FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: Bruck syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Mutations in FKBP10 and PLOD2 were identified as the underlying genetic defects of Bruck syndrome. 29177700 2018
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Grouping according to phenotypic and radiographic features revealed four individuals with Bruck syndrome due to FKBP10 mutations, three patients with hypertrophic callus caused by IFITM5 mutations, and twenty with pronounced bone bowing, of which eight carried WNT1 mutations. 29499418 2018
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE In family 3, the proband displayed a novel compound heterozygous mutation in FKBP10, c.813_814delGA (p.Glu271AspfsX101) and c.831delC (p.Gly278AlafsX20), and did not have Bruck syndrome. 29512769 2018
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Bruck Syndrome is a connective tissue disease associated with inactivating mutations in lysyl hydroxylase 2 (LH2/PLOD2) or FK506 binding protein 65 (FKBP65/FKBP10). 28378777 2017
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Mutations in the FK506 Binding Protein 10 (FKBP10), gene encoding the 65-kDa protein FKBP65, cause a recessive form of OI and Bruck syndrome, the latter being characterized by joint contractures in addition to low bone mass. 28206698 2017
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 Biomarker disease BEFREE Recently, several studies described FKBP10 mutations in OI-like and BS patients, suggesting that FKBP10 is a bonafide BS locus. 27146342 2016
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 Biomarker disease BEFREE Moreover, FKBP65 does not interact with LH1 and LH3, explaining why in BS triple-helical hydroxylysines are not affected. 27298363 2016
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. 25931047 2015
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease 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: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE With the exception of a FKBP10 mutation in the BS case, all changes are novel. 23613367 2013
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GermlineCausalMutation disease ORPHANET Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 22949511 2013
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GermlineCausalMutation disease ORPHANET Our report of the first Indonesian patient with clinically Bruck syndrome, confirms the role of causative recessive FKBP10 mutations in this syndrome. 22085994 2012
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GermlineCausalMutation disease ORPHANET Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in all cases. 22689593 2012
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of congenital joint contractures with absence of recessive variants in PLOD2, mutation analysis was performed of the FKBP10 gene, recently associated with Bruck syndrome and/or recessive OI. 22085994 2012
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease 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: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Our study demonstrates that FKBP10 mutations not only cause Bruck syndrome or Osteogenesis imperfecta type III but can result in a severe type of isolated Osteogenesis imperfecta type IV with prenatal onset. 22107750 2011
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 Biomarker disease BEFREE These results, combined with recently published work, confirm that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FKBP10 mutations. 21567934 2011
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.400 GeneticVariation disease BEFREE Therefore, we conclude that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruck syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized. 20839288 2011