INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Donohue Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT We studied the structure and function of the insulin receptor (IR) in two sisters with leprechaunism. 8636294 1996
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease BEFREE We studied the structure and function of the insulin receptor (IR) in two sisters with leprechaunism. 8636294 1996
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease CTD_human We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE We have previously shown that a homozygous mutation encoding a substitution of proline for leucine at position 233 in the insulin receptor is linked with the syndrome of leprechaunism, being a lethal form of insulin resistance in newborn children. 1931997 1991
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE We conclude that in this family two different recessive mutations impair high-affinity insulin-receptor binding and that the proband with leprechaunism is a compound heterozygote for these mutations. 3883764 1985
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance. 12970295 2003
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance. 12970295 2003
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Using next-generation sequencing (NGS), we screened 27 known genes involved in inherited maturity-onset diabetes of the young (MODY) and identified compound heterozygous mutations in the INSR gene in the patient with DS, c.62T>G (p.L21R) and c.2563G>T (p.V855F). 28803747 2017
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. 7538143 1995
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation. 23229189 2013
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE To evaluate whether alterations in insulin receptor kinase of erythrocytes can be used as genetic markers, we studied patients with two apparently inherited conditions of severe insulin resistance (leprechaunism and the type A syndrome of insulin resistance) and their families. 3029156 1987
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease BEFREE Thus, we have biochemically characterized a new family of leprechaunism (Ark-2) and have found insulin receptor phosphorylation defects in their phenotypically normal parents. 2569023 1989
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE This study describes the clinical course of a male patient with Donohue syndrome and the molecular characteristics of 2 novel compound heterozygous mutations in INSR. 26160152 2015
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 AlteredExpression disease BEFREE These studies therefore raise the possibility that the phenotypic expression of leprechaunism results from defects in the expression of both the IR and the EGFR. 1316988 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT These data indicate that patient NZ with leprechaunism was a compound heterozygote for 2 novel mutations in the insulin receptor gene and that direct DNA sequencing enables prenatal diagnosis for this lethal disorder. 7538143 1995
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor. 2365819 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor. 2365819 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. 26974131 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance. 27840822 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Restriction fragment length polymorphisms of the insulin receptor gene in families with insulin resistance and leprechaunism. 2574533 1989
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Prenatal analysis of the insulin receptor gene in a family with leprechaunism. 8606887 1995
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Prenatal analysis of the insulin receptor gene in a family with leprechaunism. 8532629 1995