Details of Disease | DrugMAP

General Information of Disease (ID: DIS9PCZ6)

Disease Name	Bruck syndrome
Synonyms	osteogenesis imperfecta-congenital joint contractures syndrome; osteogenesis imperfecta with congenital joint contractures
Definition	Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS5Z8U6: Skeletal dysplasia DIS9PCZ6: Bruck syndrome
Disease Identifiers	MONDO ID MONDO_0017195 UMLS CUI C0432253 MedGen ID 609420 Orphanet ID 2771 SNOMED CT ID 254113006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FKBP10	TT4P8O2	Supportive	Autosomal recessive	[1]
PLOD2	TT8MEUD	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FKBP10	OTYKLW1K	Supportive	Autosomal recessive	[1]
PLOD2	OTKOZRZP	Supportive	Autosomal recessive	[2]
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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	Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A. 2004 Dec 1;131(2):115-20. doi: 10.1002/ajmg.a.30231.