rs11575937, LMNA

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 CausalMutation CLINVAR
Lethal tight skin contracture syndrome (disorder)
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
0.700 CausalMutation CLINVAR
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 CausalMutation CLINVAR
Progeria
CUI: C0033300
Disease: Progeria
0.700 CausalMutation CLINVAR
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
0.700 CausalMutation CLINVAR
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
0.700 CausalMutation CLINVAR
Malouf syndrome
CUI: C0796031
Disease: Malouf syndrome
0.700 CausalMutation CLINVAR
Heart-hand syndrome, Slovenian type
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
0.700 CausalMutation CLINVAR
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.700 CausalMutation CLINVAR
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
0.700 CausalMutation CLINVAR
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 CausalMutation CLINVAR
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
0.050 GeneticVariation BEFREE Lipodystrophy associated with LMNA mutation R482L causes loss of fat tissue. 29040816 2018
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
0.010 GeneticVariation BEFREE A clinical picture related to the LMNA Arg482Gln mutation may be more diversified than it was previously considered and include low BMI and pulmonary fibrosis. 19859838 2009
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation 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
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. 12629077 2003
Partial lipodystrophy
CUI: C4316789
Disease: Partial lipodystrophy
0.040 GeneticVariation BEFREE Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. 10810087 2000
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.030 GeneticVariation BEFREE Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. 10810087 2000
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation 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
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.010 GeneticVariation 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
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE DNA sequencing of LMNA in five Canadian FPLD probands indicated that each had a novel missense mutation, R482Q, which co-segregated with the FPLD phenotype and was absent from 2000 normal alleles ( P = 1.1 x 10(-13)). 10587585 2000
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
0.020 GeneticVariation BEFREE FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease. 11122771 2000
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.030 GeneticVariation BEFREE FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease. 11122771 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845 2000
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 CausalMutation CLINVAR Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845 2000
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. 23313286 2013