MYH3, myosin heavy chain 3, 4621

N. diseases: 160; N. variants: 24
Disease: Freeman-Sheldon syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 CausalMutation disease CLINVAR Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila. 30826400 2019
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 29805041 2018
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis. 29314551 2018
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE To the best of our knowledge, this is the first report in the medical literature of molecularly confirmed parental mosaicism for a MYH3 mutation causing FSS. 26996280 2016
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. 26578207 2015
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. 25683120 2015
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE We measured the contractile properties of individual skeletal muscle cells and the activation and relaxation kinetics of isolated myofibrils from two adult individuals with an R672C substitution in embryonic myosin and distal arthrogryposis syndrome 2A (DA2A) or Freeman-Sheldon syndrome. 25740846 2015
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE DA type 2A (DA2A or Freeman-Sheldon syndrome), caused by mutations in MYH3, is typically considered the most severe of the DA syndromes. 25256237 2014
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease BEFREE Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). 23850728 2013
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease BEFREE Considering only genes that contained variants in all cases, the VEST gene score ranked dihydroorotate dehydrogenase (DHODH) number 2 of 2253 genes in four cases of Miller syndrome, and myosin-3 (MYH3) number 2 of 2313 genes in three cases of Freeman Sheldon syndrome. 23819870 2013
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. 20924721 2011
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease BEFREE DA2B, or Sheldon-Hall syndrome (SHS; MIM 601680), is intermediate to DA1 and DA2A, or Freeman-Sheldon syndrome (FSS; MIM193700), and shows prominent facial traits. 21402185 2011
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome). 21531865 2011
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease BEFREE Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). 19142688 2009
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease UNIPROT Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. 18695058 2008
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 CausalMutation disease CLINVAR Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. 18695058 2008
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GermlineCausalMutation disease ORPHANET FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype. 16642020 2006
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease BEFREE Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis. 16642020 2006
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease UNIPROT FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype. 16642020 2006
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 CausalMutation disease CLINVAR FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype. 16642020 2006
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease BEFREE We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. 9012416 1997
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 Biomarker disease CTD_human