MVP2
MCID: MTR077
MIFTS: 23

Mitral Valve Prolapse 2 (MVP2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Mitral Valve Prolapse 2

MalaCards integrated aliases for Mitral Valve Prolapse 2:

Name: Mitral Valve Prolapse 2 57 72 29 6
Mitral Valve Prolapse, Myxomatous 2 57 72 13 70
Myxomatous Mitral Valve Prolapse 2 57 72
Mmvp2 57 72
Mvp2 57 72
Mitral Valve Prolapse, Myxomatous 2; Mmvp2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
age-dependent penetrance

Inheritance:
autosomal dominant


HPO:

31
mitral valve prolapse 2:
Inheritance autosomal dominant inheritance
Onset and clinical course age-dependent penetrance


Classifications:



External Ids:

OMIM® 57 607829
OMIM Phenotypic Series 57 PS157700
MeSH 44 D008945
MedGen 41 C1843003
UMLS 70 C1843003

Summaries for Mitral Valve Prolapse 2

UniProtKB/Swiss-Prot : 72 Mitral valve prolapse 2: A form of mitral valve prolapse, a valvular hearth disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery.

MalaCards based summary : Mitral Valve Prolapse 2, also known as mitral valve prolapse, myxomatous 2, is related to orthostatic intolerance. An important gene associated with Mitral Valve Prolapse 2 is DCHS1 (Dachsous Cadherin-Related 1). Related phenotypes are mitral valve prolapse and mitral regurgitation

OMIM® : 57 Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait. For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (157700). (607829) (Updated 05-Apr-2021)

Related Diseases for Mitral Valve Prolapse 2

Diseases in the Mitral Valve Prolapse, Familial, Autosomal Dominant family:

Mitral Valve Prolapse 1 Mitral Valve Prolapse 2
Mitral Valve Prolapse 3

Diseases related to Mitral Valve Prolapse 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orthostatic intolerance 10.1

Symptoms & Phenotypes for Mitral Valve Prolapse 2

Human phenotypes related to Mitral Valve Prolapse 2:

31
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 31 HP:0001634
2 mitral regurgitation 31 HP:0001653

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
mitral valve prolapse
mitral valve regurgitation
thickened mitral valve leaflets
myxomatous degeneration of mitral valve leaflets

Clinical features from OMIM®:

607829 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitral Valve Prolapse 2

Search Clinical Trials , NIH Clinical Center for Mitral Valve Prolapse 2

Genetic Tests for Mitral Valve Prolapse 2

Genetic tests related to Mitral Valve Prolapse 2:

# Genetic test Affiliating Genes
1 Mitral Valve Prolapse 2 29 DCHS1

Anatomical Context for Mitral Valve Prolapse 2

Publications for Mitral Valve Prolapse 2

Articles related to Mitral Valve Prolapse 2:

(show all 12)
# Title Authors PMID Year
1
Mutations in DCHS1 cause mitral valve prolapse. 57 6
26258302 2015
2
A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. 6 57
12707861 2003
3
Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis. 57
24867995 2014
4
The genetics of mitral valve prolapse. 57
17850623 2007
5
Prevalence and clinical outcome of mitral-valve prolapse. 57
10387935 1999
6
The significance of the ultrasound diagnostics in evaluation of the emboligenic pathogenesis of transient ischemic attacks. 61
23384465 2013
7
Congenital heart disease in infants of diabetic mothers: echocardiographic study. 61
14648003 2004
8
Neurovascular complications of marfan syndrome: a retrospective, hospital-based study. 61
11872887 2002
9
Adults with Williams syndrome. 61
2118770 1990
10
[Role of two-dimensional echocardiography in the diagnosis of embolic cardiopathy in patients with transient cerebral ischemia attacks]. 61
3234658 1988
11
[Malformations of the tricuspid valve associated with Fallot's tetralogy. Apropos of a series of 224 surgically treated Fallot's tetralogies]. 61
3925919 1985
12
[Cerebrovascular accident in subjects having mitral valve prolapse: 2 case reports]. 61
662604 1978

Variations for Mitral Valve Prolapse 2

ClinVar genetic disease variations for Mitral Valve Prolapse 2:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCHS1 NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) SNV Pathogenic 217871 rs768737101 GRCh37: 11:6646587-6646587
GRCh38: 11:6625356-6625356
2 DCHS1 NM_003737.4(DCHS1):c.7538G>A (p.Arg2513His) SNV Pathogenic 217870 rs201457110 GRCh37: 11:6645369-6645369
GRCh38: 11:6624138-6624138
3 DCHS1 NM_003737.4(DCHS1):c.6257del (p.Pro2086fs) Deletion Pathogenic 1028651 GRCh37: 11:6647890-6647890
GRCh38: 11:6626659-6626659
4 DCHS1 NM_003737.4(DCHS1):c.5679C>A (p.Tyr1893Ter) SNV Pathogenic 1028154 GRCh37: 11:6648591-6648591
GRCh38: 11:6627360-6627360
5 DCHS1 NM_003737.4(DCHS1):c.3785A>T (p.Glu1262Val) SNV Uncertain significance 1028650 GRCh37: 11:6652429-6652429
GRCh38: 11:6631198-6631198
6 DCHS1 NM_003737.4(DCHS1):c.3416G>C (p.Arg1139Pro) SNV Uncertain significance 1033606 GRCh37: 11:6653327-6653327
GRCh38: 11:6632096-6632096
7 DCHS1 NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser) SNV Uncertain significance 1033607 GRCh37: 11:6648461-6648461
GRCh38: 11:6627230-6627230
8 DCHS1 NM_003737.4(DCHS1):c.6209G>T (p.Arg2070Leu) SNV Uncertain significance 1033608 GRCh37: 11:6648061-6648061
GRCh38: 11:6626830-6626830
9 DCHS1 NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp) SNV Uncertain significance 1033609 GRCh37: 11:6647561-6647561
GRCh38: 11:6626330-6626330
10 DCHS1 NM_003737.4(DCHS1):c.994G>A (p.Val332Met) SNV Uncertain significance 1033610 GRCh37: 11:6661851-6661851
GRCh38: 11:6640620-6640620
11 DCHS1 NM_003737.4(DCHS1):c.4552C>T (p.Arg1518Trp) SNV Uncertain significance 983077 GRCh37: 11:6651473-6651473
GRCh38: 11:6630242-6630242
12 DCHS1 NM_003737.4(DCHS1):c.1442C>A (p.Pro481His) SNV Uncertain significance 1028152 GRCh37: 11:6661403-6661403
GRCh38: 11:6640172-6640172
13 DCHS1 NM_003737.4(DCHS1):c.4798G>T (p.Ala1600Ser) SNV Uncertain significance 1028153 GRCh37: 11:6651140-6651140
GRCh38: 11:6629909-6629909

UniProtKB/Swiss-Prot genetic disease variations for Mitral Valve Prolapse 2:

72
# Symbol AA change Variation ID SNP ID
1 DCHS1 p.Arg2330Cys VAR_075049 rs768737101
2 DCHS1 p.Arg2513His VAR_075050 rs201457110

Expression for Mitral Valve Prolapse 2

Search GEO for disease gene expression data for Mitral Valve Prolapse 2.

Pathways for Mitral Valve Prolapse 2

GO Terms for Mitral Valve Prolapse 2

Sources for Mitral Valve Prolapse 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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