Aliases & Classifications for Heart, Malformation of

MalaCards integrated aliases for Heart, Malformation of:

Name: Heart, Malformation of 57 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial


External Ids:

OMIM 57 140500
MedGen 42 C0018798
SNOMED-CT via HPO 69 62067003

Summaries for Heart, Malformation of

MalaCards based summary : Heart, Malformation of is related to aneurysm of sinus of valsalva and atrial septal defect 4. An important gene associated with Heart, Malformation of is TBX5 (T-Box 5), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Thyroid hormone signaling pathway. The drugs Bosentan and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and testes, and related phenotypes are hypoplastic left heart and Increased shRNA abundance (Z-score > 2)

Description from OMIM: 140500

Related Diseases for Heart, Malformation of

Graphical network of the top 20 diseases related to Heart, Malformation of:



Diseases related to Heart, Malformation of

Symptoms & Phenotypes for Heart, Malformation of

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
congenital heart malformation
hypoplastic left heart syndrome


Clinical features from OMIM:

140500

Human phenotypes related to Heart, Malformation of:

32
# Description HPO Frequency HPO Source Accession
1 hypoplastic left heart 32 HP:0004383

GenomeRNAi Phenotypes related to Heart, Malformation of according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.5 TBX5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.5 TBX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 NOTCH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 NOTCH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 NOTCH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.5 TBX5 NOTCH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.5 TBX5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.5 NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 TBX5 NOTCH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.5 NOTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.5 TBX5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.5 TBX5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.5 NOTCH1

MGI Mouse Phenotypes related to Heart, Malformation of:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 MYH6 NOTCH1 TBX5

