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 Biomarker disease GENOMICS_ENGLAND
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 More recently a series of mutations of the insulin receptor gene have been identified as the cause of the extreme insulin resistance, observed in rare syndromes, such as type A insulin resistance or leprechaunism. 1306516 1992
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 Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied. 1607067 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease BEFREE Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied. 1607067 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31. 1730625 1992
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 AlteredExpression disease BEFREE In one patient with leprechaunism (leprechaun/Minn-1), there is greater than 90% decrease in the levels of insulin-receptor mRNA. 1968373 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the insulin receptor gene have been described in families with the inherited insulin-resistant syndrome leprechaunism. 2157428 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 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 UNIPROT A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. 2479553 1989
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 AlteredExpression disease BEFREE Although leprechaunism and type A syndrome are most likely due to defects in the structure and expression of the insulin-receptor gene, they are likely to be associated with specific point mutations rather than major changes in gene structure. 2562832 1989
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 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 UNIPROT Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding. 2834824 1988
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease BEFREE Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding. 2834824 1988
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 In this study we analyze insulin binding and subunit structure of the insulin receptor in dermal fibroblasts cultured from three unrelated families whose probands (Ark-1, Atl, and Minn) were affected by leprechaunism. 3631076 1987
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 Biomarker disease BEFREE Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism. 7535732 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance. 7536883 1995
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 BEFREE Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. 7538143 1995