KEGG   DISEASE: H00461Help
Entry
H00461                      Disease                                

Name
FLNB-related disorders, including: ;
Atelostogenesis, type I;
Boomerang dysplasia;
Atelosteogenesis, type III;
Larsen syndrome
Description
The FLNB-related disorders include mild to severe osteochondrodysplasias with congenital joint dislocation. AOI and AOIII are lethal or semilethal disorders. Mutations in the gene encoding filamin B (FLNB) are associated with these disorders.
Category
Skeletal dysplasia
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00461  Atelostogenesis
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q68  Other congenital musculoskeletal deformities
    H00461  FLNB-related disorders
   Q78  Other osteochondrodysplasias
    H00461  FLNB-related disorders
  Q80-Q89  Other congenital malformations
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00461  FLNB-related disorders
BRITE hierarchy
Gene
FLNB [HSA:2317] [KO:K04437]
Other DBs
Reference
PMID:20301736 (description, gene)
  Authors
Robertson S
  Title
FLNB-Related Disorders
  Journal
(1993)
Reference
PMID:16752402 (description, gene)
  Authors
Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D
  Title
Mutations in two regions of FLNB result in atelosteogenesis I and III.
  Journal
Hum Mutat. 27:705-10 (2006)
Reference
PMID:9409862 (description)
  Authors
Nishimura G, Horiuchi T, Kim OH, Sasamoto Y
  Title
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.
  Journal
Am J Med Genet 73:132-8 (1997)

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