Details of Disease | DrugMAP

General Information of Disease (ID: DIS7OT0S)

Disease Name	Autosomal dominant spondylocostal dysostosis
Synonyms	spondylocostal dysostosis, autosomal dominant; autosomal dominant spondylocostal dysplasia
Definition	Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
Disease Hierarchy	DISTPWFK: Spondylocostal dysostosis DIS3HIWD: Autosomal dominant disease DIS7OT0S: Autosomal dominant spondylocostal dysostosis
Disease Identifiers	MONDO ID MONDO_0015826 UMLS CUI C4274761 MedGen ID 902919 Orphanet ID 1797 SNOMED CT ID 716232002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

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 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBX6	OTW1Q8RM	Supportive	Autosomal dominant	[2]
RIPPLY2	OTDEEDLH	Strong	Biomarker	[3]
------------------------------------------------------------------------------------

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	Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Hum Mol Genet. 2013 Apr 15;22(8):1625-31. doi: 10.1093/hmg/ddt012. Epub 2013 Jan 17.
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.