CVDD
MCID: CRD220
MIFTS: 33

Cardiac Valvular Defect, Developmental (CVDD)

Categories: Genetic diseases

Aliases & Classifications for Cardiac Valvular Defect, Developmental

MalaCards integrated aliases for Cardiac Valvular Defect, Developmental:

Name: Cardiac Valvular Defect, Developmental 57 75 6
Cvdd 57 75
Heart Valve Disease 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cardiac valvular defect, developmental:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cardiac Valvular Defect, Developmental

UniProtKB/Swiss-Prot : 75 Cardiac valvular defect, developmental: An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves.

MalaCards based summary : Cardiac Valvular Defect, Developmental, is also known as cvdd, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Cardiac Valvular Defect, Developmental is PLD1 (Phospholipase D1). Affiliated tissues include heart, bone and kidney, and related phenotypes are inguinal hernia and edema

Description from OMIM: 212093

Related Diseases for Cardiac Valvular Defect, Developmental

Symptoms & Phenotypes for Cardiac Valvular Defect, Developmental

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
mitral valve prolapse
tricuspid valve prolapse
patent foramen ovale
pulmonary valve stenosis or atresia
subpulmonic stenosis
more
Cardiovascular Vascular:
small pulmonary arteries
aberrant right subclavian artery

Prenatal Manifestations:
hydrops


Clinical features from OMIM:

212093

Human phenotypes related to Cardiac Valvular Defect, Developmental:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 edema 32 HP:0000969
3 hydrops fetalis 32 HP:0001789
4 mitral valve prolapse 32 HP:0001634
5 tricuspid atresia 32 HP:0011662
6 hydronephrosis 32 HP:0000126
7 hydroureter 32 HP:0000072
8 mitral stenosis 32 HP:0001718
9 tricuspid valve prolapse 32 HP:0001704
10 tricuspid regurgitation 32 HP:0005180
11 patent foramen ovale 32 HP:0001655
12 urethral diverticulum 32 HP:0008722
13 arteria lusoria 32 HP:0031014

UMLS symptoms related to Cardiac Valvular Defect, Developmental:


angina pectoris, edema, chest pain, undiagnosed heart murmur

Drugs & Therapeutics for Cardiac Valvular Defect, Developmental

Search Clinical Trials , NIH Clinical Center for Cardiac Valvular Defect, Developmental

Genetic Tests for Cardiac Valvular Defect, Developmental

Anatomical Context for Cardiac Valvular Defect, Developmental

MalaCards organs/tissues related to Cardiac Valvular Defect, Developmental:

41
Heart, Bone, Kidney, Testes, Breast, Lung, Eye

Publications for Cardiac Valvular Defect, Developmental

Articles related to Cardiac Valvular Defect, Developmental:

