|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
The p.Ala391Glu change has been predominantly identified in patients with Crouzon syndrome with acanthosis nigricans.
|
31016899 |
2019 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene.
|
28181399 |
2017 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans.
|
23437153 |
2013 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
|
22038757 |
2011 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
CausalMutation
|
CLINVAR |
The A391E mutation enhances FGFR3 activation in the absence of ligand.
|
21536014 |
2011 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
CausalMutation
|
CLINVAR |
Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN.
|
20199409 |
2010 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
CausalMutation
|
CLINVAR |
Pathogenic activation of receptor tyrosine kinases in mammalian membranes.
|
18976668 |
2008 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
UNIPROT |
The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation.
|
17935505 |
2007 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation.
|
17935505 |
2007 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer.
|
16384584 |
2006 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
|
11426459 |
2001 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
CausalMutation
|
CLINVAR |
Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation.
|
9857065 |
1998 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
|
7493034 |
1995 |
|
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
CausalMutation
|
CLINVAR |
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
|
7493034 |
1995 |
|
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.
|
23437153 |
2013 |
|
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
The A391E mutation enhances FGFR3 activation in the absence of ligand.
|
21536014 |
2011 |
|
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
|
20199409 |
2010 |
|
Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues.
|
19165726 |
2009 |
|
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic activation of receptor tyrosine kinases in mammalian membranes.
|
18976668 |
2008 |
|
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
|
11426459 |
2001 |
|
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
|
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
|
7493034 |
1995 |
|
Acanthosis Nigricans
|
|
0.040 |
GeneticVariation
|
BEFREE |
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
|
31016899 |
2019 |
|
Acanthosis Nigricans
|
|
0.040 |
GeneticVariation
|
BEFREE |
Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations.
|
11039354 |
2000 |
|
Acanthosis Nigricans
|
|
0.040 |
GeneticVariation
|
BEFREE |
All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu).
|
10541159 |
1999 |