MEGF10, multiple EGF like domains 10, 84466

N. diseases: 41; N. variants: 17
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. 31267131 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE Recessive mutations in multiple epidermal growth factor-like domains 10 (MEGF10) underlie a rare congenital muscle disease known as MEGF10 myopathy. 30802937 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. 29128256 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Mutations in MEGF10 cause early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), a rare congenital muscle disease, but the pathogenic mechanisms remain largely unknown. 28498977 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE This is the first report on East Asian patients with MEGF10 myopathy showing two phenotypes, indicating the genotype-phenotype correlation in MEGF10 myopathy. 27460346 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Multiple EGF-like domains 10 (Megf10) is a class F scavenger receptor (SR-F3) expressed on astrocytes and myosatellite cells, and recessive mutations in humans result in early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD). 27170117 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE MEGF10 mutations can cause myopathy with adult-onset respiratory insufficiency. 26802438 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Our analysis of drpr mutant flies revealed muscle degeneration with fiber size variability and vacuolization, as well as reduced motor performance, features that have been observed in human MEGF10 myopathy. 25111228 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 23453856 2013
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Screening the MEGF10 open reading frame in 190 patients with genetically unexplained myopathies revealed a heterozygous mutation, c.211C > T (p.R71W), in one additional subject with a similar clinical and histological presentation as the discovery family. 22371254 2012
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 AlteredExpression group BEFREE MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia. 22101682 2011
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group CTD_human MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia. 22101682 2011