Details of Disease

General Information of Disease (ID: DISKLYD7)

• Disease Name: Aortic valve disorder
• Synonyms: disorder of aortic valve; disease or disorder of aortic valve; disease of aortic valve; aortic valve disorder; aortic valve disease or disorder; aortic valve disease
• Definition: A disease involving the aortic valve.
• Disease Hierarchy:
  DISWD40R: Disease
  DIS84O7T: Heart valve disorder
  DISKXISV: Aortic disorder
  :
  DISKLYD7: Aortic valve disorder
• Disease Identifiers:
  MONDO ID: MONDO_0003803
  MESH ID: D000082862
  UMLS CUI: C1260873
  MedGen ID: 226776
  SNOMED CT ID: 8722008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMAD6	TTON5JB	Disputed	GermlineCausalMutation	[1]
CDH11	TTRGWZC	Strong	Biomarker	[2]
LPA	TTU9LGY	Strong	Genetic Variation	[3]
NOTCH1	TTB1STW	Strong	Altered Expression	[4]
ENPP1	TTZTIWS	Definitive	Biomarker	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC20A1	DTMULXV	Strong	Biomarker	[6]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CNN2	OTH3CSXA	Strong	Genetic Variation	[7]
EMILIN1	OT94R6M1	Strong	Genetic Variation	[8]
GATA5	OTO81B63	Strong	GermlineCausalMutation	[9]
MATN2	OTVDR68G	Strong	Biomarker	[10]
PLPP3	OTSSF7BK	Strong	Posttranslational Modification	[11]
TMEM201	OTZBZ4MC	Strong	Biomarker	[12]
TNFAIP6	OT1SLUZH	Strong	Biomarker	[13]
NKX2-5	OTS1SAWM	Definitive	GermlineCausalMutation	[14]
TRIM72	OTFAFXPC	Definitive	Biomarker	[15]

References

• [1] Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat. 2012 Apr;33(4):720-7. doi: 10.1002/humu.22030. Epub 2012 Feb 14.
• [2] Cadherin-11 as a regulator of valve myofibroblast mechanobiology.Am J Physiol Heart Circ Physiol. 2018 Dec 1;315(6):H1614-H1626. doi: 10.1152/ajpheart.00277.2018. Epub 2018 Oct 25.
• [3] Biology, pathophysiology and current therapies that affect lipoprotein (a) levels.J Mol Cell Cardiol. 2019 Jun;131:1-11. doi: 10.1016/j.yjmcc.2019.04.005. Epub 2019 Apr 12.
• [4] Altered DNA Methylation of Long Noncoding RNA H19 in Calcific Aortic Valve Disease Promotes Mineralization by Silencing NOTCH1.Circulation. 2016 Dec 6;134(23):1848-1862. doi: 10.1161/CIRCULATIONAHA.116.023116. Epub 2016 Oct 27.
• [5] Inhibition of ectonucleotidase with ARL67156 prevents the development of calcific aortic valve disease in warfarin-treated rats.Eur J Pharmacol. 2012 Aug 15;689(1-3):139-46. doi: 10.1016/j.ejphar.2012.05.016. Epub 2012 May 31.
• [6] High expression of the Pi-transporter SLC20A1/Pit1 in calcific aortic valve disease promotes mineralization through regulation of Akt-1. PLoS One. 2013;8(1):e53393. doi: 10.1371/journal.pone.0053393. Epub 2013 Jan 4.
• [7] Deletion of calponin 2 attenuates the development of calcific aortic valve disease in ApoE(-/-) mice.J Mol Cell Cardiol. 2018 Aug;121:233-241. doi: 10.1016/j.yjmcc.2018.07.249. Epub 2018 Jul 24.
• [8] Proteomic Alterations Associated with Biomechanical Dysfunction are Early Processes in the Emilin1 Deficient Mouse Model of Aortic Valve Disease.Ann Biomed Eng. 2017 Nov;45(11):2548-2562. doi: 10.1007/s10439-017-1899-0. Epub 2017 Aug 15.
• [9] GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med. 2014 May;33(5):1219-26. doi: 10.3892/ijmm.2014.1700. Epub 2014 Mar 14.
• [10] ADAMTS5 Deficiency in Calcified Aortic Valves Is Associated With Elevated Pro-Osteogenic Activity in Valvular Interstitial Cells.Arterioscler Thromb Vasc Biol. 2017 Jul;37(7):1339-1351. doi: 10.1161/ATVBAHA.117.309021. Epub 2017 May 25.
• [11] DNA methylation of a PLPP3 MIR transposon-based enhancer promotes an osteogenic programme in calcific aortic valve disease.Cardiovasc Res. 2018 Sep 1;114(11):1525-1535. doi: 10.1093/cvr/cvy111.
• [12] Secreted Klotho Attenuates Inflammation-Associated Aortic Valve Fibrosis in Senescence-Accelerated Mice P1.Hypertension. 2018 May;71(5):877-885. doi: 10.1161/HYPERTENSIONAHA.117.10560. Epub 2018 Mar 26.
• [13] Dysregulation of hyaluronan homeostasis during aortic valve disease.Matrix Biol. 2017 Oct;62:40-57. doi: 10.1016/j.matbio.2016.11.003. Epub 2016 Nov 15.
• [14] A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Am J Cardiol. 2014 Dec 15;114(12):1891-5. doi: 10.1016/j.amjcard.2014.09.028. Epub 2014 Sep 28.
• [15] 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.