Details of Disease | DrugMAP

General Information of Disease (ID: DISXY2LC)

Disease Name	Singleton-Merten syndrome 1
Synonyms	singleton-Merten syndrome 1; SGMRT1; IFIH1 singleton-Merten dysplasia; singleton-Merten dysplasia caused by mutation in IFIH1
Definition	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
Disease Hierarchy	DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density. DIS1WY4W: IFIH1-related type 1 interferonopathy DISYNAVB: Singleton-Merten dysplasia DISXY2LC: Singleton-Merten syndrome 1
Disease Identifiers	MONDO ID MONDO_0024535 UMLS CUI C4225427 OMIM ID 182250 MedGen ID 899946

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	Limited	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RIGI	OTFIIC43	Limited	Autosomal dominant	[1]
IFIH1	OTZA2AHA	Strong	Autosomal dominant	[2]
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References

1	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.
2	A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 5;96(2):275-82. doi: 10.1016/j.ajhg.2014.12.014. Epub 2015 Jan 22.