{"orpha":2330,"name":"Kasabach-Merritt phenomenon","type":"Particular clinical situation in a disease or syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Haemangioma-thrombocytopenia syndrome","Hemangioma-thrombocytopenia syndrome"],"definition":"A rare hemorrhagic disorder characterized by potentially life-threatening thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy in the context of kaposiform hemangioendothelioma or tufted angioma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2330/","orphanet_url":"https://www.orpha.net/en/disease/detail/2330","names":{"fr":{"name":"Phénomène de Kasabach-Merritt","synonyms":["Syndrome d'hémangiome-thrombocytopénie"],"definition":"Maladie hématologique rare caractérisée par une thrombocytopénie potentiellement létale, une anémie hémolytique microangiopathique et une coagulopathie de consommation dans un contexte d'hémangioendothéliome kaposiforme ou d'angiome en touffes."},"de":{"name":"Kasabach-Merritt-Phänomen","synonyms":["Kasabach-Merritt-Syndrom","Hämangiom-Thrombozytopenie-Syndrom"],"definition":"Eine seltene hämorrhagische Erkrankung, die durch eine potenziell lebensbedrohliche Thrombozytopenie, eine mikroangiopathische hämolytische Anämie und eine verbrauchende Koagulopathie im Zusammenhang mit einem kaposiformen Hämangioendotheliom oder Büschelangiom gekennzeichnet ist."},"es":{"name":"Fenómeno de Kasabach-Merritt","synonyms":["Síndrome de hemangioma-trombocitopenia"],"definition":"Es un trastorno hemorrágico poco frecuente caracterizado por trombocitopenia potencialmente mortal, anemia hemolítica microangiopática y coagulopatía por consumo en el contexto de un hemangioendotelioma kaposiforme o de un angioma en penacho."},"it":{"name":"Fenomeno di Kasabach-Merritt","synonyms":["Sindrome emangioma-trombocitopenia"],"definition":"La sindrome di Kasabach-Merritt (KMS), nota anche come sindrome emangioma-trombocitopenia, è una malattia rara caratterizzata da trombocitopenia grave, anemia emolitica microangiopatica con coagulopatia da consumo secondaria, associate a tumori vascolari (in particolare emangioendotelioma kaposiforme o angioma a ciuffi)."},"nl":{"name":"Fenomeen van Kasabach-Merritt","synonyms":["Hemangioom - trombocytopenie-syndroom"],"definition":"Een zeldzame hemorragische aandoening, gekenmerkt door potentieel levensbedreigende trombocytopenie, microangiopathische hemolytische anemie, en consumptieve coagulopathie in de context van kaposiform hemangio-endothelioom of 'tufted' angioom."},"pt":{"name":"Fenómeno Kasabach-Merritt","synonyms":["Síndrome de hemangioma-trombocitopenia"],"definition":"Distúrbio hemorrágico raro caracterizado por trombocitopenia potencialmente fatal, anemia hemolítica microangiopática e coagulopatia de consumo no contexto de hemangioendotelioma kaposiforme ou angioma em tufos."},"pl":{"name":"Zespół Kasabacha i Merritta","synonyms":["Zespół hemangioma-trombocytopenia"],"definition":"Rzadka choroba krwotoczna charakteryzująca się potencjalnie zagrażającą życiu trombocytopenią, mikroangiopatyczną niedokrwistością hemolityczną i koagulopatią ze zużycia w kontekście naczyniaka z komórek śródbłonkowych o typie Kaposiego lub naczyniaka kępkowego."},"cs":{"name":"Kasabachův-Merittové syndrom","synonyms":["Syndrom zahrnující hemangiom a trombocytopenii","Kasabach-Merittové syndrom"]},"uk":{"name":"Феномен Касабаха-Мерріта","synonyms":["Синдром гемангіоми-тромбоцитопенії"],"definition":"A rare hemorrhagic disorder characterized by potentially life-threatening thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy in the context of kaposiform hemangioendothelioma or tufted angioma."},"zh":{"name":"卡梅综合征","synonyms":["血管瘤-血小板减少综合征"]},"tr":{"name":"Kasabach-Merritt sendromu","synonyms":["Hemanjiyom-trombositopeni sendromu"]}},"xrefs":[{"source":"OMIM","code":"141000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KA8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2059601885"},{"source":"MONDO","code":"0007708","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D059885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221025","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"70","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058423","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":717582,"name":"Coagulation abnormality associated with a vascular anomaly","classifications":[147,198]},{"orpha":248308,"name":"Rare hemorrhagic disorder","classifications":[194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"ISBN-10: 0071354557[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN-10: 0071354557[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-15","source":"30085595[PMID]_28767598[PMID]_30096317[PMID]_9108863[PMID]_3588149[PMID]_3108848[PMID]_6660888[PMID]_5950934[PMID]","terms":[{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012329","label":"Tufted angioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100766","label":"Abnormal lymphatic vessel morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005520","label":"Chronic disseminated intravascular coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031207","label":"Hepatic hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040213","label":"Hypopnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Very rare (<4-1%)","criteria":null}]}}