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: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Mutations in the insulin receptor (<i>INSR</i>) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). 29082893 2018
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SIR), including insulin resistance type A, Rabson⁻Mendenhall syndrome and Donohue syndrome (DS), with DS representing the most severe form of insulin resistance. 29695048 2018
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 GeneticVariation disease BEFREE Mutations in the insulin receptor (<i>INSR</i>) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). 29082893 2018
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 In the leprechaunism case, mutations in INSR other than Ser98Arg were not identified, and qRT-PCR analysis revealed that mRNA expression of INSR in lymphocytes was reduced in the leprechaunism case. 28181734 2017
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: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 GeneticVariation disease BEFREE Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates. 27326825 2017
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 GeneticVariation disease BEFREE Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. 28663160 2017
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall 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 First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. 26874853 2016
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 CausalMutation disease CLINVAR First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. 26874853 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births). 26871809 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are associated with extreme insulin resistance. 26691667 2016
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 GeneticVariation disease BEFREE A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 26691667 2016
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 CausalMutation disease CLINVAR A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 26691667 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Mutations were looked for in the insulin receptor gene of a four-month-old female baby with leprechaunism. 25465274 2015
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 GeneticVariation disease BEFREE Donohue syndrome (DS) is a severe form of congenital insulin resistance due to mutation(s) in the insulin receptor (INSR) gene. 25153212 2014
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. 24498630 2014
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. 24498630 2014
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 Biomarker disease BEFREE Our report provides important insights into the function of INSR, and for the treatment of leprechaunism. 22972224 2013
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). 23824322 2013