FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: Congenital contracture ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		0.040 GeneticVariation group BEFREE Recessive mutations in FKBP10 at 17q21.2, encoding FKBP65, cause both osteogenesis imperfecta (OI) and Bruck syndrome (OI plus congenital contractures). 23712425 2013
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		0.040 GeneticVariation group BEFREE PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. 22689593 2012
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		0.040 GeneticVariation group BEFREE Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. 22107750 2011
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		0.040 GeneticVariation group BEFREE Here we describe five families with OI-like bone fragility in association with congenital contractures who all had FKBP10 mutations. 20839288 2011