{"orpha":182050,"name":"MYH9-related syndromic thrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MYH9-RD","MYH9-related disorder","MYH9-related syndrome"],"definition":"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-182050/","orphanet_url":"https://www.orpha.net/en/disease/detail/182050","names":{"fr":{"name":"Thrombocytopénie syndromique liée à MYH9","synonyms":["Syndrome MYH9","MYH9-RD","Maladie liée à MYH9"],"definition":"Le syndrome MYH9 est un trouble héréditaire des plaquettes géantes avec un phénotype complexe caractérisé par une thrombocytopénie et des signes ultérieurs possibles de surdité neurosensorielle, cataractes préséniles, augmentation des enzymes hépatiques et/ou néphropathie progressive conduisant souvent à une insuffisance rénale terminale (IRT). Le syndrome d'Epstein, de Fechtner, la thrombopénie de May-Hegglin et le syndrome de Sebastian, auparavant décrits comme maladies distinctes, représentent certaines des différentes présentations cliniques du syndrome MYH9."},"de":{"name":"MYH9-assoziierte syndromale Thrombozytopenie","synonyms":["MYH9-assoziierte Störung","Thrombozytopenie durch MYH9-Genmutation"]},"es":{"name":"Trombocitopenia sindrómica asociada a MYH9","synonyms":["Síndrome asociado a MYH9","Trastorno asociado a MYH9"],"definition":"Es un trastorno hereditario de plaquetas gigantes con un fenotipo complejo caracterizado por trombocitopenia congénita y posibles manifestaciones posteriores de hipoacusia neurosensorial, cataratas preseniles, elevación de las enzimas hepáticas y/o nefropatía progresiva que suele evolucionar a enfermedad renal terminal (ERT). El síndrome de Epstein, el síndrome de Fechtner, la anomalía de May-Hegglin y el síndrome de Sebastian, anteriormente descritos como trastornos distintos, representan algunas de las diferentes presentaciones clínicas de la enfermedad asociada a <i>MYH9</i>."},"it":{"name":"Trombocitopenia MYH9-correlata sindromica","synonyms":["Disturbo MYH9-correlato","MYH9-RD","Sindrome MYH9-correlata"]},"nl":{"name":"MYH9-gerelateerde syndromale trombocytopenie","synonyms":["MYH9-RD","MYH9-gerelateerd syndroom","MYH9-gerelateerde stoornis"],"definition":"MYH9-gerelateerde ziekte (MYH9-RD) is een overgeërfde stoornis van reuzenbloedplaatjes met een complex fenotype gekenmerkt door congenitale trombocytopenie en mogelijk daaropvolgende manifestaties van sensorineuraal gehoorverlies, preseniele cataracten, verhoging van leverenzymen en/of progressieve nefropathie die vaak leidt tot terminale nierziekte (ESRD)."},"pt":{"name":"Trombocitopenia sindrómica MYH9-relacionada","synonyms":["Doença MYH9-relacionada","MYH9-RD","Síndrome MYH9-relacionada"]},"pl":{"name":"Choroba związana z MYH9","synonyms":["MYH9-RD","Syndromiczna trombocytopenia związana z MYH9","Zaburzenie związane z MYH9","Zespół związany z MYH9"]},"cs":{"name":"MYH9-vázaná trombocytopenie","synonyms":["MYH9-RD","MYH9-vázaná porucha","MYH9-vázaný syndrom","MYH9-vázaná syndromová trombocytopenie"]},"uk":{"name":"Захворювання, повязане з MYH9","synonyms":["MYH9-RD","Захворювання, повязані з MYH9","Синдром, повязаний з MYH9","Синдромна тромбоцитопенія, повязана з MYH9"],"definition":"MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."},"zh":{"name":"MYH9基因相关性疾病","synonyms":["MYH9相关性综合征性血小板减少症"],"definition":"MYH9基因相关疾病（MYH9-RD）是一种遗传性巨血小板疾病，其主要临床为先天性血小板减少，随后可出现感音神经性耳聋、早老性白内障、肝酶升高和/或进行性肾病导致终末期肾病（ESRD）。Epstein综合征、Fechtner综合征、May-Hegglin异常和Sebastian综合征，之前被描述为不同的疾病，是MYH9-RD不同的临床表现。"},"tr":{"name":"MYH9 -ilişkili hastalık","synonyms":["MYH9-RD","MYH9-ilişkili bozukluk","MYH9-ilişkili sendrom","MYH9-ilişkili sendromik trombositopeni"]}},"xrefs":[{"source":"OMIM","code":"155100","qualifier":"E","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":"109013938"},{"source":"MONDO","code":"0015912","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535507","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5200934","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"180","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":807,"name":"Sebastian syndrome","status":"inactive"},{"type":"Moved to","orpha":850,"name":"May-Hegglin thrombocytopenia","status":"inactive"},{"type":"Moved to","orpha":1019,"name":"Epstein syndrome","status":"inactive"},{"type":"Moved to","orpha":1984,"name":"Fechtner syndrome","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"MYH9","name":"myosin heavy chain 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7579","ensembl":"ENSG00000100345","omim":"160775","loci":["22q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Italy","status":"Validated","source":"20301740[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"20301740[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-03","source":"20174760[PMID]_19408192[PMID]_10973259[PMID]_10973260[PMID]_21009925[PMID]","terms":[{"hpo":"HP:0001905","label":"Congenital thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001902","label":"Giant platelets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011877","label":"Increased mean platelet volume","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008264","label":"Neutrophil inclusion bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007819","label":"Presenile cataracts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004406","label":"Spontaneous, recurrent epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null}]}}