KEGG DISEASE: Atelosteogenesis type I and III

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-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H02064  Atelosteogenesis type I and III

Pathway

hsa04010

MAPK signaling pathway

hsa04510

Focal adhesion

hsa04518

Integrin signaling

Network

nt06548 Integrin signaling

Gene

FLNB [HSA:2317] [KO:K27392]

Other DBs

ICD-11:

LD24.E

MeSH:

C535396 C579928

OMIM:

108720 108721

Reference

PMID:9133349

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

PMID:14991055

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

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-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H02067  Boomerang dysplasia

Pathway

hsa04010

MAPK signaling pathway

hsa04510

Focal adhesion

hsa04518

Integrin signaling

Network

nt06548 Integrin signaling

Gene

FLNB [HSA:2317] [KO:K27392]

Other DBs

ICD-11:

LD24.E

MeSH:

C536573

OMIM:

112310

Reference

PMID:15994868

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

PMID:12955767

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

DISEASE: Larsen syndrome

Entry

H02048                      Disease

Name

Larsen syndrome

Subgroup

Larsen-like syndrome [DS:H01498]

Description

Larsen syndrome (LRS) is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.