Details of Disease

General Information of Disease (ID: DISOATHK)

Disease Name Bruck syndrome 2
Synonyms BRKS2; osteogenesis imperfecta with congenital Joint contractures; Bruck syndrome caused by mutation in PLOD2; PLOD2 Bruck syndrome; Bruck syndrome type 2; Bruck syndrome 2
Definition Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS9PCZ6: Bruck syndrome
DISOATHK: Bruck syndrome 2
Disease Identifiers
MONDO ID
MONDO_0012217
MESH ID
C537407
UMLS CUI
C1836602
OMIM ID
609220
MedGen ID
373129

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PLOD2 TT8MEUD moderate GermlineCausalMutation [1]
FKBP10 TT4P8O2 Strong GermlineCausalMutation [2]
PLOD2 TT8MEUD Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLOD2 OTKOZRZP Definitive Autosomal recessive [3]
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References

1 Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5.
2 Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4.
3 Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum. Am J Med Genet A. 2022 Jun;188(6):1815-1825. doi: 10.1002/ajmg.a.62718. Epub 2022 Mar 12.