|
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 |
|
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 |
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 |
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 |
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 |
CausalMutation
|
CLINVAR |
The A391E mutation enhances FGFR3 activation in the absence of ligand.
|
21536014 |
2011 |
|
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 |
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 |
|
Malignant neoplasm of urinary bladder
|
|
0.020 |
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 |
|
Malignant neoplasm of urinary bladder
|
|
0.020 |
GeneticVariation
|
BEFREE |
First, we show that the A391E mutation, linked to Crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances FGFR3 dimerization in the absence of ligand and thus induces aberrant receptor interactions.
|
26244699 |
2015 |
|
Pfeiffer Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
This finding illustrates the first reported case of a child with an overlap with Pfeiffer syndrome to have the p.Ala391Glu variant.
|
31016899 |
2019 |
|
Seborrheic keratosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In two SKs, the A393E mutation was found, which has not been described in acanthotic and hyperkeratotic SKs so far.
|
16778799 |
2006 |