FGF10, fibroblast growth factor 10, 2255

N. diseases: 152; N. variants: 28
Disease: Aplasia of Lacrimal and Salivary Glands ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 Biomarker disease BEFREE This report further confirms that ALSG is caused by the haploinsufficiency of functional FGF10. 26955834 2017
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 GeneticVariation disease BEFREE Heterozygous mutations in the gene encoding fibroblast growth factor 10 (FGF10) or its cognate receptor, FGF-receptor 2 IIIb result in two human syndromes - LADD (lacrimo-auriculo-dento-digital) and ALSG (aplasia of lacrimal and salivary glands). 27742760 2016
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 GeneticVariation disease BEFREE The underlying cause has been linked to "loss of function" mutations in the fibroblast growth factor 10 (FGF10) gene [M. Entesarian, et al., FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG), Eur.J. Hum.Genet.15 (3) (2007) 379-382]. 19376597 2009
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 GeneticVariation disease BEFREE We performed a sequence analysis of the FGF10 gene of a patient with ALSG-syndrome and his also affected brother as well as 193 controls. 19102732 2008
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 GermlineCausalMutation disease ORPHANET We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10. 17213838 2007
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 GeneticVariation disease BEFREE Fgf10 haploinsufficiency has been identified as the cause of autosomal dominant aplasia of lacrimal and salivary glands. 16476029 2006
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 Biomarker disease CTD_human
CUI: C0158667
Disease: Aplasia of Lacrimal and Salivary Glands
Aplasia of Lacrimal and Salivary Glands 		0.750 CausalMutation disease CLINVAR