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 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 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 Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations. 12015247 2002
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct. 12729796 2003
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 BEFREE Recently, lamin A/C gene mutations were found in patients with FPL, Dunnigan variety. 11788685 2002
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 BEFREE She was subsequently found to have familial partial lipodystrophy (FPLD2, OMIM #151660) caused by an R482Q mutation in the LMNA gene encoding lamin A/C. 26662654 2015
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE We have studied anthropometrical, clinical, and metabolic gender differences in a Spanish family with FPLD resulting from a lamin A/C gene mutation, R482W. 12669268 2003
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Mutations in the lamin A (LMNA) gene are associated with the tissue-specific diseases Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy (LGMD-1B), dilated cardiomyopathy with conduction system disease (DCM-CD), and Dunnigan's familial partial lipodystrophy (FPLD). 11709282 2001
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 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 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 Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. 24002959 2013
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Rare mutations in LMNA were shown to cause familial partial lipodystrophy, a syndrome characterized by regional loss of adipose tissue, glucose intolerance, and dyslipidemia, making LMNA a candidate gene for insulin-resistant diabetes. 12145775 2002
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 By contrast, lamin A and C molecules harboring a point mutation (R482W), which gives rise to a dominant form of familial partial lipodystrophy, behave in a manner that is indistinguishable from wild-type lamins A and C, at least with respect to targeting and assembly within the nuclear lamina. 11792810 2001
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 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 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 GeneticVariation disease BEFREE Twenty-six subjects (9.7%) were positive for a beta-cell antibody, one subject had familial partial lipodystrophy and the lamin A/C mutation R482W, and two subjects had the mitochondrial mutation A3243G. 12832318 2003
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE The binding of lamin A to SREBP1 was noticeably reduced by FPLD mutations. 11929849 2002
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