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 Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. 8188715 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989 2002
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. 22768670 2012
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 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 GeneticVariation disease BEFREE An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin. 8702527 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 Mutations in the insulin receptor gene can cause genetic syndromes such as leprechaunism that are associated with extreme insulin resistance. 7815442 1994
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 UNIPROT Activation of glucose transport by a natural mutation in the human insulin receptor. 8419945 1993
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 Biomarker disease GENOMICS_ENGLAND
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 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 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 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 UNIPROT Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. 9299395 1997
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 Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity. 7962321 1994
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 Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. 9703342 1998
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 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 Biomarker disease GENOMICS_ENGLAND
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 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