MCID: CRD220
MIFTS: 30

Cardiac Valvular Defect, Developmental

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 Diseases 44
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, also known as cvdd, is related to heart valve disease and coumarin resistance, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Cardiac Valvular Defect, Developmental is PLD1 (Phospholipase D1). Affiliated tissues include heart, lung and bone, and related phenotypes are inguinal hernia and edema

Description from OMIM: 212093

Related Diseases for Cardiac Valvular Defect, Developmental

Diseases related to Cardiac Valvular Defect, Developmental via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 heart valve disease 12.5
2 coumarin resistance 10.8
3 dilated cardiomyopathy 10.8
4 rheumatic heart disease 10.8
5 sick sinus syndrome 10.8
6 systemic lupus erythematosus 10.0
7 lupus erythematosus 10.0
8 aging 9.8
9 pulmonary hypertension 9.8
10 antiphospholipid syndrome 9.8
11 rheumatoid arthritis 9.6
12 patent ductus arteriosus 1 9.6
13 aortic valve disease 2 9.6
14 hyperprolactinemia 9.6
15 arthritis 9.6
16 infective endocarditis 9.6
17 endocarditis 9.6
18 acromegaly 9.6
19 aortic valve insufficiency 9.6
20 periodontitis 9.6
21 type i 9.6

Graphical network of the top 20 diseases related to Cardiac Valvular Defect, Developmental:



Diseases related to 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 12)
# 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 hydronephrosis 32 HP:0000126
6 hydroureter 32 HP:0000072
7 mitral stenosis 32 HP:0001718
8 tricuspid valve prolapse 32 HP:0001704
9 tricuspid regurgitation 32 HP:0005180
10 patent foramen ovale 32 HP:0001655
11 urethral diverticulum 32 HP:0008722
12 arteria lusoria 32 HP:0031014

UMLS symptoms related to Cardiac Valvular Defect, Developmental:


angina pectoris, chest pain, edema, undiagnosed heart murmur

Drugs & Therapeutics for Cardiac Valvular Defect, Developmental

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

Cochrane evidence based reviews: heart valve diseases

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, Lung, Bone, Eye

Publications for Cardiac Valvular Defect, Developmental

Articles related to Cardiac Valvular Defect, Developmental:

(show top 50) (show all 119)
# 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
Clinical information has low sensitivity for postmortem diagnosis of heart valve disease. ( 28183793 )
2017
11
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
12
Autoantibodies to types I and IV collagen and heart valve disease in systemic lupus erythematosus/antiphospholipid syndrome. ( 28283766 )
2017
13
What's hot in heart valve disease 2017? ( 28067716 )
2017
14
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
15
Evaluating Health of Emerging Economies Through the Eyes of Heart Valve Disease inA theA Transcatheter Era. ( 28433490 )
2017
16
DNA methylation dysregulations in rheumatic heart valve disease. ( 28623907 )
2017
17
Cardiovascular magnetic resonance in the evaluation of heart valve disease. ( 29284450 )
2017
18
Selection of the Best of 2016 in Echocardiography in Heart Valve Disease. ( 28254138 )
2017
19
Regulation of valve interstitial cell homeostasis by mechanical deformation: implications for heart valve disease and surgical repair. ( 29046338 )
2017
20
Pregnancy and native heart valve disease. ( 27390366 )
2016
21
Detecting heart valve disease: can we do better? ( 26917654 )
2016
22
OS 01-07 CLINICAL IMPORTANCE OF COLLAGEN METABOLISM MARKERS IN RHEUMATIC HEART VALVE DISEASE IN INDIAN SUBPOPULATION. ( 27753898 )
2016
23
Prof. David S. Bach: heart valve disease. ( 27054110 )
2016
24
Multimodality imaging in heart valve disease. ( 26977308 )
2016
25
Changing causes of heart valve disease mortality in New Zealand from 1988 to 2007. ( 26914193 )
2016
26
Heart valve disease: looking back and moving forward. ( 26841326 )
2016
27
Heart valve disease in elderly Chinese population: effect of advanced age and comorbidities on treatment decision-making and outcomes. ( 27605940 )
2016
28
Aortic valve stenosis: what do people know? A heart valve disease awareness survey of over 8,800 people aged 60 or over. ( 27283409 )
2016
29
OS 01-07 CLINICAL IMPORTANCE OF COLLAGEN METABOLISM MARKERS IN RHEUMATIC HEART VALVE DISEASE IN INDIAN SUBPOPULATION. ( 27643244 )
2016
30
Methylphenidate: pulmonary hypertension and heart valve disease. ( 26436168 )
2015
31
The modern epidemiology of heart valve disease. ( 26541169 )
2015
32
Carcinoid Heart Valve Disease: Transcatheter Pulmonary Valve-In-Valve Implantation in Failing Biological Xenografts. ( 26182628 )
2015
33
Tricuspid Annuloplasty for Tricuspid Regurgitation Secondary to Left-Sided Heart Valve Disease: Immediate Outcomes and Risk Factors for Late Failure. ( 26777269 )
2015
34
Failing stentless Bioprostheses in patients with carcinoid heart valve disease. ( 25880286 )
2015
35
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
36
Heart valve disease in general practice: a clinical overview. ( 25733443 )
2015
37
Aortic regurgitation and heart valve disease in mice. ( 26623080 )
2015
38
Spontaneous retrotransposon insertion into TNF 3'UTR causes heart valve disease and chronic polyarthritis. ( 26195802 )
2015
39
Deregulation of TNF expression can also cause heart valve disease. ( 26321488 )
2015
40
How should specialist competencies in heart valve disease be recognized? ( 25609702 )
2015
41
'Black box warning' on food and drug administration criteria for drug-induced heart valve disease? ( 25535216 )
2015
42
Heart valve disease: The role of calcidiol deficiency, elevated parathyroid hormone levels and oxidative stress in mitral and aortic valve insufficiency. ( 24192717 )
2014
43
Benfluorex: left heart valve disease very common. ( 24926516 )
2014
44
Multimodality imaging of heart valve disease. ( 24830387 )
2014
45
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
46
Animal models of organic heart valve disease. ( 22475840 )
2013
47
Assessing operative risk and benefit in elderly patients with heart valve disease. ( 23821400 )
2013
48
The 7th biennial meeting of the Society for Heart Valve Disease. ( 23610980 )
2013
49
Exposure to benfluorex: left heart valve disease very common. ( 23951595 )
2013
50
The Turkish registry of heart valve disease. ( 23518931 )
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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