LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Disease: Atypical Werner syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Atypical progeroid syndrome (APS) is a type of progeroid syndrome mainly associated with LMNA mutations. 31807803 2020
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE All were found to be heterozygous for a c.11C>G (p.Pro4Arg) (P4R) mutation in the lamin A/C gene consistent with atypical progeroid syndrome. 31378009 2019
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. 31270292 2019
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). 29267953 2018
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE In contrast, wild-type lamin A and lamin A mutants causing atypical Werner syndrome were able to bind to these molecules. 28423660 2017
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. 27265359 2016
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. 27539898 2016
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE The two siblings who presented with generalized lipodystrophy were diagnosed with an atypical progeroid syndrome with a p.D136H mutation in the LMNA gene (NM_005572). 26122271 2015
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. 25327215 2014
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Besides HGPS, mutations in LMNA gene have also been reported in atypical progeroid syndrome (APS). 24861648 2014
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE LMNA (Lamin A/C) gene mutation with atypical Werner's syndrome have recently been reported. 19270485 2009
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation. 19095983 2009
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Heterozygous LMNA mutations have also been reported in a small number of patients with a less well-characterized atypical progeroid syndrome (APS). 19875478 2009
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Atypical Werner's syndrome associated with Arg133Leu mutation in the LMNA gene presents with a phenotypically heterogeneous disorder. 16174718 2005
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GeneticVariation disease BEFREE Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN). 12927431 2003