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
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 30 year-old male patient with FPLD2 who had a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene using non-integrating episomal vector technique. 31794942 2020
Familial Partial Lipodystrophy, Type 2
0.800 Biomarker disease BEFREE LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy. 30165155 2019
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE To evaluate the phenotypic heterogeneity and glucocorticoid sensitivity in FPLD2 patients exhibiting the p.R482W or p.R644C LMNA mutations. 30954027 2019
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE In patients with unexplained pancreatitis and hypertriglyceridemia, lipodystrophies such as familial partial lipodystrophy type 2 (FPLD2; Dunnigan type, due to LMNA mutations) should be considered. 30296183 2019
Familial Partial Lipodystrophy, Type 2
0.800 Biomarker disease BEFREE In agreement with these in vitro results indicating conversion of FPLD2 brown preadipocytes toward the white lineage, adipose tissue from FPLD2 patient neck, an area of brown adipogenesis, showed a white phenotype reminiscent of its brown origin. 31375660 2019
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE Familial partial lipodystrophy type 2 (FPLD2) is caused by an autosomal dominant mutation in the LMNA gene. 29108996 2018
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE In our experience, PCOS secondary to a missense mutation in the LMNA gene, known as familial partial lipodystrophy type 2 (FPLD2), is the most frequent form of PCOS secondary to severe IR due to genetically determined lipodystrophy. 30131000 2018
Familial Partial Lipodystrophy, Type 2
0.800 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE The mechanisms by which LMNA mutations lead to the adipose specific FPLD2 phenotype have yet to be determined in detail. 28872940 2017
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in <i>LMNA</i> encoding lamin A/C, a key epigenetic regulator. 28408391 2017
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE Our data demonstrate that lamin A/C gene mutations responsible for FPLD2 and related lipodystrophies are associated with transforming growth factor-β activation and an extracellular matrix imbalance in adipose tissue, suggesting that targeting these alterations could be the basis of novel therapies. 27845687 2017
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. 27778252 2017
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE In contrast, both overexpression of LMNA R482W in primary human preadipocytes and endogenous expression of A-type lamins R482W in FPLD2 patient fibroblasts, reduce A-type lamins-SREBP1 in situ interactions and upregulate a large number of SREBP1 target genes. 25524705 2015
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE We propose a model where the FPLD2 lamin A p.R482W mutation elicits, through up-regulation of FXR1P, a remodeling of an adipogenic differentiation program into a myogenic program. 24108105 2014
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease UNIPROT LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response. 24485160 2014
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE The high prevalence of early and severe cardiovascular outcomes in these patients suggests that, in addition to metabolic risk factors, FPLD2-associated LMNA mutations could have a direct role on the vascular wall cells. 23846499 2013
Familial Partial Lipodystrophy, Type 2
0.800 Biomarker disease GENOMICS_ENGLAND Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. 24002959 2013
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE Type 2 familial partial lipodystrophy (FPLD2) is a rare adipose tissue (AT) disease caused by mutations in LMNA, in which lipomas appear occasionally. 21883346 2012
Familial Partial Lipodystrophy, Type 2
0.800 Biomarker disease BEFREE A few specific mutations in the lamin A/C gene cause a disease with remarkably different clinical features: FPLD, or familial partial lipodystrophy (Dunnigan-type), which mainly affects adipose tissue. 21989830 2012
Familial Partial Lipodystrophy, Type 2
0.800 CausalMutation disease CLINVAR A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. 21346069 2011
Familial Partial Lipodystrophy, Type 2
0.800 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE Type 2 familial partial lipodystrophy (FPLD) is an autosomal-dominant lamin A/C-related disease associated with exercise intolerance, muscular pain, and insulin resistance. 20130076 2010
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease UNIPROT The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress. 19220582 2009
Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation disease BEFREE Type 2 familial partial lipodystrophy (FPLD2) is characterised by loss of fat in the limbs and buttocks and results from mutations in the LMNA gene. 18805829 2009
Familial Partial Lipodystrophy, Type 2
0.800 Biomarker disease CTD_human Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. 19793595 2009