LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Familial partial lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy, Dunnigan variety (FPLD), is an autosomal dominant disorder due to missense mutations in the lamin A/C (LMNA) gene encoding nuclear lamina proteins. 12716787 2003
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease LHGDN Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. 15298354 2004
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor gamma (PPARgamma). 15531525 2004
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor-gamma (PPARgamma). 17299075 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy 2 (FPLD2) is due to mutations in the LMNA gene. 18031308 2008
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease BEFREE Familial partial lipodystrophy of the Dunnigan type (FPLD2) presents with a decrease of subcutaneous adipose tissue (SAT) in the limbs and trunk. 20373986 2010
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy, Dunnigan variety (FPLD2) is a rare autosomal-dominant disorder due to heterozygous missense lamin A/C (LMNA) mutations. 30418556 2019
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Lamin A/C mutations cause the autosomal-dominant form of EDMD, limb-girdle muscular dystrophy with atrioventricular conduction disturbances (type 1B), hypertrophic cardiomyopathy and Dunnigan-type familial partial lipodystrophy. 11073359 2000
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE LMNA mutations in nondiabetic patients with FPLD are associated with several metabolic and biochemical changes, particularly in women. 12524233 2003
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease LHGDN LMNA mutations in nondiabetic patients with FPLD are associated with several metabolic and biochemical changes, particularly in women. 12524233 2003
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease BEFREE LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy. 30165155 2019
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. 19011997 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the "hot spot" for FPLD. 20625965 2010
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. 29044029 2018
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE A variety of missense mutations in LMNA (the gene for lamin C and prelamin A) cause familial partial lipodystrophy (FPLD), a disease associated with reduced adipose tissue, particularly in the limbs. 27841971 2016
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE All LMNA mutation carriers had FPLD with insulin resistance. 11342468 2001
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE All subjects had FPLD-causing mutations in LMNA. 16181372 2005
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Although adipokines have been implicated, few data exist in subjects with FPLD; therefore we investigated a family with FPLD due to a lamin A/C mutation in order to determine how abnormalities of the plasma adipokine profile relate to insulin resistance and the metabolic syndrome. 16320084 2005
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Although FPLD mutations are predominantly localized in exon 8 of LMNA, the finding of a novel mutation at codon 584, together with the R582H heterozygous substitution recently described, confirms that the C-terminal region specific to the lamin A isoform is a second susceptibility region for mutations in FPLD. 11078466 2000
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Among the lipodystrophies, LMNA mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenotypic heterogeneity in the pattern of body fat loss has been observed. 22700598 2012
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE AS can be attributed to familial factors and that genetic variation in LMNA might not only underlie rare cases of FPLD, but may also contribute to variation in adipocyte size in the general population. 11243729 2001
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple metabolic disturbances, including insulin resistance and dyslipidemia. 12453919 2002
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Because FPLD is an extreme example of genetically disturbed adipocyte differentiation, it is possible that common variation in LMNA is associated with obesity-related phenotypes. 11015599 2000
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Because familial partial lipodystrophy is an extreme example of genetically disturbed adipocyte differentiation, it is possible that common variation in LMNA is associated with obesity-related phenotypes. 11397881 2001
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene, establishing the definitive diagnosis as Dunnigan-type familial partial lipodystrophy complicated by severe insulin resistance and secondary PCOS. 18728124 2008