MYH9-Related Disorders

A spectrum of disorders caused by mutations in the MYH9 gene (OMIM: 160775) and characterized by thrombocytopenia, large platelets, and distinct lleukocyte inclusions (Dohle-like bodies); sensorineural deafness, CATARACTS, and NEPHRITIS may also occur.

Also Known As:

Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia; Alport syndrome with macrothrombocytopenia; Autosomal Dominant Myh9 Spectrum Disorders; DFNA17; Deafness, Autosomal Dominant 17; Dohle leukocyte inclusions with giant platelets; Epstein syndrome; Fechtner syndrome; Fechtner's syndrome; MYH9 Gene-Related Autosomal Macrothrombocytopenias; MYH9-Related Disease; MYH9RD; Macrothrombocytopathy, Nephritis, and Deafness; Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions; Macrothrombocytopenia with leukocyte inclusions; May-Hegglin anomaly; Myh9-Related Disorder; Myh9-Related Macrothrombocytopenias; Sebastian platelet syndrome; Sebastian syndrome

Networked: 146 relevant articles (5 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombocytopenia (Thrombopenia)
2.	Proteinuria
3.	Bernard-Soulier Syndrome (Giant Platelet Syndrome)
4.	Hearing Loss (Hearing Impairment)
5.	Gray Platelet Syndrome

Experts

1.	Pecci, Alessandro: 20 articles (02/2019 - 04/2002)
2.	Savoia, Anna: 16 articles (02/2019 - 02/2002)
3.	Balduini, Carlo L: 13 articles (02/2014 - 02/2002)
4.	Bozzi, Valeria: 10 articles (02/2019 - 03/2008)
5.	Kunishima, Shinji: 9 articles (12/2021 - 03/2008)
6.	Seri, Marco: 9 articles (02/2014 - 02/2002)
7.	De Rocco, Daniela: 7 articles (02/2019 - 07/2009)
8.	Noris, Patrizia: 7 articles (02/2019 - 04/2002)
9.	Greinacher, Andreas: 6 articles (05/2022 - 09/2007)
10.	Heller, Paula G: 5 articles (01/2016 - 03/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to MYH9-Related Disorders:

1.	eltrombopag FDA Link 11/28/2022 - "This is the first report of a chronic use of eltrombopag to elevate platelets in MYH9-related disorders without side effects." 11/01/2023 - "Thus, eltrombopag may be a safe and effective alternative to prophylactic platelet transfusions in patients with MYH9-related disease." 11/01/2023 - "Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease." 01/01/2018 - "Eltrombopag to Treat Thrombocytopenia During Last Month of Pregnancy in a Woman With MYH9-Related Disease: A Case Report." 11/01/2023 - "Here, we describe prophylactic administration of eltrombopag, an oral thrombopoietin receptor agonist, prior to laparoscopic peritoneal dialysis catheter placement in a 15-year-old girl with MYH9-related disease. "
2.	Deamino Arginine Vasopressin (Desmopressin)FDA LinkGeneric 06/01/2000 - "We describe the management of a patient with Fechtner's syndrome involving desmopressin, prednisone, and platelets, which produced safe and effective results during cochlear implant surgery." 01/01/1990 - "Shortening of the bleeding time with DDAVP was seen in patients with a failure to release/storage pool type defect, thromboxane synthesis type defect, Bernard-Soulier syndrome, Glanzmann's thrombasthenia, the May-Hegglin anomaly, liver disease, nonuremic renal disease, myelofibrosis, and Tangier's disease."
3.	Prednisone (Sone)FDA LinkGeneric 06/01/2000 - "We describe the management of a patient with Fechtner's syndrome involving desmopressin, prednisone, and platelets, which produced safe and effective results during cochlear implant surgery."
4.	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 04/02/2019 - "Angiotensin-converting enzyme inhibitors may be effective in reducing proteinuria in patients with Fechtner syndrome. "
5.	Myosin Heavy Chains (Myosin Heavy Chain)IBA 01/01/2009 - "Genetic studies confirmed mutations in the gene encoding the myosin heavy chain (MYH-9), and Epstein Syndrome was diagnosed. " 08/01/2008 - "The study was purposed to investigate the expression and function of non-muscle myosin heavy chain-IIA (NMMHC-IIA) in Fechtner syndrome in order to explore the pathologic changes of kindy disease and the mechanism of granulocyte inclusion body formation. " 12/29/2021 - "The Fechtner, Sebastian, and Epstein syndromes are associated with mutations of the MYH9-coding nonmuscle myosin heavy chain IIA, similar to the May-Hegglin anomaly, and are together classified as MYH9 disorders. " 10/01/2021 - "May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder in the spectrum of myosin heavy chain-related disorders (MYH9-RD), characterized by congenital macrothrombocytopenia and white blood cell inclusions. " 05/07/2021 - "May-Hegglin anomaly is an example of a coagulopathy, which is caused by a mutation in the gene encoding non-muscle myosin heavy chain 9 (MYH9) and therefore falls into a group of diseases referred to as MYH9-related diseases (MYH9-RD). "
6.	Proteins (Proteins, Gene)FDA Link 12/01/2011 - "Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly." 11/01/2006 - "Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families." 09/21/2010 - "Blood samples from healthy donors, a May-Hegglin-anomaly patient, and a Glanzmann's Thrombasthenia patient were analyzed via iPC to confirm the specificity of the interaction between protein matrices and platelets. " 07/15/2003 - "Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome." 01/01/2019 - "MYH9-related disease (MYH9-RD) is a rare, autosomal dominant disorder caused by mutations in MYH9, the gene encoding the actin-activated motor protein non-muscle myosin IIA (NMIIA). "
7.	Myosin Type IIIBA 10/29/2019 - "Using in vivo imaging and biophysical analysis, we show that engineering human MYH9-related disease mutations into Drosophila myosin II produces motors with altered organization and dynamics that fail to drive rapid cell movements, resulting in defects in epithelial morphogenesis. " 01/05/2012 - "Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A." 10/13/2006 - "To investigate the involvement of the SH1 helix in elastic distortion in myosin, we have introduced a point mutation into the SH1 helix of Dictyostelium myosin II (R689H), which in human nonmuscle myosin IIA causes nonsyndromic hereditary deafness, DFNA17. " 11/01/2000 - "Previous studies have shown that modification of amino acid residues within the SH1 helix causes dysfunction of the ATPase activity of the motor domain in myosin II. Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated."
8.	Monoclonal AntibodiesIBA 01/01/2003 - "Two patients diagnosed Epstein syndrome (ES), two with Bernard-Soulier syndrome (BSS) and eight with Mediterranean macrothrombocytopenia (MM) were studied using flow cytometry combined to monoclonal antibodies (MoAbs). " 09/01/1984 - "In the present study platelets from patients with the Gray platelet syndrome (GPS), May-Hegglin anomaly (MHA), and Epstein's syndrome (ES) were examined in thin sections and negatively stained whole mounts, and by indirect immunofluorescence with a monoclonal antibody to tubulin for determination of the organization of their microtubule systems. "
9.	N-Acetylneuraminic Acid (Sialic Acid)IBA 08/01/1981 - "Since studies of the giant platelets in the Bernard-Soulier syndrome have shown decreased electrophoretic mobility, decreased sialic acid, and an abnormality in a membrane glycoprotein, we performed similar studies on the giant platelets from two patients with the May-Hegglin anomaly. "
10.	TubulinIBA 09/01/1984 - "In the present study platelets from patients with the Gray platelet syndrome (GPS), May-Hegglin anomaly (MHA), and Epstein's syndrome (ES) were examined in thin sections and negatively stained whole mounts, and by indirect immunofluorescence with a monoclonal antibody to tubulin for determination of the organization of their microtubule systems. "