(show top 50) (show all 123)
# Title Authors Year
1
Periodontal bacteria DNA findings in human cardiac tissue - Is there a link of periodontitis to heart valve disease? ( 29197463 )
2018
2
Antiphospholipid Antibodies and Heart Valve Disease in Systemic Lupus Erythematosus. ( 29549933 )
2018
3
Engineering a 3D-Bioprinted Model of Human Heart Valve Disease Using Nanoindentation-Based Biomechanics. ( 29751516 )
2018
4
Comorbid TNF-mediated heart valve disease and chronic polyarthritis share common mesenchymal cell-mediated aetiopathogenesis. ( 29475857 )
2018
5
The Right Heart-Pulmonary Circulation Unit and Left Heart Valve Disease. ( 29966640 )
2018
6
What's hot in heart valve disease 2018? ( 29334507 )
2018
7
Comprehensive microRNA profiling reveals potential augmentation of the IL1 pathway in rheumatic heart valve disease. ( 29548280 )
2018
8
Patient-Specific MRI-Based CFD for Optimizing Surgical Decision Making in Heart Valve Disease. ( 29667252 )
2018
9
Heart Valve Disease Awareness Survey 2017: what did we achieve since 2015? ( 29943272 )
2018
10
Murmur clinic: validation of a new model for detecting heart valve disease. ( 30049836 )
2018
11
Correction to: Heart Valve Disease Awareness Survey 2017: what did we achieve since 2015? ( 30155733 )
2018
12
Heart Valve Disease Predict Mortality in Hemodiaylsis Patients: A Single Center Experience. ( 30421548 )
2018
13
Clinical information has low sensitivity for postmortem diagnosis of heart valve disease. ( 28183793 )
2017
14
Standardization of adult transthoracic echocardiography reporting in agreement with recent chamber quantification, diastolic function, and heart valve disease recommendations: an expert consensus document of the European Association of Cardiovascular Imaging. ( 29045589 )
2017
15
Autoantibodies to types I and IV collagen and heart valve disease in systemic lupus erythematosus/antiphospholipid syndrome. ( 28283766 )
2017
16
What's hot in heart valve disease 2017? ( 28067716 )
2017
17
Appropriateness criteria for the use of cardiovascular imaging in heart valve disease in adults: a European Association of Cardiovascular Imaging report of literature review and current practice. ( 28586420 )
2017
18
Evaluating Health of Emerging Economies Through the Eyes of Heart Valve Disease inA theA Transcatheter Era. ( 28433490 )
2017
19
DNA methylation dysregulations in rheumatic heart valve disease. ( 28623907 )
2017
20
Cardiovascular magnetic resonance in the evaluation of heart valve disease. ( 29284450 )
2017
21
Selection of the Best of 2016 in Echocardiography in Heart Valve Disease. ( 28254138 )
2017
22
Regulation of valve interstitial cell homeostasis by mechanical deformation: implications for heart valve disease and surgical repair. ( 29046338 )
2017
23
Pregnancy and native heart valve disease. ( 27390366 )
2016
24
Detecting heart valve disease: can we do better? ( 26917654 )
2016
25
OS 01-07 CLINICAL IMPORTANCE OF COLLAGEN METABOLISM MARKERS IN RHEUMATIC HEART VALVE DISEASE IN INDIAN SUBPOPULATION. ( 27753898 )
2016
26
Prof. David S. Bach: heart valve disease. ( 27054110 )
2016
27
Multimodality imaging in heart valve disease. ( 26977308 )
2016
28
Changing causes of heart valve disease mortality in New Zealand from 1988 to 2007. ( 26914193 )
2016
29
Heart valve disease: looking back and moving forward. ( 26841326 )
2016
30
Heart valve disease in elderly Chinese population: effect of advanced age and comorbidities on treatment decision-making and outcomes. ( 27605940 )
2016
31
Aortic valve stenosis: what do people know? A heart valve disease awareness survey of over 8,800 people aged 60 or over. ( 27283409 )
2016
32
Methylphenidate: pulmonary hypertension and heart valve disease. ( 26436168 )
2015
33
The modern epidemiology of heart valve disease. ( 26541169 )
2015
34
Carcinoid Heart Valve Disease: Transcatheter Pulmonary Valve-In-Valve Implantation in Failing Biological Xenografts. ( 26182628 )
2015
35
Tricuspid Annuloplasty for Tricuspid Regurgitation Secondary to Left-Sided Heart Valve Disease: Immediate Outcomes and Risk Factors for Late Failure. ( 26777269 )
2015
36
Failing stentless Bioprostheses in patients with carcinoid heart valve disease. ( 25880286 )
2015
37
Automatic extraction of forward stroke volume using dynamic PET/CT: a dual-tracer and dual-scanner validation in patients with heart valve disease. ( 26501826 )
2015
38
Heart valve disease in general practice: a clinical overview. ( 25733443 )
2015
39
Aortic regurgitation and heart valve disease in mice. ( 26623080 )
2015
40
Spontaneous retrotransposon insertion into TNF 3'UTR causes heart valve disease and chronic polyarthritis. ( 26195802 )
2015
41
Deregulation of TNF expression can also cause heart valve disease. ( 26321488 )
2015
42
How should specialist competencies in heart valve disease be recognized? ( 25609702 )
2015
43
'Black box warning' on food and drug administration criteria for drug-induced heart valve disease? ( 25535216 )
2015
44
Heart valve disease: The role of calcidiol deficiency, elevated parathyroid hormone levels and oxidative stress in mitral and aortic valve insufficiency. ( 24192717 )
2014
45
Benfluorex: left heart valve disease very common. ( 24926516 )
2014
46
Multimodality imaging of heart valve disease. ( 24830387 )
2014
47
IgA Antiphospholipid Antibodies and Anti-Domain 1 of Beta 2 Glycoprotein 1 Antibodies are Associated with Livedo Reticularis and Heart Valve Disease in Antiphospholipid Syndrome. ( 25491686 )
2014
48
Could Hemiplegia Vegetativa Alterna be a Cerebral Sign of Heart Valve Disease? ( 28360606 )
2014
49
Animal models of organic heart valve disease. ( 22475840 )
2013
50
Assessing operative risk and benefit in elderly patients with heart valve disease. ( 23821400 )
2013

Variations for Cardiac Valvular Defect, Developmental

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Valvular Defect, Developmental:

75
# Symbol AA change Variation ID SNP ID
1 PLD1 p.His442Pro VAR_078985 rs769669104

ClinVar genetic disease variations for Cardiac Valvular Defect, Developmental:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLD1 NM_002662.4(PLD1): c.1325A> C (p.His442Pro) single nucleotide variant Pathogenic rs769669104 GRCh37 Chromosome 3, 171410135: 171410135
2 PLD1 NM_002662.4(PLD1): c.1325A> C (p.His442Pro) single nucleotide variant Pathogenic rs769669104 GRCh38 Chromosome 3, 171692345: 171692345
3 PLD1 NM_002662.4(PLD1): c.1484_1485delCA (p.Thr495Argfs) deletion Pathogenic rs778311238 GRCh37 Chromosome 3, 171406520: 171406521
4 PLD1 NM_002662.4(PLD1): c.1484_1485delCA (p.Thr495Argfs) deletion Pathogenic rs778311238 GRCh38 Chromosome 3, 171688730: 171688731
5 PLD1 NM_002662.4(PLD1): c.2882+2T> C single nucleotide variant Pathogenic rs1085307450 GRCh37 Chromosome 3, 171330067: 171330067
6 PLD1 NM_002662.4(PLD1): c.2882+2T> C single nucleotide variant Pathogenic rs1085307450 GRCh38 Chromosome 3, 171612277: 171612277

Expression for Cardiac Valvular Defect, Developmental

Search GEO for disease gene expression data for Cardiac Valvular Defect, Developmental.

Pathways for Cardiac Valvular Defect, Developmental

GO Terms for Cardiac Valvular Defect, Developmental

Sources for Cardiac Valvular Defect, Developmental

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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