KEGG DISEASE: Boomerang dysplasia

KEGG

DISEASE: Boomerang dysplasia

Entry

H02067                      Disease

Name

Boomerang dysplasia

Description

Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang like aspect of the long tubular bones. BD is caused by mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.

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
    H02067  Boomerang dysplasia

Pathway

MAPK signaling pathway

Focal adhesion

Gene

FLNB [HSA:2317] [KO:K27392]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP

Title

Mutations in FLNB cause boomerang dysplasia.

Journal

J Med Genet 42:e43 (2005)
DOI:10.1136/jmg.2004.029967

Reference

Authors

Wessels MW, Den Hollander NS, De Krijger RR, Bonife L, Superti-Furga A, Nikkels PG, Willems PJ

Title

Prenatal diagnosis of boomerang dysplasia.

Journal

Am J Med Genet A 122A:148-54 (2003)
DOI:10.1002/ajmg.a.20239

LinkDB

» Japanese version

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