KEGG   DISEASE: H00484Help
Entry
H00484                      Disease                                

Name
Other brachydactylies, including:
Proximal symphalangism;
Multiple synostosis syndrome
Description
Proximal symphalangism is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.
Category
Skeletal dysplasia; Developmental disorder
BRITE hierarchy
Pathway
TGF-beta signaling pathway
MAPK signaling pathway
Regulation of actin cytoskeleton
Gene
GDF5 [HSA:8200] [KO:K04664]
NOG [HSA:9241] [KO:K04658]
FGF9 [HSA:2254] [KO:K04358]
Other DBs
Reference
PMID:19790289 (description, gene)
  Authors
Mundlos S
  Title
The brachydactylies: a molecular disease family.
  Journal
Clin Genet 76:123-36 (2009)
Reference
PMID:18283415 (description, gene)
  Authors
Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WH, Luo Y, Zhang X
  Title
Novel point mutations in GDF5 associated with two distinct limb malformations in  Chinese: brachydactyly type C and proximal symphalangism.
  Journal
J Hum Genet 53:368-74 (2008)
Reference
PMID:17994231 (description, gene)
  Authors
Plett SK, Berdon WE, Cowles RA, Oklu R, Campbell JB
  Title
Cushing proximal symphalangism and the NOG and GDF5 genes.
  Journal
Pediatr Radiol 38:209-15 (2008)
Reference
PMID:7428777 (description)
  Authors
Pedersen JC, Fryns JP, Carpentier G, Heremans G, Van den Berghe H
  Title
Multiple synostosis syndrome.
  Journal
Eur J Pediatr 134:273-5 (1980)
Reference
  Authors
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D
  Title
GDF5 is a second locus for multiple-synostosis syndrome.
  Journal
Am J Hum Genet 78:708-12 (2006)
Reference
  Authors
Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG
  Title
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
  Journal
Am J Hum Genet 85:53-63 (2009)

» Japanese version

DBGET integrated database retrieval system