Therapies and Procedures

1.	Cochlear Implants (Cochlear Implant) 04/01/2015 - "This report offers the second description of the performance of a cochlear implant in a patient with Epstein syndrome. " 04/01/2022 - "Little information is available about the progress of SNHL, the efficacy of cochlear implants (CI) or the perioperative management of thrombocytopenia in patients with Epstein syndrome. " 12/01/2006 - "Thus, cochlear implants should be strongly considered for clinical management of patients with DFNA17 deafness." 12/01/2006 - "Cochlear implants for DFNA17 deafness." 06/01/2000 - "We describe the management of a patient with Fechtner's syndrome involving desmopressin, prednisone, and platelets, which produced safe and effective results during cochlear implant surgery."
2.	Cochlear Implantation 06/30/2014 - "Cochlear implantation is safe and effective in patients with MYH9-related disease." 04/01/2022 - "We herein report a case of a patient with Epstein syndrome with the MYH9:c.2105G>A:p.R702H variant who underwent cochlear implantation after 27 years of follow-up for her progressive SNHL. " 04/01/2022 - "Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up." 04/01/2015 - "A case of cochlear implantation in a patient with Epstein syndrome." 08/01/2013 - "Cochlear implantation in a patient with Epstein syndrome."
3.	Platelet Transfusion (Blood Platelet Transfusions) 07/01/1998 - "We advocate a reappraisal of basing platelet transfusion and mode of delivery on the platelet count in patients with May-Hegglin anomaly." 11/01/2023 - "Thus, eltrombopag may be a safe and effective alternative to prophylactic platelet transfusions in patients with MYH9-related disease." 01/01/2018 - "Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly." 11/01/2020 - "Epstein syndrome is a myosin heavy chain 9 (MYH9)-related disorder characterized by hearing loss and macrothrombocytopenia with renal failure, which usually requires platelet transfusion during surgery. "
4.	Splenectomy 01/01/1989 - "Successful splenectomy in May-Hegglin anomaly: report of a case with platelet kinetic studies."
5.	Kidney Transplantation 01/01/2023 - "Successful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist." 04/01/2019 - "Epstein syndrome nephropathy due to a severe MYH9 gene mutation can be refractory and progress rapidly; therefore, early and accurate diagnosis is important for safer therapeutic options including pre-emptive renal transplantation. " 04/01/2019 - "Early preparation for treatment based on early and accurate diagnosis of Epstein syndrome enabled two patients to undergo pre-emptive renal transplantation. " 04/01/2019 - "Epstein syndrome patients who underwent renal transplantation at our institution between March 2009 and March 2017 were enrolled. " 04/01/2019 - "Management of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation."