Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 AlteredExpression disease BEFREE Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies. 30380187 2018
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009 2011
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 19622626 2009
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease CLINVAR Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903 2007
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease LHGDN Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876 2007
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876 2007
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease LHGDN Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903 2007
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease LHGDN Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. 15517832 2004
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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
CUI: C0000889
Disease: Acanthosis Nigricans
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