KEGG DISEASE: Atelosteogenesis type I and III

KEGG

DISEASE: Atelosteogenesis type I and III

Entry

H02064                      Disease

Name

Atelosteogenesis type I and III

Description

Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. Atelosteogenesis type I (AO1) and type III (AO3) are autosomal dominant disorders caused by mutations in the gene encoding 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
    H02064  Atelosteogenesis type I and III

Pathway

MAPK signaling pathway

Focal adhesion

Gene

FLNB [HSA:2317] [KO:K27392]

Other DBs

ICD-11:

MeSH:

C535396 C579928

OMIM:

Reference

Authors

Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K

Title

Atelosteogenesis syndromes: a review, with comments on their pathogenesis.

Journal

Pediatr Radiol 27:388-96 (1997)
DOI:10.1007/s002470050154

Reference

Authors

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH

Title

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Journal

Nat Genet 36:405-10 (2004)
DOI:10.1038/ng1319

LinkDB

» Japanese version

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