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 		0.600 GeneticVariation disease BEFREE In our patient, compound heterozygosity with PLOD2 mutations is associated with a clinical phenotype distinctive from classic BRKS2 indicating that when COL1A1 and COL1A2 mutation testing is negative for OI without congenital contractures or pterygia, atypical BRKS should be considered. 31472299 2020
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 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 		0.600 GeneticVariation disease BEFREE Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. 29178448 2018
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 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 		0.600 GeneticVariation disease BEFREE Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. 25238597 2014
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 GeneticVariation disease BEFREE The phenotype overlaps with that seen with mutations in PLOD2 (Bruck syndrome II), which encodes LH2, the enzyme that hydroxylates the telopeptide lysyl residues. 22949511 2013
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 Biomarker disease BEFREE Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity. 22689593 2012
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 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 		0.600 GermlineCausalMutation disease ORPHANET Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity. 22689593 2012
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity. 22689593 2012
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 GeneticVariation disease BEFREE Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone fragility; Bruck syndrome type 2 is caused by mutations in PLOD2 encoding collagen lysyl hydroxylase, whereas Bruck syndrome type 1 has been mapped to chromosome 17, with evidence suggesting region 17p12, but the gene has remained elusive so far. 20839288 2011
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 GermlineCausalMutation disease ORPHANET The proportion of BS cases linked to 17p22 (BS type 1) or caused by mutations in PLOD2 (BS type 2) is still uncertain, and phenotypic correlations are lacking. 15523624 2004
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 GeneticVariation disease BEFREE The proportion of BS cases linked to 17p22 (BS type 1) or caused by mutations in PLOD2 (BS type 2) is still uncertain, and phenotypic correlations are lacking. 15523624 2004
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		0.600 Biomarker disease BEFREE Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. 9927692 1999