rs57077886, LMNA

N. diseases: 9
Disease: Familial generalized lipodystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
0.010 GeneticVariation BEFREE Compared with other patients with APS, those with the heterozygous LMNA p.T10I mutation were younger in age but had increased prevalence of generalized lipodystrophy, diabetes mellitus, acanthosis nigricans, hypertriglyceridemia, and hepatomegaly, together with higher fasting serum insulin and triglyceride levels and lower serum leptin and high-density lipoprotein cholesterol levels. 29267953 2018