Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly(12) promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades.
|
25367099 |
2015 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
|
20658932 |
2011 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
|
25668678 |
2015 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells.
|
3004741 |
1986 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a gain of function Rasopathy caused by heterozygous activating mutations in the HRAS gene.
|
28856719 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes.
|
17054105 |
2007 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Panel testing for rasopathies identified a novel HRAS mutation (c.179G>A; p.Gly60Asp) in three individuals with attenuated features of Costello syndrome.
|
25914166 |
2015 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.
|
20979192 |
2010 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC.
|
17567882 |
2007 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The GTP-bound form of HRAS was significantly enriched in CS compared with normal fibroblasts.
|
19035362 |
2009 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Functional specificity of ras isoforms: so similar but so different.
|
21779495 |
2011 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and try to outline the clinical characteristics facilitating early recognition of this syndrome, which can now be corroborated by testing the HRAS gene.
|
17726614 |
2008 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Other less common lesions in HRAS can induce a milder phenotype on the one hand and a more severe phenotype on the other broadening the spectrum of clinical manifestations in CS-affected individuals.
|
22926243 |
2012 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes.
|
17054105 |
2007 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene.
|
26419841 |
2016 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes.
|
17054105 |
2007 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression.
|
2105486 |
1990 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.
|
17412879 |
2007 |
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because of its particular cancer risk, the term "Costello syndrome" should only be used for patients with proven HRAS mutation.
|
17704260 |
2007 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Enhanced human brain associative plasticity in Costello syndrome.
|
20660566 |
2010 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
|
28027064 |
2017 |
Costello syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.
|
17412879 |
2007 |
Costello syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS.
|
16443854 |
2006 |