|
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism.
|
9112018 |
1997 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.
|
2479553 |
1989 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.
|
15161766 |
2004 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
|
8326490 |
1993 |
|
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 |
1994 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Activation of glucose transport by a natural mutation in the human insulin receptor.
|
8419945 |
1993 |
|
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism.
|
7535732 |
1994 |
|
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 |
|
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 |
Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance.
|
7536883 |
1995 |
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin.
|
8702527 |
1996 |
|
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 |
BEFREE |
Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity.
|
7962321 |
1994 |