{"orpha":140957,"name":"Autosomal dominant macrothrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140957/","orphanet_url":"https://www.orpha.net/en/disease/detail/140957","names":{"fr":{"name":"Macrothrombocytopénie autosomique dominante","definition":"Thrombocytopénie constitutionnelle isolée rare, caractérisée par une taille anormale de plaquettes."},"de":{"name":"Makrothrombozytopenie, autosomal-dominante"},"es":{"name":"Macrotrombocitopenia autosómica dominante","definition":"Este síndrome se caracteriza por una trombocitopenia asociada a la presencia de plaquetas grandes."},"it":{"name":"Macrotrombocitopenia autosomica dominante"},"nl":{"name":"Autosomaal dominante macrotrombocytopenie","definition":"Dit syndroom wordt gekenmerkt door congenitale trombocytopenie geassocieerd met de aanwezigheid van grote bloedplaatjes."},"pt":{"name":"Macrotrombocitopenia autossómica dominante","definition":"Esta síndrome é caracterizada por trombocitopenia associada com a presença de plaquetas grandes."},"pl":{"name":"Autosomalna dominująca makrotrombocytopenia"},"cs":{"name":"Autozomálně dominantní makrotrombocytopenie"},"uk":{"name":"Аутосомно-домінантна макротромбоцитопенія","definition":"A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets."},"zh":{"name":"常染色体显性遗传巨血小板减少症","definition":"该综合征的特征是先天性血小板减少症伴巨大血小板。"},"tr":{"name":"Otozomal dominant makrotrombositopeni"}},"xrefs":[{"source":"OMIM","code":"187800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613112","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615193","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619271","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619840","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620486","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":"0015372","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304021","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":"TPM4","name":"tropomyosin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28134622[PMID]","hgnc":"12013","ensembl":"ENSG00000167460","omim":"600317","loci":["19p13.12-p13.11"]},{"symbol":"ACTN1","name":"actinin alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23434115[PMID]","hgnc":"163","ensembl":"ENSG00000072110","omim":"102575","loci":["14q24.1"]},{"symbol":"GFI1B","name":"growth factor independent 1B transcriptional repressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23927492[PMID]","hgnc":"4238","ensembl":"ENSG00000165702","omim":"604383","loci":["9q34.13"]},{"symbol":"GP1BA","name":"glycoprotein Ib platelet subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21933849[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":"28064200[PMID]","hgnc":"4440","ensembl":"ENSG00000203618","omim":"138720","loci":["22q11.21"]},{"symbol":"ITGA2B","name":"integrin subunit alpha 2b","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21454453[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":"18065693[PMID]_19336737[PMID]","hgnc":"6156","ensembl":"ENSG00000259207","omim":"173470","loci":["17q21.32"]},{"symbol":"TRPM7","name":"transient receptor potential cation channel subfamily M member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27020697[PMID]","hgnc":"17994","ensembl":"ENSG00000092439","omim":"605692","loci":["15q21.2"]},{"symbol":"TUBA8","name":"tubulin alpha 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34704371[PMID]","hgnc":"12410","ensembl":"ENSG00000183785","omim":"605742","loci":["22q11.21"]},{"symbol":"TUBB1","name":"tubulin beta 1 class VI","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18849486[PMID]","hgnc":"16257","ensembl":"ENSG00000101162","omim":"612901","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"18065693[PMID]_18849486[PMID]_24069336[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-11-20","source":"33813986[PMID]_33276370[PMID]","terms":[{"hpo":"HP:0011877","label":"Increased mean platelet volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040185","label":"Macrothrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032438","label":"Platelet anisocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100608","label":"Metrorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Occasional (29-5%)","criteria":null}]}}