KEGG   DISEASE: Spondylocostal dysostosis
Entry
H00517                      Disease                                
Name
Spondylocostal dysostosis
Description
Spondylocostal dysostosis (SCDO) 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
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
    H00517  Spondylocostal dysostosis
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06511  NOTCH signaling
   H00517  Spondylocostal dysostosis
Pathway
hsa04330  Notch signaling pathway
Network
nt06511 NOTCH signaling
Gene
(SCDO1) DLL3 [HSA:10683] [KO:K06051]
(SCDO2) MESP2 [HSA:145873] [KO:K09076]
(SCDO3) LNFG [HSA:3955] [KO:K05948]
(SCDO4) HES7 [HSA:84667] [KO:K09087]
(SCDO5) TBX6 [HSA:6911] [KO:K10180]
(SCDO6) RIPPLY2 [HSA:134701]
Other DBs
ICD-11: LD24.H
ICD-10: Q76.8
MeSH: C537565
OMIM: 277300 608681 609813 613686 122600 616566
Reference
PMID:19995916
  Authors
Zanotti S, Canalis E
  Title
Notch and the skeleton.
  Journal
Mol Cell Biol 30:886-96 (2010)
DOI:10.1128/MCB.01285-09
Reference
PMID:17600784
  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)
DOI:10.1002/bdrc.20090
Reference
PMID:20087400
  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)
DOI:10.1038/ejhg.2009.241
Reference
PMID:23335591
  Authors
Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL
  Title
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
  Journal
Hum Mol Genet 22:1625-31 (2013)
DOI:10.1093/hmg/ddt012
Reference
PMID:25343988
  Authors
McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL
  Title
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
  Journal
Hum Mol Genet 24:1234-42 (2015)
DOI:10.1093/hmg/ddu534
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