Details of Disease

General Information of Disease (ID: DIS84O7T)

• Disease Name: Heart valve disorder
• Synonyms: valvular heart disorder; valvular heart disease; heart valve disorder; disorder of heart valve; disorder of cardial valve; disease or disorder of cardial valve; disease of cardial valve; cardial valve disease or disorder; cardial valve disease
• Definition: A disease involving the cardial valve.
• Disease Hierarchy:
  DISWD40R: Disease
  DISVO1I5: Cardiac disease
  DIS84O7T: Heart valve disorder
• Disease Identifiers:
  MONDO ID: MONDO_0002869
  MESH ID: D006349
  UMLS CUI: C0018824
  MedGen ID: 5463
  SNOMED CT ID: 368009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 18 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CASP3	TTPF2QI	moderate	Biomarker	[1]
CCL2	TTNAY0P	moderate	Biomarker	[1]
COL18A1	TT63DI9	moderate	Biomarker	[1]
FCGR1A	TTZK4I3	moderate	Biomarker	[1]
IL18	TTRICUF	moderate	Biomarker	[1]
ITGB2	TTIJWR7	moderate	Biomarker	[1]
JAK2	TTRMX3V	moderate	Biomarker	[1]
LCN2	TTKTLAI	moderate	Biomarker	[1]
NOTCH1	TTB1STW	moderate	Biomarker	[2]
PTPN6	TT369M5	moderate	Biomarker	[1]
SPN	TTOZAX0	moderate	Biomarker	[1]
SPP1	TT8ME6I	moderate	Biomarker	[1]
COL1A2	TTUABC1	Strong	Biomarker	[3]
FGFR1	TTRLW2X	Strong	Altered Expression	[4]
HCN2	TT9EUT4	Strong	Altered Expression	[5]
HTR2B	TT0K1SC	Strong	Therapeutic	[6]
IDS	TTNY2AP	Definitive	Altered Expression	[7]
VKORC1	TTEUC8H	Definitive	Genetic Variation	[8]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BGLAP	OTK1YLWQ	moderate	Biomarker	[1]
C6	OTCKR304	moderate	Biomarker	[1]
COL1A1	OTI31178	moderate	Biomarker	[1]
LSP1	OTSPSIFO	moderate	Biomarker	[1]
LY86	OTTZB64A	moderate	Biomarker	[1]
PCDHA9	OTMDYFZR	moderate	Biomarker	[9]
PYCARD	OT67RON3	moderate	Biomarker	[1]
RIPK3	OTL1D484	moderate	Biomarker	[1]
TIMP1	OTOXC51H	moderate	Biomarker	[1]
ADAMTSL2	OTAXNV2U	Strong	Biomarker	[10]
KCNIP2	OTY4BLOJ	Strong	Altered Expression	[5]
ADAMTS19	OTEG5Q2G	Definitive	Biomarker	[11]
CNMD	OTHND8EL	Definitive	Biomarker	[12]
KCNK1	OTBXPTKX	Definitive	Altered Expression	[13]
TRIM72	OTFAFXPC	Definitive	Biomarker	[14]

References

• [1] Raloxifene attenuates Gas6 and apoptosis in experimental aortic valve disease in renal failure.Am J Physiol Heart Circ Physiol. 2011 May;300(5):H1829-40. doi: 10.1152/ajpheart.00240.2010. Epub 2011 Feb 18.
• [2] Inhibitory role of Notch1 in calcific aortic valve disease.PLoS One. 2011;6(11):e27743. doi: 10.1371/journal.pone.0027743. Epub 2011 Nov 16.
• [3] Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet. 2004 May;74(5):917-30. doi: 10.1086/420794. Epub 2004 Apr 9.
• [4] Monoclonal antibody targeting of fibroblast growth factor receptor 1c causes cardiac valvulopathy in rats.Toxicol Appl Pharmacol. 2018 Sep 15;355:147-155. doi: 10.1016/j.taap.2018.06.033. Epub 2018 Jul 2.
• [5] Remodeling of ion channel expression in patients with chronic atrial fibrillation and mitral valvular heart disease.Korean J Intern Med. 2010 Dec;25(4):377-85. doi: 10.3904/kjim.2010.25.4.377. Epub 2010 Nov 27.
• [6] Cyproheptadine prevents pergolide-induced valvulopathy in rats: an echocardiographic and histopathological study.Am J Physiol Heart Circ Physiol. 2009 Jun;296(6):H1940-8. doi: 10.1152/ajpheart.01177.2008. Epub 2009 Apr 3.
• [7] Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.Hum Mol Genet. 2017 May 1;26(9):1643-1655. doi: 10.1093/hmg/ddx069.
• [8] VKORC1 -1639G/A and 1173 C/T Genetic Polymorphisms Influence Individual Differences in Warfarin Maintenance Dose.Genet Test Mol Biomarkers. 2015 Sep;19(9):488-93. doi: 10.1089/gtmb.2015.0097. Epub 2015 Jul 13.
• [9] The complex genetics of hypoplastic left heart syndrome.Nat Genet. 2017 Jul;49(7):1152-1159. doi: 10.1038/ng.3870. Epub 2017 May 22.
• [10] ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.
• [11] Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.Nat Genet. 2020 Jan;52(1):40-47. doi: 10.1038/s41588-019-0536-2. Epub 2019 Dec 16.
• [12] Chondromodulin-I maintains cardiac valvular function by preventing angiogenesis.Nat Med. 2006 Oct;12(10):1151-9. doi: 10.1038/nm1476. Epub 2006 Sep 17.
• [13] Human atrial ion channel and transporter subunit gene-expression remodeling associated with valvular heart disease and atrial fibrillation.Circulation. 2005 Jul 26;112(4):471-81. doi: 10.1161/CIRCULATIONAHA.104.506857. Epub 2005 Jul 18.
• [14] MG 53 Protein Protects Aortic Valve Interstitial Cells From Membrane Injury and Fibrocalcific Remodeling.J Am Heart Assoc. 2019 Feb 19;8(4):e009960. doi: 10.1161/JAHA.118.009960.