{"orpha":849,"name":"Glanzmann thrombasthenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-849/","orphanet_url":"https://www.orpha.net/en/disease/detail/849","names":{"fr":{"name":"Thrombasthénie de Glanzmann","definition":"Syndrome hémorragique caractérisé par des saignements cutanéo-muqueux spontanés et une réaction exagérée aux traumatismes en raison d'une thrombocytopénie constitutionnelle."},"de":{"name":"Thrombasthenie Glanzmann"},"es":{"name":"Trombastenia de Glanzmann","definition":"La trombastenia de Glanzmann (TG) es un síndrome hemorrágico caracterizado por hemorragia mucocutánea espontánea y una respuesta exagerada a los traumatismos debido a una trombocitopenia constitucional."},"it":{"name":"Tromboastenia di Glanzmann"},"nl":{"name":"Glanzmann-trombasthenie","definition":"Glanzmanntrombasthenie (GT) is een bloedingssyndroom dat gekenmerkt wordt door spontane mucocutane bloeding en een overdreven respons op trauma als gevolg van een constitutionele trombocytopenie."},"pt":{"name":"Trombastenia Glanzmann","definition":"A trombastenia Glanzmann (TG) é uma síndrome hemorrágica caracterizada por hemorragia mucocutânea espontânea e uma resposta exagerada ao trauma devido a uma trombocitopenia constitucional."},"pl":{"name":"Trombastenia Glanzmanna"},"cs":{"name":"Glanzmannova trombastenie"},"uk":{"name":"Тромбастенія Гланцмана","definition":"Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia."},"zh":{"name":"Glanzmann血小板减少症"},"tr":{"name":"Glanzmann trombastenisi"}},"xrefs":[{"source":"OMIM","code":"273800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619267","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3B62.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1927726560"},{"source":"MONDO","code":"0100326","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0040015","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275736,"name":"Rare hemorrhagic disorder due to a qualitative platelet defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"ITGA2B","name":"integrin subunit alpha 2b","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21917754[PMID]","hgnc":"6138","ensembl":"ENSG00000005961","omim":"607759","loci":["17q21.31"]},{"symbol":"ITGB3","name":"integrin subunit beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21917754[PMID]","hgnc":"6156","ensembl":"ENSG00000259207","omim":"173470","loci":["17q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-12","source":"27539755[PMID]_30031712[PMID]_29985398[PMID]_26185478[PMID]_29575615[PMID]_25728920[PMID]","terms":[{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004406","label":"Spontaneous, recurrent epistaxis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030137","label":"Prolonged bleeding following circumcision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0400008","label":"Menometrorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011871","label":"Impaired ristocetin-induced platelet aggregation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004866","label":"Impaired ADP-induced platelet aggregation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011870","label":"Impaired arachidonic acid-induced platelet aggregation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031128","label":"Impaired collagen-related peptide-induced platelet aggregation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008148","label":"Impaired epinephrine-induced platelet aggregation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011872","label":"Impaired thrombin-induced platelet aggregation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011894","label":"Impaired thromboxane A2 agonist-induced platelet aggregation","frequency":"Excluded (0%)","criteria":null}]}}