{"orpha":438207,"name":"Severe autosomal recessive macrothrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438207/","orphanet_url":"https://www.orpha.net/en/disease/detail/438207","names":{"fr":{"name":"Macrothrombocytopénie sévère autosomique récessive","definition":"Maladie héréditaire isolée et rare à plaquettes géantes, caractérisée par une thrombocytopénie et une thrombopathie sévères dues à une altération de la formation des proplaquettes et de l'activation plaquettaire chez les patients homozygotes. Les manifestations cliniques sont des épisodes hémorragiques récurrents, notamment des épistaxis, des hématomes spontanés et des ménorragies."},"de":{"name":"Makrothrombozytopenie, schwere, autosomal-rezessive","definition":"Eine sehr seltene hereditäre Form der Makrothrombozytopenie, die charakterisiert ist durch eine schwere Thrombozytopenie und Thrombopathie aufgrund von Defekten in der Blutplättchenbildung und der Thrombozytenaktivierung. Klinische Manifestationen bei den bisher beschriebenen Patienten sind wiederkehrende Blutungsepisoden einschließlich Epistaxis, spontane Hämatome und Menorrhagien."},"es":{"name":"Macrotrombocitopenia grave autosómica recesiva","definition":"Es un trastorno aislado de plaquetas gigantes, hereditario y poco frecuente, caracterizado por trombocitopenia y trombopatía graves debido a defectos en la formación de las proplaquetas, así como activación plaquetaria en pacientes homocigotos. Clínicamente se manifiesta por episodios hemorrágicos recurrentes que incluyen epistaxis, hematomas espontáneos y menorragia."},"it":{"name":"Macrotrombocitopenia grave autosomica recessiva","definition":"Si tratta di una malattia rara, ereditaria e isolata, con piastrine giganti caratterizzata dalla trombocitopenia grave e dalla trombopatia, secondarie ai difetti nella formazione delle propiastrine e nell'attivazione delle piastrine nei pazienti omozigoti. Clinicamente sono presenti emorragie ricorrenti (epistassi, ematomi spontanei e menorragia)."},"nl":{"name":"Ernstige autosomaal recessieve macrotrombocytopenie","definition":"Een zeldzame, geïsoleerde hereditaire aandoening van reuzentrombocyten, gekarakteriseerd door ernstige trombocytopenie en trombopathie als gevolg van defecten van vorming van protrombocyten en activatie van trombocyten in homozygote patiënten. Klinische manifestaties zijn recidiverende episodes van bloeding waaronder epistaxis, spontane hematomen, en menorragie."},"pt":{"name":"Macrotrombocitopenia autossómica recessiva grave"},"pl":{"name":"Ciężka autosomalna recesywna makrotrombocytopenia"},"cs":{"name":"Těžká autozomálně recesivní makrotrombocytopenie"},"uk":{"name":"Тяжка аутосомно-рецесивна макротромбоцитопенія","definition":"A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia."},"zh":{"name":"严重常染色体隐性遗传性巨血小板减少症","definition":"一种罕见的孤立遗传性巨血小板疾病，纯合患者可出现血小板形成缺陷和血小板活化缺陷，导致严重的血小板减少和血栓形成。临床表现为反复发作的出血，包括鼻出血，自发性血肿和月经过多。"},"tr":{"name":"Ağır otozomal resesif makrotrombositopeni"}},"xrefs":[{"source":"OMIM","code":"616176","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620757","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014518","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569048","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":220452,"name":"Isolated hereditary giant platelet disorder","classifications":[156,194]}],"children":[],"genes":[{"symbol":"PRKACG","name":"protein kinase cAMP-activated catalytic subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25061177[PMID]","hgnc":"9382","ensembl":"ENSG00000165059","omim":"176893","loci":["9q21.11"]},{"symbol":"GNE","name":"glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30171045[PMID]","hgnc":"23657","ensembl":"ENSG00000159921","omim":"603824","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25061177[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25061177[PMID]"}],"phenotypes":null}