{"orpha":274,"name":"Bernard-Soulier syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hemorrhagiparous thrombocytic dystrophy","Giant platelet syndrome"],"definition":"A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-274/","orphanet_url":"https://www.orpha.net/en/disease/detail/274","names":{"fr":{"name":"Syndrome de Bernard-Soulier","synonyms":["Dystrophie thrombocytaire hémorragipare","Syndrome des plaquettes sanguines géantes"],"definition":"Maladie plaquettaire héréditaire rare caractérisée par une tendance aux saignements léger à sévères, une macrothrombocytopénie et une absence d'agglutination plaquettaire induite par la ristocétine."},"de":{"name":"Bernard-Soulier-Syndrom","synonyms":["Riesen-Plättchen-Syndrom","Thrombozytendystrophie, hämorrhagische"],"definition":"Eine seltene, vererbte Thrombozytenstörung, die durch eine leichte bis schwere Blutungsneigung, Makrothrombozytopenie und fehlende Ristocetin-induzierte Thrombozytenagglutination gekennzeichnet ist."},"es":{"name":"Síndrome de Bernard-Soulier","synonyms":["Distrofia trombocítica hemorrágica"],"definition":"Es un trastorno plaquetario hereditario poco frecuente que se caracteriza por una tendencia hemorrágica de leve a grave, macrotrombocitopenia y ausencia de agregación plaquetaria inducida por ristocetina."},"it":{"name":"Sindrome di Bernard-Soulier","synonyms":["Distrofia trombocitica emorragipara","Sindrome delle piastrine giganti"]},"nl":{"name":"Syndroom van Bernard-Soulier","synonyms":["Hemorragiparous trombocytische dystrofie","Megatrombocyten-syndroom","Reuzenbloedplaatjes-syndroom","Reuzentrombocytensyndroom"],"definition":"Een zeldzame erfelijke aandoening van trombocyten, gekenmerkt door milde tot ernstige bloedingsneiging, macrotrombocytopenie en afwezigheid van agglutinatie van bloedplaatjes geïnduceerd door ristocetine."},"pt":{"name":"Síndrome Bernard-Soulier","synonyms":["Distrofia trombocítica hemorragípara","Síndrome plaquetas gigantes"]},"pl":{"name":"Zespół Bernarda i Souliera","synonyms":["Zespół płytek olbrzymich"],"definition":"Rzadkie, dziedziczne zaburzenie funkcji płytek, charakteryzujące się tendencją do łagodnych lub ciężkich krwawień, makrotrombocytopenią i brakiem aglutynacji płytek indukowanej rystocetyną."},"cs":{"name":"Bernardův-Soulierův syndrom","synonyms":["Syndrom obrovských destiček","Bernard-Soulierův syndrom"]},"uk":{"name":"Синдром Бернара-Сульє","synonyms":["Синдром гігантських тромбоцитів","Геморагічна тромбоцитарна дистрофія"],"definition":"A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination."},"zh":{"name":"巨大血小板综合征","synonyms":["出血性血小板营养不良"]},"tr":{"name":"Bernard-Soulier sendromu","synonyms":["Dev trombosit sendromu","Hemoragipar trombositik distrofi"]}},"xrefs":[{"source":"OMIM","code":"153670","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"231200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3B62.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"507309898"},{"source":"MONDO","code":"0009276","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001606","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0005129","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2470","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057473","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":"GP1BA","name":"glycoprotein Ib platelet subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22886561[PMID]","hgnc":"4439","ensembl":"ENSG00000185245","omim":"606672","loci":["17p13.2"]},{"symbol":"GP1BB","name":"glycoprotein Ib platelet subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22886561[PMID]","hgnc":"4440","ensembl":"ENSG00000203618","omim":"138720","loci":["22q11.21"]},{"symbol":"GP9","name":"glycoprotein IX platelet","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22886561[PMID]","hgnc":"4444","ensembl":"ENSG00000169704","omim":"173515","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"17109744[PMID]_24051937[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17109744[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-12","source":"24934643[PMID]_26226975[PMID]_28131619[PMID]_11222377[PMID]_1730088[PMID]","terms":[{"hpo":"HP:0011871","label":"Impaired ristocetin-induced platelet aggregation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011879","label":"Decreased platelet glycoprotein Ib-IX-V","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001902","label":"Giant platelets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040185","label":"Macrothrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004406","label":"Spontaneous, recurrent epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012143","label":"Abnormal megakaryocyte morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002248","label":"Hematemesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008738","label":"Partially duplicated kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}