"Conjunctival icterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040303","label":"Decreased serum iron","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032147","label":"Erythromelalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012543","label":"Hemosiderinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003138","label":"Increased blood urea nitrogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020181","label":"Reduced haptoglobin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002639","label":"Budd-Chiari syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012132","label":"Erythroid hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030248","label":"Mesenteric venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032043","label":"Odynophagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025271","label":"Esophageal spasms","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Very rare (<4-1%)","criteria":null}]}}