| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00499
|
Spondylocarpotarsal synostosis syndrome
|
... characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations.
|
Congenital malformation
|
|
FLNB (nonsense mutation) [HSA:2317] [KO:K27392]
|
|
H02048
|
Larsen syndrome
|
... 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.
|
Congenital malformation
|
|
FLNB [HSA:2317] [KO:K27392]
|
|
H02064
|
Atelosteogenesis type I and III
|
Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations ...
|
Congenital malformation
|
|
FLNB [HSA:2317] [KO:K27392]
|
|
H02067
|
Boomerang dysplasia
|
... 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.
|
Congenital malformation
|
|
FLNB [HSA:2317] [KO:K27392]
|