LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.920 GermlineCausalMutation disease ORPHANET De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513 2008
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.800 GermlineCausalMutation disease ORPHANET Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506 2002
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GermlineCausalMutation disease ORPHANET Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 10739751 2000
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GermlineCausalMutation disease ORPHANET Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585 2000
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 GermlineCausalMutation disease ORPHANET LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854 2009
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 GermlineCausalMutation disease ORPHANET Restrictive dermopathy: a rare laminopathy. 18470519 2008
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 GermlineCausalMutation disease ORPHANET Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. 19020898 2009
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		0.700 GermlineCausalMutation disease ORPHANET Heart-hand syndrome of Slovenian type: a new kind of laminopathy. 18611980 2008
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		0.530 GermlineCausalMutation disease ORPHANET
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GermlineCausalMutation disease ORPHANET In four (15%) of 26 patients with atypical Werner's syndrome, we noted heterozygosity for novel missense mutations in LMNA, specifically A57P, R133L (in two people), and L140R. 12927431 2003
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GermlineCausalMutation disease ORPHANET Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. 19270485 2009
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome 		0.300 GermlineCausalMutation disease ORPHANET Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 19283854 2009
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.300 GermlineCausalMutation disease ORPHANET Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC). 23736219 2014
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. 22199124 2012
CUI: C4750858
Disease: LMNA-related cardiocutaneous progeria syndrome
LMNA-related cardiocutaneous progeria syndrome 		0.300 GermlineCausalMutation disease ORPHANET LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 23666920 2013
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. 23497705 2013
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. 22065502 2011
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. 24639906 2014
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR Altered splicing in prelamin A-associated premature aging phenotypes. 17076270 2006
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. 23804595 2013
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. 15121795 2004
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR A novel lamin A/C mutation in a Dutch family with premature atherosclerosis. 23659872 2013
CUI: C0033300
Disease: Progeria
Progeria 		1.000 CausalMutation disease CLINVAR A new lamin a mutation associated with acrogeria syndrome. 24687084 2014