Details of Disease

General Information of Disease (ID: DIS3HQRC)

• Disease Name: Spondylocostal dysostosis 4, autosomal recessive
• Synonyms: spondylocostal dysostosis 4; SCDO4; spondylocostal dysostosis 4, autosomal recessive; autosomal recessive spondylocostal dysostosis caused by mutation in Hes7; HES7 autosomal recessive spondylocostal dysostosis; Hes7 autosomal recessive spondylocostal dysostosis; autosomal recessive spondylocostal dysostosis caused by mutation in HES7
• Definition: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.
• Disease Hierarchy:
  DISAJI27: Autosomal recessive spondylocostal dysostosis
  DIS3HQRC: Spondylocostal dysostosis 4, autosomal recessive
• Disease Identifiers:
  MONDO ID: MONDO_0013366
  UMLS CUI: C3150942
  OMIM ID: 613686
  MedGen ID: 462292

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL3	TT1C9K6	Strong	Biomarker	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HES7	OT6F9R7P	Strong	Autosomal recessive	[2]
RIPPLY2	OTDEEDLH	Strong	Biomarker	[3]
TBX6	OTW1Q8RM	Strong	Biomarker	[4]

References

• [1] Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.Development. 2002 Apr;129(7):1795-806. doi: 10.1242/dev.129.7.1795.
• [2] Dynamic expression and essential functions of Hes7 in somite segmentation. Genes Dev. 2001 Oct 15;15(20):2642-7. doi: 10.1101/gad.930601.
• [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.
• [4] Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications.Anat Embryol (Berl). 1985;173(1):111-6. doi: 10.1007/BF00707309.