Details of Disease

General Information of Disease (ID: DIS8072R)

• Disease Name: Smith-McCort dysplasia 1
• Synonyms: SMITH-McCort dysplasia 1; SMC; Smc1; Smith-McCort dysplasia; DYM Smith-McCort dysplasia; Smith-McCort dysplasia caused by mutation in DYM; Smith-McCort dysplasia type 1; Smith-McCort dysplasia 1
• Definition: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.
• Disease Hierarchy:
  DIS18P12: Smith-McCort dysplasia
  DIS8072R: Smith-McCort dysplasia 1
• Disease Identifiers:
  MONDO ID: MONDO_0011814
  UMLS CUI: C3888088
  OMIM ID: 607326
  MedGen ID: 854757

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
TAGLN	TTDRZ9H	Limited	Genetic Variation	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1C4	DEAJN47	Strong	Biomarker	[2]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MGP	OTZWU3FU	Limited	Biomarker	[1]
MYOCD	OTSJNHTH	Limited	Altered Expression	[3]
ADAMTS9	OTV3Q0DS	Strong	Biomarker	[4]
COL15A1	OTTFKK18	Strong	Altered Expression	[5]
DYM	OTQ670WI	Strong	Autosomal recessive	[6]
LMOD1	OTZ2MEMG	Strong	Biomarker	[7]
MEOX1	OTJEMT2D	Strong	Altered Expression	[8]
MYADM	OTZTZI7P	Strong	Biomarker	[9]
OLFM2	OT7TSF7I	Strong	Altered Expression	[10]
PODN	OTV3P7P5	Strong	Altered Expression	[11]
RAB33B	OTPZ3EJL	Strong	Genetic Variation	[12]
SRF	OTW18FQN	Strong	Biomarker	[13]

References

• [1] Dissecting Molecular Mechanisms Underlying Pulmonary Vascular Smooth Muscle Cell Dedifferentiation in Pulmonary Hypertension: Role of Mutated Caveolin-1 (Cav1(F92A))-Bone Marrow Mesenchymal Stem Cells.Heart Lung Circ. 2019 Oct;28(10):1587-1597. doi: 10.1016/j.hlc.2018.08.002. Epub 2018 Sep 7.
• [2] Identification of type IV collagen exposure as a molecular imaging target for early detection of thoracic aortic dissection.Theranostics. 2018 Jan 1;8(2):437-449. doi: 10.7150/thno.22467. eCollection 2018.
• [3] Myocardin: A novel player in atherosclerosis.Atherosclerosis. 2017 Feb;257:266-278. doi: 10.1016/j.atherosclerosis.2016.12.002. Epub 2016 Dec 1.
• [4] ADAMTS9-Regulated Pericellular Matrix Dynamics Governs Focal Adhesion-Dependent Smooth Muscle Differentiation.Cell Rep. 2018 Apr 10;23(2):485-498. doi: 10.1016/j.celrep.2018.03.034.
• [5] Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.Hum Mol Genet. 2013 Dec 20;22(25):5107-20. doi: 10.1093/hmg/ddt365. Epub 2013 Aug 2.
• [6] Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet. 2003 Feb;72(2):419-28. doi: 10.1086/346176. Epub 2002 Dec 16.
• [7] Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.PLoS Genet. 2018 Nov 16;14(11):e1007755. doi: 10.1371/journal.pgen.1007755. eCollection 2018 Nov.
• [8] Mesoderm/mesenchyme homeobox gene l promotes vascular smooth muscle cell phenotypic modulation and vascular remodeling.Int J Cardiol. 2018 Jan 15;251:82-89. doi: 10.1016/j.ijcard.2017.10.098. Epub 2017 Oct 31.
• [9] Oncological miR-182-3p, a Novel Smooth Muscle Cell Phenotype Modulator, Evidences From Model Rats and Patients.Arterioscler Thromb Vasc Biol. 2016 Jul;36(7):1386-97. doi: 10.1161/ATVBAHA.115.307412. Epub 2016 May 19.
• [10] Olfactomedin 2 Regulates Smooth Muscle Phenotypic Modulation and Vascular Remodeling Through Mediating Runt-Related Transcription Factor 2 Binding to Serum Response Factor.Arterioscler Thromb Vasc Biol. 2017 Mar;37(3):446-454. doi: 10.1161/ATVBAHA.116.308606. Epub 2017 Jan 5.
• [11] Novel small leucine-rich repeat protein podocan is a negative regulator of migration and proliferation of smooth muscle cells, modulates neointima formation, and is expressed in human atheroma.Circulation. 2013 Nov 26;128(22):2351-63. doi: 10.1161/CIRCULATIONAHA.113.004634. Epub 2013 Sep 16.
• [12] A novel RAB33B mutation in Smith-McCort dysplasia.Hum Mutat. 2013 Feb;34(2):283-6. doi: 10.1002/humu.22235. Epub 2012 Nov 8.
• [13] Coronary Disease-Associated Gene TCF21 Inhibits Smooth Muscle Cell Differentiation by Blocking the Myocardin-Serum Response Factor Pathway.Circ Res. 2020 Feb 14;126(4):517-529. doi: 10.1161/CIRCRESAHA.119.315968. Epub 2019 Dec 9.