|
Donohue 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 |
|
Donohue Syndrome
|
0.800 |
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 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
|
28765322 |
2017 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the leprechaunism case, mutations in INSR other than Ser98Arg were not identified, and qRT-PCR analysis revealed that mRNA expression of INSR in lymphocytes was reduced in the leprechaunism case.
|
28181734 |
2017 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using next-generation sequencing (NGS), we screened 27 known genes involved in inherited maturity-onset diabetes of the young (MODY) and identified compound heterozygous mutations in the INSR gene in the patient with DS, c.62T>G (p.L21R) and c.2563G>T (p.V855F).
|
28803747 |
2017 |
|
Donohue Syndrome
|
0.800 |
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 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
|
26874853 |
2016 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation.
|
26974131 |
2016 |
|
Donohue Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
|
26874853 |
2016 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births).
|
26871809 |
2016 |
|
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 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations were looked for in the insulin receptor gene of a four-month-old female baby with leprechaunism.
|
25465274 |
2015 |
|
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 |
2015 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Donohue syndrome (DS) is a severe form of congenital insulin resistance due to mutation(s) in the insulin receptor (INSR) gene.
|
25153212 |
2014 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features.
|
24498630 |
2014 |
|
Donohue Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features.
|
24498630 |
2014 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation.
|
23229189 |
2013 |
|
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our report provides important insights into the function of INSR, and for the treatment of leprechaunism.
|
22972224 |
2013 |
|
Donohue 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 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
|
22768670 |
2012 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
|
22768670 |
2012 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in the insulin receptor have been causally implicated with leprechaunism, the full pathophysiology of the syndrome cannot be accounted for by malfunction of this gene alone.
|
20033851 |
2010 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene.
|
19774849 |
2009 |
|
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain.
|
18411068 |
2008 |
|
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 |