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 BEFREE Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism. 7550226 1995
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE In this investigation, we have identified a one year-old boy from a consanguineous pedigree who is homozygous for deletion of the insulin receptor gene resulting in leprechaunism. 7693131 1993
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 UNIPROT In spite of a homozygous abnormality of the insulin receptor gene and many of the clinical features of severe insulin resistance, the proband's clinical syndrome was noticeably different from previously described patients with leprechaunism who usually die within the first six months of life. 7815442 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease BEFREE About 20 cases of primary receptor mutations (type A syndrome of insulin resistance, leprechaunism and Rabson-Mendenhall syndrome) and 16 cases of autoantibodies against insulin receptor (type B syndrome of insulin resistance) are described in Japan. 7859597 1994
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 Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. 8101305 1993
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 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 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 UNIPROT A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 8326490 1993
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 GeneticVariation disease BEFREE Prenatal analysis of the insulin receptor gene in a family with leprechaunism. 8532629 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. 8606887 1995
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 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 GeneticVariation disease BEFREE Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor. 8881457 1996
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism. 9112018 1997
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT Here we report the prenatal diagnosis of leprechaunism in two unrelated families in which affected children were compound heterozygotes with two different deficient IR alleles. 9249867 1997
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Here we report the prenatal diagnosis of leprechaunism in two unrelated families in which affected children were compound heterozygotes with two different deficient IR alleles. 9249867 1997
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 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 BEFREE Mutations in the insulin receptor gene cause the severe insulin-resistant syndromes leprechaunism and Rabson-Mendenhall syndrome, whose metabolic features include fasting hypoglycemia, post-prandial hyperglycemia, and extremely elevated insulin levels. 10443650 1999
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989 2002