KEGG   DISEASE: H00517Help
Entry
H00517                      Disease                                

Name
Spondylocostal dysostosis (SCD)
Description
Spondylocostal dysostosis (SCD) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due to mutations in Notch pathway genes.
Category
Skeletal dysplasia
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00517  Spondylocostal dysostosis
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q76  Congenital malformations of spine and bony thorax
    H00517  Spondylocostal dysostosis
BRITE hierarchy
Pathway
Notch signaling pathway
Gene
(SCD1) DLL3 [HSA:10683] [KO:K06051]
(SCD2) MESP2 [HSA:145873] [KO:K09076]
(SCD3) LNFG [HSA:3955] [KO:K05948]
(SCD4) HES7 [HSA:84667] [KO:K09087]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:19995916 (description, gene)
  Authors
Zanotti S, Canalis E
  Title
Notch and the skeleton.
  Journal
Mol Cell Biol 30:886-96 (2010)
Reference
PMID:17600784 (description, gene)
  Authors
Shifley ET, Cole SE
  Title
The vertebrate segmentation clock and its role in skeletal birth defects.
  Journal
Birth Defects Res C Embryo Today 81:121-33 (2007)
Reference
PMID:20087400 (description, gene)
  Authors
Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL
  Title
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
  Journal
Eur J Hum Genet 18:674-9 (2010)

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