Details of Disease

General Information of Disease (ID: DISOB4HV)

• Disease Name: Spondylocostal dysostosis 5
• Synonyms: polydysspondyly; Spondylothoracic Dysplasia; spondylocostal dysplasia; TBX6 spondylocostal dysostosis; scoliosis, congenital, with or without rib anomalies; spondylocostal dysostosis 5; spondylocostal dysostosis type 5; costovertebral segmentation anomalies; SCDO5; spondylothoracic dysostosis; spondylocostal dysostosis caused by mutation in TBX6
• Definition: Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.|May be AD or AR
• Disease Hierarchy:
  DISTPWFK: Spondylocostal dysostosis
  DISOB4HV: Spondylocostal dysostosis 5
• Disease Identifiers:
  MONDO ID: MONDO_0007389
  UMLS CUI: C4083048
  OMIM ID: 122600
  MedGen ID: 901825

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MESP2	OT7H4LYA	Disputed	Genetic Variation	[1]
TBX6	OTW1Q8RM	Moderate	Semidominant	[2]
RIPPLY2	OTDEEDLH	Strong	Biomarker	[3]

References

• [1] Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008 Jun;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. Epub 2008 May 15.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [3] Ripply2 is essential for precise somite formation during mouse early development.FEBS Lett. 2007 Jun 12;581(14):2691-6. doi: 10.1016/j.febslet.2007.05.017. Epub 2007 May 21.