{"orpha":721,"name":"Gray platelet syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha storage pool deficiency","GPS","Platelet alpha-granule deficiency"],"definition":"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-721/","orphanet_url":"https://www.orpha.net/en/disease/detail/721","names":{"fr":{"name":"Syndrome des plaquettes grises","synonyms":["GPS"],"definition":"Le syndrome des plaquettes grises (SPG) est une maladie hémorragique congénitale rare associant macrothrombocytopénie, myélofibrose, splénomégalie; les plaquettes ont un aspect gris caractéristique au frottis sanguin par coloration de Wright."},"de":{"name":"Gray-platelet-Syndrom","synonyms":["Alpha-Granula-Mangel der Plättchen","Alpha-Storage-Pool-Krankheit","Alpha-Thrombozytengranula-Mangel","GPS","Graue Thrombozyten-Syndrom"],"definition":"Das 'Graue Thrombozyten'-Syndrom (GPS) ist eine seltene erbliche Blutungsneigung mit Makrothrombozytopenie, Myelofibrose, Splenomegalie und einem typisch grauen Aussehen der Thrombozyten im nach Wright / May-Grünwald-Giemsa gefärbten peripheren Blutausstrich."},"es":{"name":"Síndrome de plaquetas grises","synonyms":["Deficiencia de almacenamiento del pool de gránulos alfa","Deficiencia de gránulos alfa plaquetarios","GPS","Sindrome plaquetario gris"],"definition":"El síndrome de plaquetas grises (SPG) es un trastorno hereditario raro de la coagulación, caracterizado por macrotrombocitopenia, mielofibrosis, esplenomegalia y apariencia típicamente gris de las plaquetas en frotis de sangre periférica con la tinción de Wright."},"it":{"name":"Sindrome delle piastrine grigie","synonyms":["Deficit dei granuli alfa delle piastrine","Deficit del pool di riserva dei granuli alfa","GPS"],"definition":"La sindrome delle piastrine grigie (SPG) è una malattia congenita rara della coagulazione, con macrotrombocitopenia, mielofibrosi, splenomegalia e peculiare aspetto grigio delle piastrine sugli strisci di sangue periferico colorati con il metodo di Wright."},"nl":{"name":"Grijze bloedplaatjes-syndroom","synonyms":["Alfa-storage-pooldeficiëntie","Deficiëntie van alfa-granulen in bloedplaatjes","GPS"],"definition":"Een zeldzame erfelijke stollingsstoornis, gekenmerkt door macrotrombocytopenie, myelofibrose, splenomegalie, en typische grijs uitziende trombocyten in perifere bloeduitstrijkjes gekleurd volgens de Wright-methode."},"pt":{"name":"Síndrome de plaquetas cinzentas","definition":"A síndrome das plaquetas cinzentas (GPS) é uma patologia hemorrágica hereditária rara caracterizada por macrotrombocitopenia, mielofibrose, esplenomegalia e aparência cinzenta típica das plaquetas no esfregaço de sangue periférico corado com Wright."},"pl":{"name":"Zespół szarych płytek","synonyms":["GPS","Niedobór puli magazynowej alfa","Niedobór ziarnistości alfa w płytkach krwi","Zespół szarych płytek"]},"cs":{"name":"Syndrom šedých destiček","synonyms":["GPS","Deficit alfa střádavých granul","Deficit destičkových alfa-granul"]},"uk":{"name":"Синдром сірих тромбоцитів","synonyms":["Дефіцит пулу зберігання даних Alpha","GPS","Дефіцит альфа-гранул тромбоцитів"],"definition":"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear."},"zh":{"name":"灰色血小板综合征","synonyms":["α血小板-颗粒缺乏症"]},"tr":{"name":"Gri trombosit sendromu","synonyms":["GPS","Alfa depolama havuzu eksikliği","Trombosit alfa granül eksikliği"]}},"xrefs":[{"source":"OMIM","code":"139090","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"187900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3B62.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1818085572"},{"source":"MONDO","code":"0007686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272302","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2562","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]}],"children":[],"genes":[{"symbol":"NBEAL2","name":"neurobeachin like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21765411[PMID]_21765412[PMID]","hgnc":"31928","ensembl":"ENSG00000160796","omim":"614169","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2017-08-02","source":null,"terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}