MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE May-Hegglin anomaly (MHA) is a rare type of autosomal dominant platelet disorder associated with mutations in the gene encoding nonmuscle myosin heavy chain 9 (MYH9). 16044442 2005
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE MYH9 disorders such as May-Hegglin anomaly are characterized by macrothrombocytopenia and cytoplasmic granulocyte inclusion bodies that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA (NMMHC-IIA). 18192507 2008
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA). 19557653 2009
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. 10973259 2000
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly. 22477015 2012
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). 11159552 2001
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype BEFREE The identification of MYH9 as the disease gene for MHA establishes the pathogenesis of the disorder, should provide further insight into the processes of normal platelet formation and may facilitate identification of the genetic basis of related disorders. 10973260 2000
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder caused by a mutation in the myosin heavy chain 9 (MYH9) gene. 30720677 2020
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Haplotype analysis using three novel microsatellite markers revealed that three E1841K carriers--one with MHA and two with FTNS--shared a common haplotype around the MYH9 gene, suggesting a common ancestor. 11590545 2001
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Mutations in the non-muscle myosin heavy chain IIA gene (MYH9) are responsible for May-Hegglin anomaly, Sebastian, Fechtner and Epstein syndromes. 11943476 2002
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype BEFREE MYH9 Disorders (May-Hegglin Anomaly) the Role of the Blood Smear. 30807393 2019
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype BEFREE We report on recent advances in Wiskott-Aldrich and Bernard-Soulier syndromes, as well as in MYH9-related diseases, a new nosological entity that groups old distinct forms known as May-Hegglin anomaly, Sebastian, Fetchner, and Epstein syndromes. 12161364 2002
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE These findings were consistent with MHA and they were identified to express the MYH9 mutation, D1424H. 21329637 2011
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. 11776386 2001
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Mutation of the non-muscle myosin heavy chain type II-A results in MYH9-related hereditary macrothrombocytopenia (HMTC), including four autosomal dominant platelet disorders: May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FS) and Epstein (EPS) syndrome. 16098078 2005
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. 23007341 2012
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Recent evidence links MHA to mutations in the MYH9 gene. 23759689 2014
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE To characterize platelet abnormalities deriving from MYH9 mutations better, we studied surface glycoproteins (GPs) in platelets from MHA-SBS patients. 12217806 2002
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping disorders. 22886561 2012
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype BEFREE MYH9-associated disorders (May-Hegglin anomaly, Epstein and Fechtner syndrome, and others) are inherited in an autosomal dominant manner and characterized by defects in different organs (including eyes, ears, kidneys and thrombocytes). 23144074 2012
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype BEFREE Hereditary thrombocytopenias characterized by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA) are known as MYH9-related hereditary macrothrombocytopenia, and include the May-Hegglin anomaly, Sebastian platelet syndrome, Fechtner syndrome, and Epstein syndrome. 17655694 2007
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype BEFREE MYH9 spectrum disorders include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. 26446054 2016
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151 2003
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Abnormalities of the MYH9 locus also underlie rare autosomal dominant diseases such as May-Hegglin anomaly, and Sebastian, Epstein (EPS), and Fechtner (FTNS) syndromes that are characterized by macrothrombocytopenia and cytoplasmic inclusion bodies in granulocytes. 20200500 2010
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		1.000 GeneticVariation disease BEFREE MHA-SBS are due to mutations of the gene (MYH9) for the heavy chain of non-muscle myosin IIA (NMMHC-IIA), the only myosin II expressed in platelets. 12217806 2002