Details of Disease

General Information of Disease (ID: DISNCHQ3)

Disease Name Mitral valve prolapse
Synonyms
mitral valve prolapse, myxomatous; myxomatous mitral valve prolapse; mitral leaflet syndrome; systolic click-murmur syndrome; mitral valve prolapse (disease); valve, prolapse Of mitral; barlow's syndrome; floppy mitral valve; prolapse, mitral valve; mitral valve prolapse syndrome; mitral valve prolapse
Definition
A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.
Disease Hierarchy
:
DISNCHQ3: Mitral valve prolapse
Disease Identifiers
MONDO ID
MONDO_0004910
MESH ID
D008945
UMLS CUI
C0026267
MedGen ID
7671
HPO ID
HP:0001634
SNOMED CT ID
409712001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AGTR1 TT8DBY3 Strong Genetic Variation [1]
FLNA TTSTRZY Strong Genetic Variation [2]
SLC6A2 TTAWNKZ Strong GermlineCausalMutation [3]
TGFBR1 TTP4520 Strong Biomarker [2]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL3A1 OTT1EMLM Limited Genetic Variation [4]
DCHS1 OTW3GX62 Limited Genetic Variation [5]
GLIS1 OTBDNB26 Limited Biomarker [6]
SMG6 OTRCEJQL Limited Genetic Variation [7]
B3GAT3 OTDSN5XF moderate Altered Expression [8]
FBN1 OTYCJT63 moderate Genetic Variation [9]
LMCD1 OT3AWE8O moderate Biomarker [7]
LTBP3 OTME98V7 Strong Biomarker [10]
MVP OTJGHJRB Strong Genetic Variation [1]
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⏷ Show the Full List of 9 DOT(s)

References

1 AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients.Int J Cardiol. 2008 Jan 24;123(3):293-7. doi: 10.1016/j.ijcard.2006.12.015. Epub 2007 Mar 26.
2 Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.Am J Med Genet A. 2014 Jan;164A(1):113-9. doi: 10.1002/ajmg.a.36211. Epub 2013 Nov 15.
3 Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. N Engl J Med. 2000 Feb 24;342(8):541-9. doi: 10.1056/NEJM200002243420803.
4 A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.J Vasc Surg. 2020 Jan;71(1):149-157. doi: 10.1016/j.jvs.2019.04.487. Epub 2019 Jul 26.
5 Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.Mol Genet Genomic Med. 2018 Jan;6(1):114-120. doi: 10.1002/mgg3.347. Epub 2017 Dec 10.
6 Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse.Circ Genom Precis Med. 2019 May;12(5):e002497. doi: 10.1161/CIRCGEN.119.002497.
7 Genetic association analyses highlight biological pathways underlying mitral valve prolapse.Nat Genet. 2015 Oct;47(10):1206-11. doi: 10.1038/ng.3383. Epub 2015 Aug 24.
8 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet. 2011 Jul 15;89(1):15-27. doi: 10.1016/j.ajhg.2011.05.021.
9 Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.BMC Musculoskelet Disord. 2016 Feb 15;17:79. doi: 10.1186/s12891-016-0935-9.
10 New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.Am J Med Genet A. 2015 Jun;167(6):1396-9. doi: 10.1002/ajmg.a.37049. Epub 2015 Apr 21.