{"orpha":851,"name":"Paris-Trousseau thrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-851/","orphanet_url":"https://www.orpha.net/en/disease/detail/851","names":{"fr":{"name":"Thrombocytopénie type Paris-Trousseau","definition":"Syndrome des gènes contigus caractérisé par une légère tendance aux saignements, une thrombocytopénie variable, une dysmorphie faciale, la présence anormale des granules plaquettaires alpha géants et une dysmégacaryopoïèse."},"de":{"name":"Paris-Trousseau-Syndrom"},"es":{"name":"Trombocitopenia de Paris-Trousseau","definition":"Es un síndrome de genes contiguos caracterizado por una leve tendencia al sangrado, trombocitopenia variable, facies dismórfica, gránulos alfa plaquetarios gigantes y anómalos y dismegacariopoyesis."},"it":{"name":"Trombocitopenia di Paris-Trousseau"},"nl":{"name":"Trombocytopenie, Paris-Trousseau-type","definition":"Paris-Trousseautrombocytopenie (TCPT) is een ''contiguous gene''-syndroom dat gekenmerkt wordt door milde neiging tot bloeding, variabele trombocytopenie (THC), dysmorf aangezict, abnormale reusachtige alfa-granules in bloedplaatjes en dysmegakaryopoëse."},"pt":{"name":"Trombopenia de Paris-Trousseau"},"pl":{"name":"Trombocytopenia Paris i Trousseau"},"cs":{"name":"Parisův-Trousseauův typ trombocytopenie","synonyms":["Paris-Trousseauův typ trombocytopenie"]},"uk":{"name":"Тромбоцитопенія Париса-Труссо","definition":"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis."},"zh":{"name":"Paris-Trousseau血小板减少症"},"tr":{"name":"Paris-Trousseau trombositopeni"}},"xrefs":[{"source":"OMIM","code":"188025","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617443","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1441183910"},{"source":"MONDO","code":"0008557","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1956093","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4224","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98455,"name":"Alpha granule disease","classifications":[156,194]},{"orpha":262092,"name":"Partial deletion of the long arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"FLI1","name":"Fli-1 proto-oncogene, ETS transcription factor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"7703487[PMID]_22775407[PMID]","hgnc":"3749","ensembl":"ENSG00000151702","omim":"193067","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null}]}}