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 We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy. 31836692 2020
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 Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants. 31194872 2019
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 Correction to: Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. 30694351 2019
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated by early onset atherosclerosis. 29438482 2018
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 We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. 28641778 2017
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease BEFREE The diagnosis of familial partial lipodystrophy was made after the discovery of the lamin A/C gene 20 years later. 27026223 2016
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 The study involved four subjects with familial partial lipodystrophy who had a novel PPARG mutation (H449L) and six subjects with classic codon 482 LMNA mutations (R482W). 26756202 2016
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 Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in most cases by the A-type lamin R482W mutation. 25524705 2015
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease BEFREE In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS). 24152769 2014
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Mutational analysis was carried out of the LMNA gene in a teenage girl with an FPLD phenotype. 24485160 2014
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 Biomarker disease BEFREE We report a genetic link between LMNA and biopsy-proven FSGS in a large pedigree with FPLD. 24080738 2013
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Supporting this model, SUMO1-modification of the lamin A tail is reduced by two FPLD-causing mutations, G465D and K486N, and by single mutations in acidic residues E460 and D461. 23243001 2013
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA). 23313286 2013
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 Biomarker disease GENOMICS_ENGLAND We report a genetic link between LMNA and biopsy-proven FSGS in a large pedigree with FPLD. 24080738 2013
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE Some mutations in LMNA, encoding A-type lamins, are responsible for Dunnigan-type-familial partial lipodystrophy (FPLD2), with altered fat distribution and metabolism. 23846499 2013
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 Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. 21883346 2012
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE CIDEC is the disease gene for autosomal recessive, FPL and LMNA and ZMPSTE24 for autosomal recessive, mandibuloacral dysplasia-associated lipodystrophy. 21865368 2011
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation disease BEFREE In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. 21993218 2011