MCID: MTR077
MIFTS: 18

Mitral Valve Prolapse 2

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

Aliases & Classifications for Mitral Valve Prolapse 2

MalaCards integrated aliases for Mitral Valve Prolapse 2:

Name: Mitral Valve Prolapse 2 57 75 6
Mitral Valve Prolapse, Myxomatous 2 57 75 13 73
Myxomatous Mitral Valve Prolapse 2 57 75
Mmvp2 57 75
Mvp2 57 75
Mitral Valve Prolapse, Myxomatous 2; Mmvp2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age-dependent penetrance


HPO:

32
mitral valve prolapse 2:
Inheritance autosomal dominant inheritance
Onset and clinical course age-dependent penetrance


Classifications:



External Ids:

OMIM 57 607829
MedGen 42 C1843003
MeSH 44 D008945
UMLS 73 C1843003

Summaries for Mitral Valve Prolapse 2

UniProtKB/Swiss-Prot : 75 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, is also known as mitral valve prolapse, myxomatous 2. An important gene associated with Mitral Valve Prolapse 2 is DCHS1 (Dachsous Cadherin-Related 1). Affiliated tissues include heart, and 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)

Related Diseases for Mitral Valve Prolapse 2

Symptoms & Phenotypes for Mitral Valve Prolapse 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
mitral valve prolapse
mitral valve regurgitation
thickened mitral valve leaflets
myxomatous degeneration of mitral valve leaflets


Clinical features from OMIM:

607829

Human phenotypes related to Mitral Valve Prolapse 2:

32
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 32 HP:0001634
2 mitral regurgitation 32 HP:0001653

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

Anatomical Context for Mitral Valve Prolapse 2

MalaCards organs/tissues related to Mitral Valve Prolapse 2:

41
Heart

Publications for Mitral Valve Prolapse 2

Variations for Mitral Valve Prolapse 2

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

75
# Symbol AA change Variation ID SNP ID
1 DCHS1 p.Arg2330Cys VAR_075049 rs768737101
2 DCHS1 p.Arg2513His VAR_075050 rs201457110

ClinVar genetic disease variations for Mitral Valve Prolapse 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCHS1 NM_003737.3(DCHS1): c.7538G> A (p.Arg2513His) single nucleotide variant Pathogenic rs201457110 GRCh38 Chromosome 11, 6624138: 6624138
2 DCHS1 NM_003737.3(DCHS1): c.7538G> A (p.Arg2513His) single nucleotide variant Pathogenic rs201457110 GRCh37 Chromosome 11, 6645369: 6645369
3 DCHS1 NM_003737.3(DCHS1): c.6988C> T (p.Arg2330Cys) single nucleotide variant Pathogenic rs768737101 GRCh38 Chromosome 11, 6625356: 6625356
4 DCHS1 NM_003737.3(DCHS1): c.6988C> T (p.Arg2330Cys) single nucleotide variant Pathogenic rs768737101 GRCh37 Chromosome 11, 6646587: 6646587

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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