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 Homozygous deletion of the human insulin receptor gene results in leprechaunism. 7693131 1993
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR Activation of glucose transport by a natural mutation in the human insulin receptor. 8419945 1993
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 27896077 2014
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT 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 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 CausalMutation disease CLINVAR A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. 2300553 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR 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 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 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 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 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE In the present case, the patient had been diagnosed with leprechaunism with mutation in the insulin receptor gene and had treatment with recombinant human insulin-like growth factor I (IGF-I) starting at the age of 1 year 7 months. 18302477 2008
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 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 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 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 1995
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Homozygous mutations in the insulin receptor (IR) gene cause the rare leprechaunism and Rabson-Mendenhall syndromes, severe forms of hyperinsulinemic insulin resistance for which no therapy is currently available. 15610610 2005
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Patients with leprechaunism were homozygous or compound heterozygous for mutations in the extracellular domain of the insulin receptor and their cells had markedly impaired insulin binding (<10% of controls). 12023989 2002
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: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR 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 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 GeneticVariation disease BEFREE Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene. 22972224 2013
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 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 Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject. 12538626 2003
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied. 1607067 1992