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 holt-oram syndrome. 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 Sevoflurane and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include heart 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 NOTCH1 TBX5
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 NOTCH1 TBX5
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 148)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Not Applicable 28523-86-6 5206
2
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
3
Pancuronium Approved Phase 4 15500-66-0 27350 441289
4
Midazolam Approved, Illicit Phase 4,Phase 2 59467-70-8 4192
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
6
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2 113775-47-6 68602 5311068
7
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
8
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2 147536-97-8 104865
9
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable 77-92-9 311
10 Beraprost Investigational Phase 4 88430-50-6
11 Anesthetics, Inhalation Phase 4,Phase 2,Not Applicable
12 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
14 Anesthetics Phase 4,Phase 3,Phase 2,Not Applicable
15 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Anesthetics, General Phase 4,Phase 2,Not Applicable
17 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Not Applicable
18 Sildenafil Citrate Phase 4,Phase 3,Not Applicable 171599-83-0
19 Anticoagulants Phase 4,Not Applicable
20 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Citrate Phase 4,Phase 3,Not Applicable
22 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Anesthetics, Intravenous Phase 4,Phase 2
24 Hypnotics and Sedatives Phase 4,Phase 2
25 Adrenergic alpha-Agonists Phase 4,Phase 2
26 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
27 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
28 Adrenergic Agents Phase 4,Phase 3,Phase 2
29 Analgesics Phase 4,Phase 2,Not Applicable
30 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Adrenergic Agonists Phase 4,Phase 3,Phase 2
32 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Antihypertensive Agents Phase 4,Phase 2
34 Calcium, Dietary Phase 4
35 Chelating Agents Phase 4
36 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2
37 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Adrenergic beta-Agonists Phase 4,Phase 3
39 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Adrenergic beta-2 Receptor Agonists Phase 4
41 Bronchodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Tocolytic Agents Phase 4,Not Applicable
43 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Albuterol Phase 4
45
Dobutamine Approved Phase 3 34368-04-2 36811
46
Phenylephrine Approved Phase 3 59-42-7 6041
47
Furosemide Approved, Vet_approved Phase 3 54-31-9 3440
48
Oxymetazoline Approved, Investigational Phase 3 1491-59-4 4636
49
Norepinephrine Approved Phase 3 51-41-2 439260
50
Racepinephrine Approved Phase 3 329-65-7 838

Interventional clinical trials:

