Details of Disease | DrugMAP

General Information of Disease (ID: DISYNAVB)

Disease Name	Singleton-Merten dysplasia
Synonyms	syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition; widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness; SM syndrome; SGMRT1; Merten-Singleton syndrome; Singleton Merten syndrome; singleton Merten syndrome; Singleton-Merten syndrome
Definition	Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Disease Hierarchy	DISKP5TO: Type 1 interferonopathy of childhood DIS8I9FS: Hereditary disorder of connective tissue DISYNAVB: Singleton-Merten dysplasia
Disease Identifiers	MONDO ID MONDO_0008429 MESH ID C537343 UMLS CUI C0432254 MedGen ID 98481 Orphanet ID 85191 SNOMED CT ID 254114000

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 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFIH1	OTZA2AHA	Supportive	Autosomal dominant	[2]
RIGI	OTFIIC43	Supportive	Autosomal dominant	[3]
NFATC4	OTTDCUAO	Strong	Genetic Variation	[4]
PLAAT4	OTI66SAJ	Strong	Genetic Variation	[4]
ROBO3	OTPVG40S	Strong	Genetic Variation	[4]
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References

1	DDX58 and Classic Singleton-Merten Syndrome. J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20.
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.
3	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.
4	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.