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 Common obesity and inherited lipodystrophies, rare disorders characterized by a partial (familial partial lipodystrophy; FPLD) or complete (congenital generalized lipodystrophy; CGL) lack of adipose tissue, are both associated with metabolic complications such as insulin resistance and type 2 diabetes. 20621503 2010
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 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 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 So far, three CGL loci: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and caveolin 1 (CAV1) and four FPL loci: lamin A/C (LMNA), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2) and zinc metalloprotease (ZMPSTE24), have been identified. 19162222 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Mutations of the LMNA gene have been shown to cause an autosomal dominant form of insulin resistance with familial partial lipodystrophy (PLD), frequently accompanied by diabetes. 19859838 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease CTD_human Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene. 19793595 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Transgenic mice were generated that express the LMNA mutation that causes familial partial lipodystrophy of the Dunnigan type (FPLD2). 19201734 2009
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 GeneticVariation disease BEFREE The aim of our study was to compare the fertility and occurrence of obstetrical complications of women with familial partial lipodystrophy due to LMNA (lamin A/C) mutations with those of nonaffected relatives, women from the general population, and women with polycystic ovary syndrome (PCOS). 18364375 2008
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
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease BEFREE The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor gamma in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B. 17374881 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease LHGDN The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 18041775 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Mutations in LMNA encoding lamin A and C proteins cause monogenic syndromes characterized by muscular dystrophy and familial partial lipodystrophy. 17327437 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE The most extreme cases of apoptosis occur in cells derived from diseases with mutations in the tail region of the LMNA gene, such as Dunningan-type familial partial lipodystrophy and mandibuloacral dysplasia, and this correlates with a significant level of micronucleation in these cells. 17274801 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 18041775 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE OBJECTIVE, DESIGN, SETTING, AND PATIENTS: Sequencing of the LMNA coding regions in 277 unrelated adults investigated for lipodystrophy and/or insulin resistance revealed 17 patients with substitutions at codon 482 observed in typical Dunnigan's familial partial lipodystrophy and 10 patients with other mutations. 17711925 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Mutations in the LMNA gene (encoding lamin A/C) underlie familial partial lipodystrophy, a syndrome of monogenic insulin resistance and diabetes. 17327460 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE For instance, evaluation of the clinical features of carriers of mutant LMNA in kindreds with familial partial lipodystrophy suggests rational, staged intervention using established pharmaceutical agents to prevent cardiovascular complications not just for patients with lipodystrophy but by extension for patients with the common metabolic syndrome. 17466974 2007
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 We analyzed differentiation of 3T3-L1 preadipocytes to adipocytes in cells overexpressing wild-type lamin A as well as lamin A with amino acid substitutions at position 482 that cause FPLD. 16415042 2006
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE One example is familial partial lipodystrophy (FPLD), a rare monogenic form of insulin resistance caused by mutations in either LMNA, encoding nuclear lamin A/C (subtype FPLD2), or in PPARG, encoding peroxisomal proliferator-activated receptor-gamma (subtype FPLD3). 15890790 2005
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 Biomarker disease BEFREE Pathophysiological mechanisms explaining how mutations in an unique gene could lead to such various phenotypes are still unknown, but probably involve alterations in cellular mechanical stress responses, in gene expression, and/or in post-translational maturation of lamin A. Familial Partial Lipodystrophy of the Dunnigan type (FPLD2), with specific features of pseudo-cushingoid lipodystrophy, marked insulin resistance and muscular hypertrophy, and a relatively homogeneous genotype, was thought, until recently, to be the only laminopathy causing diabetes. 16357800 2005
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease CTD_human Dunnigan-type familial partial lipodystrophy (FPLD) is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. FPLD is characterized by peripheral fat loss, excess central adiposity, insulin resistance, and hyperlipidaemia, which are difficult to treat. 16241930 2005