Drugs & Therapeutics for Heart, Malformation of

Drugs for Heart, Malformation of (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2 147536-97-8 104865
2
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2 113775-47-6 68602 5311068
3 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
4 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Adrenergic Agents Phase 4,Phase 3,Phase 2
6 Adrenergic Agonists Phase 4,Phase 3,Phase 2
7 Adrenergic beta-2 Receptor Agonists Phase 4
8 Adrenergic beta-Agonists Phase 4,Phase 3
9 Albuterol Phase 4
10 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Tocolytic Agents Phase 4,Not Applicable
12 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2
14 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Hypnotics and Sedatives Phase 4,Phase 2
16 Antihypertensive Agents Phase 4,Phase 2
17 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Bronchodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Analgesics Phase 4,Phase 2,Not Applicable
20 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
21 Adrenergic alpha-Agonists Phase 4,Phase 2
22 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
23
Furosemide Approved, Vet_approved Phase 3 54-31-9 3440
24
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
25
Dobutamine Approved Phase 3 34368-04-2 36811
26
Norepinephrine Approved Phase 3 51-41-2 439260
27
Phenylephrine Approved Phase 3 59-42-7 6041
28
Nitric Oxide Approved Phase 2, Phase 3,Phase 1,Not Applicable 10102-43-9 145068 160954
29
Oxymetazoline Approved, Investigational Phase 3 1491-59-4 4636
30
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
31
Racepinephrine Approved Phase 3 329-65-7 838
32
Iloprost Approved, Investigational Phase 3,Phase 2,Phase 1 78919-13-8 6443959
33
Benzocaine Approved, Investigational Phase 3,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
34
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
35
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 77-92-9 311
36 tannic acid Approved, Nutraceutical Phase 3,Phase 2,Not Applicable
37 Sildenafil Citrate Phase 3,Not Applicable 171599-83-0
38 diuretics Phase 2, Phase 3
39 Natriuretic Agents Phase 2, Phase 3
40 Natriuretic Peptide, Brain Phase 2, Phase 3
41 Anesthetics Phase 3,Phase 2,Not Applicable
42 Dopamine Agents Phase 3
43 Vasodilator Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
44 Epinephryl borate Phase 3
45 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2,Not Applicable
46 Phosphodiesterase 5 Inhibitors Phase 3,Not Applicable
47 Phosphodiesterase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
48 Platelet Aggregation Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
49
protease inhibitors Phase 3,Not Applicable
50 HIV Protease Inhibitors Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 217)
# Name Status NCT ID Phase Drugs
1 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Children Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
2 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
3 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Completed NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
4 Dexmedetomidine Effect on Mitochondrial Function Recruiting NCT02299063 Phase 4 Dexmedetomidine;0.9% NaCl
5 Human Fibrinogen Concentrate in Pediatric Cardiac Surgery Recruiting NCT02822599 Phase 4 RiaStAP;Saline
6 Efficacy and Safety of Venus P-valve to Treat RVOT Stenosis With Pulmonary Regurgitation Unknown status NCT02071654 Phase 3
7 Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of Fallot Unknown status NCT01941576 Phase 2, Phase 3 recombinant human brain natriuretic peptide (rhBNP);Placebo (0.9% sodium chloride)
8 Goal Directed Hemodynamic Management of Acute Heart Failure After Cardiac Surgery in Children Unknown status NCT02617602 Phase 3
9 Cardiac Resynchronization Therapy in Congenital Heart Defects Completed NCT00450684 Phase 2, Phase 3
10 Cylexin for Reduction of Reperfusion Injury in Infant Heart Surgery Completed NCT00226369 Phase 2, Phase 3 CY-1503
11 The Effects of Inhaled Nitric Oxide After Fontan Operation Completed NCT00945529 Phase 2, Phase 3 inhaled nitric oxide
12 Multicenter Study of Iloprost Inhaled in Pulmonary Hypertension After Repair of Congenital Heart Diseases (CHD) Completed NCT01598441 Phase 3 iloprost nebuliser solution;distilled water
13 Oral Triiodothyronine for Infants Less Than 5 Months & Malnourished Children Undergoing Cardiopulmonary Bypass in Indonesia Completed NCT02222532 Phase 3 Tetronine;Placebo
14 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
15 Safety and Efficacy Study of Sitaxentan Sodium (Thelin™) in Patients With Pulmonary Arterial Hypertension Completed NCT00080457 Phase 3 sitaxsentan sodium
16 Physical Activity in Fontan Patients Completed NCT00363363 Phase 3
17 L-citrulline for Prevention of Sequelae of Acute Lung Injury in Pediatrics Undergoing Cardiopulmonary Bypass for Heart Defects Recruiting NCT02891837 Phase 3 L-citrulline
18 Intraoperative Dexamethasone in Pediatric Cardiac Surgery Recruiting NCT02615262 Phase 3 Dexamethasone;Placebo
19 Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass Recruiting NCT02320669 Phase 3 Triostat;Placebo
20 Therapy of Pulmonary Arterial Hypertension (PAH) - Treatment With Sildenafil in Eisenmenger Patients Terminated NCT00586794 Phase 3 Sildenafil;Placebo
21 Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of Fallot Terminated NCT00564993 Phase 3 Dobutamin
22 Enoxaparin in Children With Asymptomatic Venous Thrombosis After Pediatric Cardiac Surgery Withdrawn NCT01474902 Phase 3 Enoxaparin
23 Respiratory and Physical Therapy in Patients With Associated Pulmonary Arterial Hypertension (APAH) With Congenital Heart Defects Unknown status NCT01397110 Phase 2
24 Cardiac Operation Under Totally Endoscope and Cardiopulmonary Bypass (CPB) Unknown status NCT00921596 Phase 1, Phase 2
25 Is Levosimendan Superior to Milrinone Regarding Acute Kidney Injury After Cardiac Surgery for Congenital Heart Disease? Completed NCT02232399 Phase 2 Levosimendan;Milrinone
26 Remote Preconditioning and Myocardial Protection Completed NCT02877238 Phase 2 Sevoflurane plus remote ischemic preconditioning;Total intravenous anesthesia plus remote ischemic preconditioning
27 Bosentan Therapy in Children With Functional Single Ventricle Completed NCT01662037 Phase 2 Bosentan
28 Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO) Completed NCT00115375 Phase 2 Clopidogrel (SR25990)
29 Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery Completed NCT01330433 Phase 2
30 Study of Inhaled Iloprost for the Treatment of Pulmonary Hypertension After Repair of Congenital Heart Disease Completed NCT01320878 Phase 2 iloprost nebuliser solution;iloprost nebuliser solution;distilled water
31 Citrulline for Children Undergoing Cardiopulmonary Bypass Surgery Completed NCT00201214 Phase 1, Phase 2 Citrulline
32 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
33 Two Inodilators Postsurgery in Neonates Completed NCT01576094 Phase 1, Phase 2 Milrinone;Levosimendan
34 Use of Local Anesthetic (0.25% Bupivacaine) for Pain Control in Pediatric Cardiac Catheterization Completed NCT01133119 Phase 2 Standard of Care;Standard of Care plus bupivacaine
35 Study Evaluating the Effect of IMA-638 in Subjects With Persistent Asthma Completed NCT00425061 Phase 2
36 The Effect of Dexmedetomidine on Kidney Perfusion in Paediatric Patients Recruiting NCT03425734 Phase 2 Dexmedetomidine
37 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
38 Inhaled Iloprost as an Adjunct to Inhaled Nitric Oxide in Pediatric Critical Care Patients Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
39 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
40 A Pilot Study Investigating the Clinical Use of Tissue Engineered Vascular Grafts in Congenital Heart Surgery Completed NCT01034007 Phase 1
41 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
42 Pediatric Exercise With Congenital Heart Defects (Kinderturnen Mit Angeborenem Herzfehler) Unknown status NCT00436098 Not Applicable
43 Randomized Controlled Trial of the Effects of Electroacupuncture Preconditioning in Children Undergoing Cardiac Surgery Unknown status NCT01227096
44 Prospective Evaluation of Changes in Tissue Oxygen Saturation in Brain and Kidney in Children Admitted to Intensive Care in the Postoperative Period of Cardiac Surgery Unknown status NCT02884973
45 Model-based Versus Traditional Warfarin Dosing in Children Unknown status NCT02475863 Not Applicable
46 Outcomes in Patients and Their Closest Relatives Treated for Congenital Heart Disease With Catheter Based or Surgical Techniques Unknown status NCT01421030 Early Phase 1
47 Reversibility by Sildenafil of Exercise-Induced Abnormal Right Ventricular Pressure Response in ASD and VSD-Operated Patients Unknown status NCT00772135 Not Applicable sildenafil citrate
48 Copenhagen Baby Heart Unknown status NCT02753348
49 Cardiovascular, Pulmonary and Skeletal Muscle Evaluation in Late Postoperative Period of the Fontan Surgery Unknown status NCT02283255 Not Applicable
50 Six Minutes Walk Test and Shuttle Walk Test in Eisenmenger Syndrome Unknown status NCT02752399

