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: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Clinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene. 31102683 2019
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 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: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Treatment with glimepiride did not improve insulin sensitivity in a patient with type A insulin resistance syndrome carrying Ile1143Phe heterozygous mutation in the INSR gene. 29469970 2018
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 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: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE A previously reported proband with type A insulin resistance syndrome and her younger twin brothers with and without the R1174W missense mutation in the insulin receptor gene were followed for 9 years to study the progression of glucose metabolism, insulin sensitivity, and β-cell function around puberty. 24155250 2014
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome. 24468607 2014
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GermlineCausalMutation disease ORPHANET Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene. 20339196 2010
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Several types of mutations in insulin receptor gene have been identified in patients with type A insulin resistance. 20591525 2010
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene. 19135752 2009
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 Biomarker disease BEFREE Severe insulin resistance resulting from known or putative genetic defects affecting the insulin receptor or post-insulin receptor signalling represents a clinical spectrum ranging from Donohue's and Rabson-Mendenhall syndrome, where the genetic defect is identified, through to the milder phenotype of type A insulin resistance, where a genetic defect can only be detected in around 10% of cases. 17785698 2007
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance. 12970295 2003
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance. 11260230 2001
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Insulin receptor gene mutations are found in extreme Type A insulin resistance but not in moderate forms of insulin resistance (O'Rahilly et al., 1991). 9039330 1996
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Therefore, we hypothesize that two findings are necessary for the presentation of type A insulin resistance in this patient: an in-frame deletion of the insulin receptor exon 2 that codes for amino acids crucial for insulin binding: and an inhibition of expression of the paternal insulin receptor allele. 8890729 1996
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE In the other mutant allele, there is a missense mutation substituting serine for Asn462-a mutation identified previously in one allele of the insulin receptor gene in a patient with type-A insulin resistance. 7860063 1995
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE We have used DGGE to screen for mutations in the insulin receptor gene in a family in which four of five daughters were affected by type A insulin resistance in association with acanthosis nigricans and hyperandrogenism. 8175972 1994
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GermlineCausalMutation disease ORPHANET Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049 1994
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE A glycine-1008 to valine mutation in the insulin receptor in a woman with type A insulin resistance. 8392082 1993
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 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: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE Abnormal messenger ribonucleic acid (mRNA) transcribed from a mutant insulin receptor gene in a patient with type A insulin resistance. 1644241 1992
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE In patients with type A insulin resistance, this has been shown to be due to genetic defects in insulin receptor function. 1890161 1991
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans. 2544997 1989
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
0.400 GeneticVariation disease BEFREE A point mutation in the human insulin receptor gene in a patient with type A insulin resistance alters the amino acid sequence within the tetrabasic processing site of the proreceptor molecule from Arg-Lys-Arg-Arg to Arg-Lys-Arg-Ser. 3283938 1988