KEGG   DISEASE: Multiple synostosis syndromeHelp
Entry
H00484                      Disease                                

Name
Multiple synostosis syndrome
Description
Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00484  Multiple synostosis syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    Congenital deformities of fingers or toes
     LB90  Joint formation defects
      H00484  Multiple synostosis syndrome
BRITE hierarchy
Pathway
hsa04350  TGF-beta signaling pathway
hsa04010  MAPK signaling pathway
hsa04810  Regulation of actin cytoskeleton
Gene
(SYNS1) NOG [HSA:9241] [KO:K04658]
(SYNS2) GDF5 [HSA:8200] [KO:K04664]
(SYNS3) FGF9 [HSA:2254] [KO:K04358]
Other DBs
ICD-11: LB90.Y
ICD-10: Q78.8
MeSH: C536943 C537380 C567839
OMIM: 186500 610017 612961
Reference
PMID:7428777
  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)
DOI:10.1007/BF00441486
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)
DOI:10.1086/503204
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)
DOI:10.1016/j.ajhg.2009.06.007

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