|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin receptor (<i>INSR</i>) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS).
|
29082893 |
2018 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.
|
27326825 |
2017 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2.
|
28663160 |
2017 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
|
28765322 |
2017 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
|
26691667 |
2016 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
|
26691667 |
2016 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rabson-Mendenhall syndrome (RMS) is caused by mutations of the insulin receptor and results in extreme insulin resistance and dysglycemia.
|
23969187 |
2013 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS).
|
23824322 |
2013 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
|
22563226 |
2012 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a Japanese boy with RMS who showed resistance to r-IGF-1 therapy and a novel mutation in the insulin receptor in the tyrosine kinase domain.
|
22876563 |
2012 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
In conclusion, INSR mutations associated with RMS were identified.
|
21869538 |
2011 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, INSR mutations associated with RMS were identified.
|
21869538 |
2011 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.
|
18411068 |
2008 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.
|
18411068 |
2008 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance and hyperinsulinemia due to defects in signaling through the insulin receptor.
|
17560154 |
2007 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally.
|
17201797 |
2007 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally.
|
17201797 |
2007 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
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 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally.
|
17201797 |
2007 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype correlation in inherited severe insulin resistance.
|
12023989 |
2002 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
To determine the mechanism causing this progression and the paradoxical fasting hypoglycemia, we conducted a retrospective study in a patient with Rabson-Mendenhall syndrome, who was a compound heterozygous for two missense mutations affecting the kinase domain of the insulin receptor beta-subunit (I1115T and R1131W).
|
10443650 |
1999 |
|
Rabson-Mendenhall 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 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome.
|
9449692 |
1998 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit.
|
9212040 |
1997 |
|
Rabson-Mendenhall Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two mutant alleles of the insulin receptor gene were identified in a patient with the Rabson-Mendenhall syndrome who was a compound heterozygote for a mutation at the 3'-splice acceptor site of intron 4 (AG-->GG), the first mutation causing an aberrant splicing at this locus, and a deletion of eight base pairs in exon 12.
|
9299395 |
1997 |