Details of Disease

General Information of Disease (ID: DIS10LTO)

• Disease Name: Spondylocostal dysostosis 3, autosomal recessive
• Synonyms: spondylocostal dysostosis 3; SCOD3; SCDO3; spondylocostal dysostosis 3, autosomal recessive; autosomal recessive spondylocostal dysostosis caused by mutation in LFNG; LFNG autosomal recessive spondylocostal dysostosis
• Definition: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.
• Disease Hierarchy:
  DISAJI27: Autosomal recessive spondylocostal dysostosis
  DIS10LTO: Spondylocostal dysostosis 3, autosomal recessive
• Disease Identifiers:
  MONDO ID: MONDO_0012349
  MESH ID: C535781
  UMLS CUI: C1853296
  OMIM ID: 609813
  MedGen ID: 377871

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
RIPPLY2	OTDEEDLH	Strong	Biomarker	[2]
TBX6	OTW1Q8RM	Strong	Biomarker	[3]
LFNG	OTPSUBN2	Definitive	Autosomal recessive	[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] 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.
• [3] 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.
• [4] Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet. 2006 Jan;78(1):28-37. doi: 10.1086/498879. Epub 2005 Nov 16.