KEGG DISEASE: Bruck syndrome

DISEASE: Bruck syndrome

Entry

H00514                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00514  Bruck syndrome

Gene

(BRKS1) FKBP10 [HSA:60681] [KO:K09575]
(BRKS2) PLOD2 [HSA:5352] [KO:K13645]

Other DBs

ICD-11:

LD24.KY

MeSH:

C537406 C537407

OMIM:

259450 609220

Reference

PMID:21567934 (BRKS1)

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

Reference

PMID:15523624 (BRKS2)

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

LinkDB

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