LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Dilated cardiomyopathy caused by lamin A/C gene (LMNA) mutation is complicated with atrioventricular (AV) conduction disturbances, malignant ventricular arrhythmias, and progressive severe heart failure. 31060954 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Sudden death and heart failure because of left ventricular dysfunction are important causes of mortality, particularly in those patients that have the LMNA mutation. 30518714 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Thus, global errors in chromosomal compartmentation are not the primary pathogenic mechanism in heart failure due to lamin A/C haploinsufficiency. 31395619 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscle and electrical dysfunction of the heart, often leading to heart failure-related disability. 30053027 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscular and electrical dysfunction of the heart, often leading to heart failure-related disability. 29982513 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Mutations in the LMNA gene are a common cause (6-8%) of dilated cardiomyopathy (DCM) leading to heart failure, a growing health care problem worldwide. 29702688 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. 29741282 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE The novel LMNA nonsense mutation c.544C>T causes a severe arrhythmogenic phenotype manifesting with high incidence of SCD in most patients; and in one sub-family, a distinct phenotype with fast progressing heart failure, indicating the need for early consideration of ICD-implantation and listing for heart-transplantation. 29947763 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as 'cardiolaminopathies' characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. 30130999 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE Given the clinical impact of LMNA cardiomyopathies, understanding lamin function will fulfill a clinical need and will lead to advancement in the treatment of heart failure. 29432544 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is characterized by cardiac conduction abnormalities and left ventricular systolic dysfunction predisposing to heart failure. 28069793 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Cardiomyopathy caused by lamin A/C gene mutations (LMNA cardiomyopathy) is characterized by increased myocardial fibrosis, which impairs left ventricular relaxation and predisposes to heart failure, and cardiac conduction abnormalities. 27131347 2016
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE Although FTD is not a constant pathological feature of LMNA-myopathy, we should consider the possibility of LMNA-myopathy whenever a diagnosis of CFTD is made and take steps to prevent cardiac insufficiency. 24642510 2014
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE LMNA cardiomyopathy has an aggressive clinical course with higher rates of deadly arrhythmias and heart failure than most other heart diseases. 21810905 2011
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE They further provide proof of principle for ERK inhibition as a therapeutic option to prevent or delay heart failure in humans with Emery-Dreifuss muscular dystrophy and related disorders caused by mutations in LMNA. 18927124 2009
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation. 18926329 2008
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Our in vivo and in vitro results question the relationship of causality between LMNA mutations and the development of heart failure in some DCM patients and therefore, the reliability of genetic counselling. 16061563 2005