Details of Disease

General Information of Disease (ID: DISBYX0D)

Disease Name Singleton-Merten syndrome 2
Synonyms SGMRT2; singleton-Merten syndrome 2; singleton-Merten syndrome type 2; singleton-Merten dysplasia caused by mutation in DDX58; DDX58 singleton-Merten dysplasia
Definition Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DISYNAVB: Singleton-Merten dysplasia
DISBYX0D: Singleton-Merten syndrome 2
Disease Identifiers
MONDO ID
MONDO_0014575
UMLS CUI
C4225380
OMIM ID
616298
MedGen ID
907372

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
DDX58 TTVB0O3 Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NFATC4 OTTDCUAO Strong Genetic Variation [1]
RIGI OTFIIC43 Strong Autosomal dominant [2]
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References

1 A GTPase-activating protein-binding protein (G3BP1)/antiviral protein relay conveys arteriosclerotic Wnt signals in aortic smooth muscle cells.J Biol Chem. 2018 May 25;293(21):7942-7968. doi: 10.1074/jbc.RA118.002046. Epub 2018 Apr 6.
2 Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 5;96(2):266-74. doi: 10.1016/j.ajhg.2014.11.019. Epub 2015 Jan 22.