Details of Disease | DrugMAP

General Information of Disease (ID: DISCLKVK)

Disease Name	Bruck syndrome 1
Synonyms	Kuskokwim disease; BRKS1; Bruck syndrome 1; arthrogryposis-like disorder; FKBP10 Bruck syndrome; Bruck syndrome type 1; Bruck syndrome caused by mutation in FKBP10
Definition	Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.
Disease Hierarchy	DIS9PCZ6: Bruck syndrome DISCLKVK: Bruck syndrome 1
Disease Identifiers	MONDO ID MONDO_0009806 MESH ID C537406 UMLS CUI C1850168 OMIM ID 259450 MedGen ID 342431

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
FKBP10	TT4P8O2	Strong	Autosomal recessive	[1]
FKBP10	TT4P8O2	Strong	GermlineCausalMutation	[2]
PLOD2	TT8MEUD	Strong	GermlineCausalMutation	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FKBP10	OTYKLW1K	Strong	Autosomal recessive	[1]
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References

1	A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. Eur J Med Genet. 2012 Jan;55(1):17-21. doi: 10.1016/j.ejmg.2011.10.002. Epub 2011 Oct 24.
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	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.