(show top 50) (show all 227)
# Name Status NCT ID Phase Drugs
1 Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery Recruiting NCT03630796 Phase 4 Sevoflurane;TIVA
2 Dexmedetomidine Effect on Mitochondrial Function Recruiting NCT02299063 Phase 4 Dexmedetomidine;0.9% NaCl
3 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Children Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
4 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
5 Human Fibrinogen Concentrate in Pediatric Cardiac Surgery Recruiting NCT02822599 Phase 4 RiaStAP;Saline
6 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) )
7 Efficacy and Safety of Venus P-valve to Treat RVOT Stenosis With Pulmonary Regurgitation Unknown status NCT02071654 Phase 3
8 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)
9 Goal Directed Hemodynamic Management of Acute Heart Failure After Cardiac Surgery in Children Unknown status NCT02617602 Phase 3
10 Cardiac Resynchronization Therapy in Congenital Heart Defects Completed NCT00450684 Phase 2, Phase 3
11 Cylexin for Reduction of Reperfusion Injury in Infant Heart Surgery Completed NCT00226369 Phase 2, Phase 3 CY-1503
12 L-citrulline for Prevention of Sequelae of Acute Lung Injury in Pediatrics Undergoing Cardiopulmonary Bypass for Heart Defects Recruiting NCT02891837 Phase 3 L-citrulline
13 Intraoperative Dexamethasone in Pediatric Cardiac Surgery Completed NCT02615262 Phase 3 Dexamethasone;Placebo
14 Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass Recruiting NCT02320669 Phase 3 Triostat;Placebo
15 The Effects of Inhaled Nitric Oxide After Fontan Operation Completed NCT00945529 Phase 2, Phase 3 inhaled nitric oxide
16 Therapy of Pulmonary Arterial Hypertension (PAH) - Treatment With Sildenafil in Eisenmenger Patients Terminated NCT00586794 Phase 3 Sildenafil;Placebo
17 Multicenter Study of Iloprost Inhaled in Pulmonary Hypertension After Repair of Congenital Heart Diseases (CHD) Completed NCT01598441 Phase 3 iloprost nebuliser solution;distilled water
18 Enoxaparin in Children With Asymptomatic Venous Thrombosis After Pediatric Cardiac Surgery Withdrawn NCT01474902 Phase 3 Enoxaparin
19 Oral Triiodothyronine for Infants Less Than 5 Months & Malnourished Children Undergoing Cardiopulmonary Bypass in Indonesia Completed NCT02222532 Phase 3 Tetronine;Placebo
20 Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of Fallot Terminated NCT00564993 Phase 3 Dobutamin
21 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
22 Safety and Efficacy Study of Sitaxentan Sodium (Thelin™) in Patients With Pulmonary Arterial Hypertension Completed NCT00080457 Phase 3 sitaxsentan sodium
23 Physical Activity in Fontan Patients Completed NCT00363363 Phase 3
24 Respiratory and Physical Therapy in Patients With Associated Pulmonary Arterial Hypertension (APAH) With Congenital Heart Defects Unknown status NCT01397110 Phase 2
25 Cardiac Operation Under Totally Endoscope and Cardiopulmonary Bypass (CPB) Unknown status NCT00921596 Phase 1, Phase 2
26 Is Levosimendan Superior to Milrinone Regarding Acute Kidney Injury After Cardiac Surgery for Congenital Heart Disease? Completed NCT02232399 Phase 2 Levosimendan;Milrinone
27 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
28 Remote Preconditioning and Myocardial Protection Completed NCT02877238 Phase 2 Sevoflurane plus remote ischemic preconditioning;Total intravenous anesthesia plus remote ischemic preconditioning
29 Bosentan Therapy in Children With Functional Single Ventricle Completed NCT01662037 Phase 2 Bosentan
30 Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO) Completed NCT00115375 Phase 2 Clopidogrel (SR25990)
31 Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery Completed NCT01330433 Phase 2
32 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
33 Citrulline for Children Undergoing Cardiopulmonary Bypass Surgery Completed NCT00201214 Phase 1, Phase 2 Citrulline
34 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
35 Two Inodilators Postsurgery in Neonates Completed NCT01576094 Phase 1, Phase 2 Milrinone;Levosimendan
36 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
37 The Effect of Dexmedetomidine on Kidney Perfusion in Paediatric Patients Recruiting NCT03425734 Phase 2 Dexmedetomidine
38 Inhaled Iloprost as an Adjunct to Inhaled Nitric Oxide in Pediatric Critical Care Patients Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
39 Study Evaluating the Effect of IMA-638 in Subjects With Persistent Asthma Completed NCT00425061 Phase 2
40 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
41 A Pilot Study Investigating the Clinical Use of Tissue Engineered Vascular Grafts in Congenital Heart Surgery Completed NCT01034007 Phase 1
42 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
43 Biomarkers for Feeding Intolerance in Infants With Complex Congenital Heart Defects Undergoing Single Ventricle Staged Palliation Unknown status NCT02995577
44 Pediatric Exercise With Congenital Heart Defects (Kinderturnen Mit Angeborenem Herzfehler) Unknown status NCT00436098 Not Applicable
45 Randomized Controlled Trial of the Effects of Electroacupuncture Preconditioning in Children Undergoing Cardiac Surgery Unknown status NCT01227096
46 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
47 Model-based Versus Traditional Warfarin Dosing in Children Unknown status NCT02475863 Not Applicable
48 Outcomes in Patients and Their Closest Relatives Treated for Congenital Heart Disease With Catheter Based or Surgical Techniques Unknown status NCT01421030 Early Phase 1
49 Reversibility by Sildenafil of Exercise-Induced Abnormal Right Ventricular Pressure Response in ASD and VSD-Operated Patients Unknown status NCT00772135 Not Applicable sildenafil citrate
50 Copenhagen Baby Heart Unknown status NCT02753348

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, Testes

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 MYH6 NM_002471.3(MYH6): c.2033A> G (p.Asn678Ser) single nucleotide variant Likely pathogenic rs515726230 GRCh38 Chromosome 14, 23397187: 23397187
4 TBX5 NM_000192.3(TBX5): c.301A> T (p.Ile101Phe) single nucleotide variant Likely pathogenic rs515726234 GRCh37 Chromosome 12, 114837379: 114837379
5 TBX5 NM_000192.3(TBX5): c.301A> T (p.Ile101Phe) single nucleotide variant Likely pathogenic rs515726234 GRCh38 Chromosome 12, 114399574: 114399574
6 MYH6 NM_002471.3(MYH6): c.2033A> G (p.Asn678Ser) single nucleotide variant Likely pathogenic rs515726230 GRCh37 Chromosome 14, 23866396: 23866396
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 negative regulation of cell proliferation GO:0008285 9.46 NOTCH1 TBX5
2 heart development GO:0007507 9.43 NOTCH1 TBX5
3 in utero embryonic development GO:0001701 9.4 MYH6 NOTCH1
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.37 NOTCH1 TBX5
5 lung development GO:0030324 9.32 NOTCH1 TBX5
6 embryonic limb morphogenesis GO:0030326 9.26 NOTCH1 TBX5
7 positive regulation of cardiac muscle cell proliferation GO:0060045 9.16 NOTCH1 TBX5
8 endocardial cushion development GO:0003197 8.96 NOTCH1 TBX5
9 atrioventricular valve morphogenesis GO:0003181 8.62 NOTCH1 TBX5

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 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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