Details of Disease

General Information of Disease (ID: DISR3NXE)

Disease Name Spondylocostal dysostosis 2, autosomal recessive
Synonyms spondylocostal dysostosis 2; SCDO2; spondylocostal dysostosis 2, autosomal recessive
Disease Hierarchy
DISAJI27: Autosomal recessive spondylocostal dysostosis
DISTPWFK: Spondylocostal dysostosis
DISR3NXE: Spondylocostal dysostosis 2, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0012097
MESH ID
C535781
UMLS CUI
C1837549
OMIM ID
608681
MedGen ID
332481

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 Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HES7 OT6F9R7P Strong Genetic Variation [2]
RIPPLY2 OTDEEDLH Strong Biomarker [3]
TBX6 OTW1Q8RM Strong Biomarker [4]
MESP2 OT7H4LYA Definitive Autosomal recessive [1]
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References

1 Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet. 2004 Jun;74(6):1249-54. doi: 10.1086/421053. Epub 2004 Apr 30.
2 Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.PLoS One. 2015 Feb 6;10(2):e0117055. doi: 10.1371/journal.pone.0117055. eCollection 2015.
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.