INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.160 GeneticVariation disease BEFREE This case might help to understand the mechanisms insulin receptor dysfunction that cause lipodystrophy. 31102683 2019
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.160 GeneticVariation disease BEFREE Patients with extreme insulin resistance due to lipodystrophy or insulin receptor mutations (INSR) are treated with high-dose insulin and recombinant leptin (metreleptin), which may increase the risk of thyroid neoplasia. 30657911 2019
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.160 GeneticVariation disease BEFREE Leptin and total and high-molecular-weight adiponectin were measured in plasma of 16 BSCL1/AGPAT2 and 19 BSCL2/seipin patients and compared with heterozygous (n = 22) or nonmutated relatives (controls, n = 30); patients with Dunnigan-type partial lipodystrophy due to lamin A/C mutations (n = 23), HIV-related lipodystrophy (n = 124), and insulin receptor dysfunctions caused by mutations or autoantibodies (n = 17). 20097706 2010
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.160 GeneticVariation disease BEFREE First, we performed an association study between the IR gene and congenital lipoatrophy in two families with consanguineous parents and one or two affected children (patients D1, D2, and D3). 7829633 1995
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.160 Biomarker disease BEFREE These findings demonstrate that the primary genetic lesion in Seip-Berardinelli's lipodystrophy is outside the insulin receptor gene and that an involvement of the insulin-like growth factor I receptor is also unlikely. 8458533 1993
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.160 GeneticVariation disease BEFREE Several members of this family also carry a unique variant insulin receptor gene, which, however, could not be linked to a specific alteration in receptor expression or the presence of lipoatrophy.(ABSTRACT TRUNCATED AT 250 WORDS) 2903867 1988
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.160 Biomarker disease HPO