BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Myofibrillar Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. 30061062 2018
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. 28224639 2018
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7.7% of the DCM cohort): 10 variations on FLNC and 7 variations on BAG3 . 28436997 2017
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease BEFREE However, we now demonstrate that patients can develop a myopathy with histologic features of myofibrillar myopathy with aggregates and rimmed vacuoles, similar to the pathology in myopathies due to gene defects in other compounds of the CASA complex such as BAG3 and DNAJB6 after developing the early neurogenic effects. 26718575 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE To our knowledge this is the first study reporting, in a BAG3 MFM, the simultaneous presence of genetic variants in the BAG3 and FHL1 genes (previously described as independently associated with MFMs) and linking the NRAP gene to MFM for the first time. 27443559 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease CLINGEN To our knowledge this is the first study reporting, in a BAG3 MFM, the simultaneous presence of genetic variants in the BAG3 and FHL1 genes (previously described as independently associated with MFMs) and linking the NRAP gene to MFM for the first time. 27443559 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease BEFREE Since DNAJB6 is known to interact with members of the chaperone assisted selective autophagy complex (CASA), including BAG3 - a known myofibrillar myopathy causing gene, the molecular muscle pathology is apparently mediated through impaired functions of CASA and possibly other complexes needed for the maintenance of the Z-disk and sarcomeric structures. 26847086 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease CLINGEN BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality. 25728519 2015
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease BEFREE BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality. 25728519 2015
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease CLINGEN BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome. 26545904 2015
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease BEFREE The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, FLNC and BAG3) are now classically considered as responsible for MFM, other entities such as FHL1 myopathy or Hereditary Myopathy with Early Respiratory Failure linked to mutations of titin can now as well be included in this group. 26342832 2015
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease CLINGEN Interestingly, we detected a polyneuropathy in 28% of the MFM patients, including a BAG3 and a MYOT case, and hearing impairment in 13%, including one patient with a FLNC mutation and two with mutations in the DES gene. 25208129 2014
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 25208129 2014
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE To investigate the mechanism of disease in BAG3-related MFM, we expressed wild-type BAG3 or the dominant MFM-causing BAG3 (BAG3(P209L)) in zebrafish. 25273835 2014
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease BEFREE This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature. 22734908 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease BEFREE BAG3-related myofibrillar myopathy in a Chinese family. 21361913 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease BEFREE Further, we show that DNAJB6 interacts with members of the CASA complex, including the myofibrillar myopathy-causing protein BAG3. 22366786 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease CLINGEN This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature. 22734908 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. 21676617 2011
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease CLINGEN A homozygous disruption or genetic mutation of the bag3 gene, a member of the Bcl-2-associated athanogene (BAG) family proteins, causes cardiomyopathy and myofibrillar myopathy that is characterized by myofibril and Z-disc disruption. 20884878 2010
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE These observations suggest that the BAG3 variant of myofibrillar myopathy may result from a spontaneous mutation at an early point of embryonic development and that transmission from a mosaic parent may occur more than once. 20605452 2010
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE The most important recent advance in the MFMs has been the identification of mutation in Bag3 (Bcl-2-associated athanogene-3) as a new cause of MFM. 20664348 2010
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease GENOMICS_ENGLAND A homozygous disruption or genetic mutation of the bag3 gene, a member of the Bcl-2-associated athanogene (BAG) family proteins, causes cardiomyopathy and myofibrillar myopathy that is characterized by myofibril and Z-disc disruption. 20884878 2010
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 Biomarker disease CLINGEN These observations suggest that the BAG3 variant of myofibrillar myopathy may result from a spontaneous mutation at an early point of embryonic development and that transmission from a mosaic parent may occur more than once. 20605452 2010
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.800 GeneticVariation disease BEFREE We therefore searched for mutations in BAG3 in 53 unrelated MFM patients. 19085932 2009