MVP3
MCID: MTR083
MIFTS: 18

Mitral Valve Prolapse 3 (MVP3)

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

Aliases & Classifications for Mitral Valve Prolapse 3

MalaCards integrated aliases for Mitral Valve Prolapse 3:

Name: Mitral Valve Prolapse 3 57 6
Mitral Valve Prolapse, Myxomatous 3 57 13 70
Mitral Valve Prolapse, Myxomatous 3; Mmvp3 57
Myxomatous Mitral Valve Prolapse 3 57
Mmvp3 57
Mvp3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
age-dependent penetrance
based on report of one large 3-generation family (last curated november 2020)

Inheritance:
autosomal dominant


HPO:

31
mitral valve prolapse 3:
Inheritance autosomal dominant inheritance
Onset and clinical course age-dependent penetrance


Classifications:



External Ids:

OMIM® 57 610840
OMIM Phenotypic Series 57 PS157700
MedGen 41 C1835814
UMLS 70 C1835814

Summaries for Mitral Valve Prolapse 3

OMIM® : 57 Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance. For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (157700). (610840) (Updated 05-Apr-2021)

MalaCards based summary : Mitral Valve Prolapse 3, is also known as mitral valve prolapse, myxomatous 3. An important gene associated with Mitral Valve Prolapse 3 is DZIP1 (DAZ Interacting Zinc Finger Protein 1). Affiliated tissues include thyroid, and related phenotypes are mitral valve prolapse and mitral regurgitation

Related Diseases for Mitral Valve Prolapse 3

Symptoms & Phenotypes for Mitral Valve Prolapse 3

Human phenotypes related to Mitral Valve Prolapse 3:

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
anteriorly displaced coaptation point
mitral valve regurgitation, mild to severe
ruptured chordae (rare)

Clinical features from OMIM®:

610840 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitral Valve Prolapse 3

Search Clinical Trials , NIH Clinical Center for Mitral Valve Prolapse 3

Genetic Tests for Mitral Valve Prolapse 3

Anatomical Context for Mitral Valve Prolapse 3

MalaCards organs/tissues related to Mitral Valve Prolapse 3:

40
Thyroid

Publications for Mitral Valve Prolapse 3

Articles related to Mitral Valve Prolapse 3:

# Title Authors PMID Year
1
Primary cilia defects causing mitral valve prolapse. 57 6
31118289 2019
2
New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. 57
16172273 2005
3
Evolving concepts of cardiac valve dynamics: the continuum of development, functional structure, pathobiology, and tissue engineering. 61
18955677 2008
4
Stroke in young patients: etiopathogenesis and risk factors in different age classes. 61
15256790 2004
5
Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization. 61
14666267 2003
6
Dynamic three-dimensional reconstruction of the heart by transesophageal echocardiography. 61
10668226 1999
7
Mitral valve prolapse in persons with Down syndrome. 61
8085032 1994
8
Lack of association between thyroid function and mitral valve prolapse in Graves' disease. 61
2207441 1990
9
Electrophysiologic studies in nonsustained ventricular tachycardia: relation to underlying heart disease. 61
6685428 1983

Variations for Mitral Valve Prolapse 3

ClinVar genetic disease variations for Mitral Valve Prolapse 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DZIP1 NM_198968.4(DZIP1):c.72C>A (p.Ser24Arg) SNV Pathogenic 984961 GRCh37: 13:96294074-96294074
GRCh38: 13:95641820-95641820

Expression for Mitral Valve Prolapse 3

Search GEO for disease gene expression data for Mitral Valve Prolapse 3.

Pathways for Mitral Valve Prolapse 3

GO Terms for Mitral Valve Prolapse 3

Sources for Mitral Valve Prolapse 3

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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