| H00514 | |
| H number | H00514 |
| Name | Bruck syndrome |
| Description | Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita. |
| Category | Congenital malformation |
| Network | - |
| Gene | PLOD2 [HSA:5352] [KO:K13645] FKBP10 [HSA:60681] [KO:K09575] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.KY ICD-10: Q78.0 MeSH: C537406 C537407 OMIM: 609220 |
| Reference | PMID:15523624 AUTHORS Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L TITLE Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. JOURNAL Am J Med Genet A 131:115-20 (2004) DOI:10.1002/ajmg.a.30231 PMID:21567934 AUTHORS Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS TITLE Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. JOURNAL Am J Med Genet A 155A:1448-52 (2011) DOI:10.1002/ajmg.a.34025 |