FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 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: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GeneticVariation disease UNIPROT 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: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GermlineCausalMutation disease ORPHANET A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. 22085994 2012
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GermlineCausalMutation disease ORPHANET Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 22689593 2012
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GeneticVariation disease UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288 2011
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 20696291 2010
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 CausalMutation disease CLINVAR
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 Biomarker disease CTD_human
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 GeneticVariation disease BEFREE Our study identified, for the first time, a private pathogenic splice site mutation in FKBP10 gene and further prove the involvement of this gene in the rare cases of autosomal recessive OI type XI with distinguished clinical manifestations. 29801479 2018
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 GeneticVariation disease BEFREE In conclusion, we report for the first time that these novel pathogenic mutations of FKBP10 can lead to the extremely rare type XI OI without contractures, which expands the genotypic spectrum of OI. 27762305 2017
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 CausalMutation disease CLINVAR Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. 27362741 2016
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 GeneticVariation disease BEFREE In another branch, a child with moderate type XI OI has a homozygous FKBP10 mutation (c.1271_1272delCCinsA). 22718341 2012
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.630 Biomarker disease CTD_human
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