FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Acanthosis Nigricans ×
Source: ALL
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 All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu). 10541159 1999
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.200 GeneticVariation disease BEFREE Therefore, any molecular model of the origin of acanthosis nigricans secondary to FGFR3 mutations must account for the association of diverse mutations and these cutaneous effects. 9182787 1997
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.200 GeneticVariation disease BEFREE We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin. 8880573 1996
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.200 Biomarker disease HPO