Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations.
|
30762251 |
2019 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
|
31016899 |
2019 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The present case is the first-reported Chinese patient with isolated AN with a de novo K650 T mutation in FGFR3.
|
30635042 |
2019 |
Acanthosis Nigricans
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies.
|
30380187 |
2018 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Herein, we detail three new cases of AN with p.K650T FGFR3 mutation, and review the 21 known cases.
|
29068064 |
2018 |
Acanthosis Nigricans
|
0.200 |
Biomarker
|
disease |
BEFREE |
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors.
|
29351036 |
2018 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial acanthosis nigricans caused by the mutation of the fibroblast growth factor receptor 3 (FGFR3) gene is characterized by short stature, hypochondroplasia and acanthosis nigricans.
|
30168875 |
2018 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities.
|
28181399 |
2017 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We diagnosed our cases as familial generalized AN caused by heterozygous c.1949A>C (p.K650T) mutation of FGFR3.
|
26818779 |
2016 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our case shows that FGFR3 mutation analysis should be considered in case of the coexistence of acanthosis nigricans and a skeletal dysplasia.
|
20453470 |
2010 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.
|
19622626 |
2009 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
|
18583390 |
2008 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr.
|
18583390 |
2008 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Familial acanthosis nigricans due to K650T FGFR3 mutation.
|
17875876 |
2007 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Familial acanthosis nigricans due to K650T FGFR3 mutation.
|
17875876 |
2007 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Besides the expansion of the phenotypic spectrum of FGFR3-related OCDs to HCH with AN, this observation underscores the continuing adverse effect of this specific mutation upon the normal inhibitory signaling of the receptor at least in epidermal cells.
|
18000903 |
2007 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin.
|
16841094 |
2006 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.
|
15517832 |
2004 |
Acanthosis Nigricans
|
0.200 |
Biomarker
|
disease |
BEFREE |
Two other FGFRs, FGFR1 and FGFR3, also account for craniosynostoses of variable severity [Pfeiffer, Crouzon with acanthosis nigricans (a pre-malignant skin disorder), and Muenke syndromes].
|
14987407 |
2003 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, a specific point mutation in the FGFR3 gene has also been shown to result in Crouzon syndrome associated with acanthosis nigricans.
|
11870239 |
2002 |
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
|
10053006 |
1999 |