Search NIH Clinical Center for Heart, Malformation of

Genetic Tests for Heart, Malformation of

Genetic tests related to Heart, Malformation of:

# Genetic test Affiliating Genes
1 Heart, Malformation of 29

Anatomical Context for Heart, Malformation of

MalaCards organs/tissues related to Heart, Malformation of:

41
Heart, Kidney, Testes, Brain, Lung, Skeletal Muscle, Whole Blood

Publications for Heart, Malformation of

Variations for Heart, Malformation of

ClinVar genetic disease variations for Heart, Malformation of:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh37 Chromosome 12, 114823327: 114823327
2 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh38 Chromosome 12, 114385522: 114385522
3 TBX5 NM_000192.3(TBX5): c.301A> T (p.Ile101Phe) single nucleotide variant Likely pathogenic rs515726234 GRCh37 Chromosome 12, 114837379: 114837379
4 TBX5 NM_000192.3(TBX5): c.301A> T (p.Ile101Phe) single nucleotide variant Likely pathogenic rs515726234 GRCh38 Chromosome 12, 114399574: 114399574
5 MYH6 NM_002471.3(MYH6): c.2033A> G (p.Asn678Ser) single nucleotide variant Likely pathogenic rs515726230 GRCh37 Chromosome 14, 23866396: 23866396
6 MYH6 NM_002471.3(MYH6): c.2033A> G (p.Asn678Ser) single nucleotide variant Likely pathogenic rs515726230 GRCh38 Chromosome 14, 23397187: 23397187
7 NOTCH1 NM_017617.4(NOTCH1): c.2014+1G> A single nucleotide variant Likely pathogenic rs515726232 GRCh37 Chromosome 9, 139409741: 139409741
8 NOTCH1 NM_017617.4(NOTCH1): c.2014+1G> A single nucleotide variant Likely pathogenic rs515726232 GRCh38 Chromosome 9, 136515289: 136515289
9 NOTCH1 NM_017617.4(NOTCH1): c.5061G> T (p.Gln1687His) single nucleotide variant Likely pathogenic rs515726233 GRCh37 Chromosome 9, 139397740: 139397740
10 NOTCH1 NM_017617.4(NOTCH1): c.5061G> T (p.Gln1687His) single nucleotide variant Likely pathogenic rs515726233 GRCh38 Chromosome 9, 136503288: 136503288
11 NOTCH1 NM_017617.4(NOTCH1): c.5281delC (p.Arg1761Glyfs) deletion Likely pathogenic rs515726231 GRCh37 Chromosome 9, 139396827: 139396827
12 NOTCH1 NM_017617.4(NOTCH1): c.5281delC (p.Arg1761Glyfs) deletion Likely pathogenic rs515726231 GRCh38 Chromosome 9, 136502375: 136502375

Expression for Heart, Malformation of

Search GEO for disease gene expression data for Heart, Malformation of.

Pathways for Heart, Malformation of

Pathways related to Heart, Malformation of according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.38 NOTCH1 TBX5
2 11.22 MYH6 NOTCH1
3 10.62 NOTCH1 TBX5
4 10.52 MYH6 NOTCH1 TBX5

GO Terms for Heart, Malformation of

Biological processes related to Heart, Malformation of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.43 NOTCH1 TBX5
2 in utero embryonic development GO:0001701 9.4 MYH6 NOTCH1
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.37 NOTCH1 TBX5
4 lung development GO:0030324 9.32 NOTCH1 TBX5
5 embryonic limb morphogenesis GO:0030326 9.26 NOTCH1 TBX5
6 positive regulation of cardiac muscle cell proliferation GO:0060045 9.16 NOTCH1 TBX5
7 endocardial cushion development GO:0003197 8.96 NOTCH1 TBX5
8 atrioventricular valve morphogenesis GO:0003181 8.62 NOTCH1 TBX5

Sources for Heart, Malformation of

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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