{"Name":"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss","DiseaseID__c":"GARD:0000180","id":180,"encodedName":"macrothrombocytopenia-and-granulocyte-inclusions-with-or-without-nephritis-or-sensorineural-hearing-loss","IsDeleted":false,"Disease_Name_Full__c":"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss","Xref_IDs__c":"234484005; 234485006; 236422008; 712922002; C131646; C158788; C5200934; C537831; DOID:0060651; MEDGEN:1704278; MONDO:0015912; OMIM:155100; ORPHA:182050","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0015912","Disease_Description__c":"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.","GARD_Name__c":"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss","GARD_Synonym__c":"alport syndrome with macrothrombocytopenia; bleeding disorder, platelet-type, 6; dohle leukocyte inclusions with giant platelets; epstein syndrome; fechtner syndrome; giant platelet syndrome with thrombocytopenia; macrothrombocytopenia and progressive sensorineural deafness; macrothrombocytopenia with dispersed leukocytic inclusions; macrothrombocytopenia with leukocyte inclusions; macrothrombocytopenia, nephritis, and deafness; macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions; matins; may-hegglin anomaly; myh-9 related disease; myh9 related disease; myh9-rd; myh9-related disease; myh9-related disorder; myh9-related syndrome; myh9-related syndromic thrombocytopenia; myosin heavy chain 9 non muscle related disease; sebastian platelet syndrome; sebastian syndrome","Curated_Disease_Description_Source__c":"GARD:0000180","Curated_Disease_Description__c":"MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are small cells that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood. An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). Some affected individuals develop cataracts in early adulthood that worsen over time. Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:182050","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015912","ORPHANET_ID__c":"ORPHA:182050","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia sindrómica asociada a myh9","Spanish_Description_Source__c":"ORPHA:182050","Spanish_Description__c":"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>.","Spanish_Disease_Name__c":"trombocitopenia sindrómica asociada a myh9","Spanish_GARD_Synonym__c":"síndrome asociado a myh9; trastorno asociado a myh9","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are small cells that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood. An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). Some affected individuals develop cataracts in early adulthood that worsen over time. Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.","Curated_Disease_Description_Source__c":"GARD:0000180","GARD_Synonym__c":"alport syndrome with macrothrombocytopenia; bleeding disorder, platelet-type, 6; dohle leukocyte inclusions with giant platelets; epstein syndrome; fechtner syndrome; giant platelet syndrome with thrombocytopenia; macrothrombocytopenia and progressive sensorineural deafness; macrothrombocytopenia with dispersed leukocytic inclusions; macrothrombocytopenia with leukocyte inclusions; macrothrombocytopenia, nephritis, and deafness; macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions; matins; may-hegglin anomaly; myh-9 related disease; myh9 related disease; myh9-rd; myh9-related disease; myh9-related disorder; myh9-related syndrome; myh9-related syndromic thrombocytopenia; myosin heavy chain 9 non muscle related disease; sebastian platelet syndrome; sebastian syndrome","Name":"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or se","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:182050"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:182050"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:182050"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:182050"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:182050"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0398641"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0403445"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000180","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK2689","Source__c":"Gene Review","Xref__c":"NBK2689"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537831","Source__c":"MONDO:0015912","Xref__c":"C537831"},{"URL__c":"https://www.orpha.net/en/disease/detail/182050","Source__c":"C5200934; MONDO:0015912; ORPHA:182050","Xref__c":"ORPHA:182050"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C158788","Source__c":"C5200934; MONDO:0015912","Xref__c":"C158788"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5200934","Source__c":"C5200934","Xref__c":"C5200934"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131646","Source__c":"MONDO:0015912","Xref__c":"C131646"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236422008","Source__c":"MONDO:0015912","Xref__c":"236422008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060651","Source__c":"MONDO:0015912","Xref__c":"DOID:0060651"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1704278","Source__c":"C5200934","Xref__c":"MEDGEN:1704278"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234485006","Source__c":"MONDO:0015912","Xref__c":"234485006"},{"URL__c":"https://www.omim.org/entry/155100","Source__c":"C5200934; MONDO:0015912; ORPHA:182050","Xref__c":"OMIM:155100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234484005","Source__c":"MONDO:0015912","Xref__c":"234484005"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=712922002","Source__c":"C5200934; MONDO:0015912","Xref__c":"712922002"},{"URL__c":"https://medlineplus.gov/genetics/condition/myh9-related-disorder","Source__c":"GARD:0000180","Xref__c":"https://medlineplus.gov/genetics/condition/myh9-related-disorder"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015912","Source__c":"GARD:0000180","Xref__c":"MONDO:0015912"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Average platelet volume above the upper limit of the normal reference interval.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011877","HPO_Synonym__c":"Large platelets","HPO_Name__c":"Increased mean platelet volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008264","HPO_Name__c":"Neutrophil inclusion bodies","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004406","HPO_Synonym__c":"Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed","HPO_Name__c":"Spontaneous, recurrent epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007819","HPO_Synonym__c":"Presenile cataract","HPO_Name__c":"Presenile cataracts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thrombocytopenia with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001905","HPO_Synonym__c":"thrombocytopenia, congenital","HPO_Name__c":"Congenital thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001902","HPO_Name__c":"Giant platelets","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:182050","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Hematology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Hematology","Otolaryngology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["alport syndrome with macrothrombocytopenia"," bleeding disorder, platelet-type, 6"," dohle leukocyte inclusions with giant platelets"," epstein syndrome"," fechtner syndrome"," giant platelet syndrome with thrombocytopenia"," macrothrombocytopenia and progressive sensorineural deafness"," macrothrombocytopenia with dispersed leukocytic inclusions"," macrothrombocytopenia with leukocyte inclusions"," macrothrombocytopenia, nephritis, and deafness"," macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions"," matins"," may-hegglin anomaly"," myh-9 related disease"," myh9 related disease"," myh9-rd"," myh9-related disease"," myh9-related disorder"," myh9-related syndrome"," myh9-related syndromic thrombocytopenia"," myosin heavy chain 9 non muscle related disease"," sebastian platelet syndrome"," sebastian syndrome"]}