MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: Fechtner syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 24890873 2015
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 25505834 2014
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. 23976996 2013
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease MGD Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 21908426 2012
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 21908426 2012
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 GeneticVariation disease 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: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 GeneticVariation disease 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: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. 21542825 2011
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 GeneticVariation disease 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: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 GeneticVariation disease BEFREE Using the case of a 44-yr-old male with Fechtner syndrome (macrothrombocytopenia, leukocyte inclusions, sensorineural deafness, glomerulonephritis) who underwent neurosurgery for an intracerebral arteriovenous malformation, we describe current methods to diagnose hereditary MYH9-related macrothombocytopenia by analysis of the blood smear, immunofluorescence staining of the NMMHC-IIA in leucocytes, and by MYH9-gene sequencing. 17655694 2007
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Expression of Myh9 in the mammalian cochlea: localization within the stereocilia. 16862555 2006
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Cochlear implants for DFNA17 deafness. 17146397 2006
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources. 16630581 2006
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. 15339844 2005
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 16162639 2005
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 GeneticVariation disease BEFREE Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151 2003
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 GeneticVariation disease BEFREE We studied a large FTNS family in which 10 components carried a missense mutation of MYH9 determining the D1424H substitution. 12500226 2003
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 GeneticVariation disease BEFREE EPTS macrothrombocytopenia is similar to that described in FTNS, May-Hegglin anomaly (MHA), and Sebastian syndrome (SBS), three disorders caused by mutations in the nonmuscle heavy chain myosin IIA ( MYH9). 11935325 2002
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998