Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
HLHS
MCID: HYP055
MIFTS: 63

Hypoplastic Left Heart Syndrome (HLHS)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hypoplastic Left Heart Syndrome

About this section

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome:

Name: Hypoplastic Left Heart Syndrome 11 19 58 75 28 5 43 14 36 71 31 33
Hlhs 19 58
Atresia or Marked Hypoplasia, of Aortic Orifice or Valve, with Hypoplasia of Ascending Aorta and Defective Development of Left Ventricle with Mitral Valve Atresia 33
Atresia or Marked Hypoplasia of Aortic Orifice or Valve, with Hypoplasia of Ascending Aorta and Defective Development of Left Ventricle 33
Hypoplasia of Aortic Valve, in Hypoplastic Left Heart Syndrome 33
Ascending Aorta Hypoplasia, in Hypoplastic Left Heart Syndrome 33
Atresia of Mitral Valve, in Hypoplastic Left Heart Syndrome 33
Aortic Valve Atresia, in Hypoplastic Left Heart Syndrome 33
Hlhs - [hypoplastic Left Heart Syndrome] 33
Heart, Hypoplastic Left, Syndrome 38
Left Heart Hypoplasia Syndrome 33
Hypoplasia of the Left Heart 33

Characteristics:


Prevelance:

1-5/10000 (United States, Europe, Austria, Belgium, Croatia, Denmark, France, Germany, Hungary, Ireland, Malta, Norway, Switzerland, United Kingdom, Ukraine, Sweden) 1-9/100000 (Italy, Netherlands, Poland, Portugal, Spain, China) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:9955
ICD9CM 34 746.7
MeSH 43 D018636
NCIt 49 C98894
SNOMED-CT 68 62067003
ICD10 31 Q23.4
MESH via Orphanet 44 D018636
ICD10 via Orphanet 32 Q23.4
UMLS via Orphanet 72 C0152101
Orphanet 58 ORPHA2248
ICD11 33 1811800027
UMLS 71 C0152101
Sources

Summaries for Hypoplastic Left Heart Syndrome

About this section

GARD: 19 Hypoplastic left heart syndrome (HLHS) is a heart condition present from birth (congenital heart defect). In HLHS, the heart's left side (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped. At birth, oxygen-rich blood bypasses the underdeveloped left side of the heart, going through openings between the left and right side that normally close a few days after birth (the patent ductus arteriosus and the patent foramen ovale). The right side of the heart then pumps blood to the lungs and the body. Therefore, there may be no symptoms for a few days. However, when these openings close, oxygen-rich blood cannot easily get to the rest of the body. Symptoms then develop quickly, and may include problems breathing, pounding heart, weak pulse, and/or an ashen or bluish skin color. Some children with HLHS also have other heart defects, such as an atrial septal defect. In most children with HLHS, the cause is not known. In some children, isolated HLHS is known to be genetic. These cases may be due to genetic changes in the GJA1 gene with autosomal recessive inheritance, or the NKX2-5 gene with autosomal dominant inheritance. HLHS has also been reported with certain genetic disorders including Turner syndrome, Jacobsen syndrome, trisomy 13, and trisomy 18.

MalaCards based summary: Hypoplastic Left Heart Syndrome, also known as hlhs, is related to aortic valve disease 2 and aortic valve disease 1. An important gene associated with Hypoplastic Left Heart Syndrome is TBX20 (T-Box Transcription Factor 20), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural crest differentiation. The drugs Ambrisentan and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related phenotypes are hypoplastic left heart and hypoplastic aortic arch

Orphanet: 58 A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.

Disease Ontology: 11 A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.

Wikipedia: 75 Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the... more...
Sources

Related Diseases for Hypoplastic Left Heart Syndrome

About this section

Diseases in the Hypoplastic Left Heart Syndrome family:

Hypoplastic Left Heart Syndrome 1 Hypoplastic Left Heart Syndrome 2

Diseases related to Hypoplastic Left Heart Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 297)
# Related Disease Score Top Affiliating Genes
1 aortic valve disease 2 32.5 TNNI3 SMAD6 NPPB NPPA NOTCH1 NKX2-5
2 aortic valve disease 1 32.5 TBX20 SMAD6 ROBO4 NPPB NOTCH1 NKX2-5
3 hypoplastic right heart syndrome 32.4 TBX20 NKX2-5
4 cardiac arrest 31.8 TNNI3 NPPB LCN2
5 heart septal defect 31.8 TBX20 NPPB NPPA NOTCH1 NKX2-5 MYH6
6 atrial heart septal defect 31.7 TNNI3 TBX20 NPPB NPPA NOTCH1 NKX2-5
7 endocardial fibroelastosis 31.7 NPPB NKX2-5 MYH6
8 transposition of the great arteries, dextro-looped 31.7 TBX20 NPPB NKX2-5
9 patent ductus arteriosus 1 31.6 TBX4 TBX20 NPPB NOTCH1 NKX2-5 MYH6
10 aortic valve insufficiency 31.4 TNNI3 NPPB NKX2-5
11 double outlet right ventricle 31.4 TBX20 NOTCH1 NKX2-5 MYH6 HAND1 GJA1
12 ventricular septal defect 31.4 TBX20 NPPB NPPA NOTCH1 NKX2-5 MYH6
13 atrioventricular septal defect 31.3 TBX20 NOTCH1 NKX2-5 MYH6 GJA1
14 tricuspid valve stenosis 31.1 NPPB NKX2-5 HAND1
15 mitral valve insufficiency 31.1 TNNI3 NPPB NPPA MYH6
16 third-degree atrioventricular block 31.1 TNNI3 NPPB NKX2-5 MYH6 GJA1
17 lipoprotein quantitative trait locus 31.1 TNNI3 TBX20 NPPB NPPA NOTCH1 NKX2-5
18 pulmonary edema 31.1 TNNI3 NPPB NPPA
19 patent foramen ovale 31.0 TNNI3 TBX4 TBX20 NPPB NPPA NKX2-5
20 subvalvular aortic stenosis 31.0 TNNI3 TBX20 NKX2-5
21 atrioventricular block 31.0 TNNI3 NPPB NKX2-5 MYH6 GJA1
22 kabuki syndrome 1 31.0 TBX20 NKX2-5 EHMT1
23 heart disease 30.9 TNNI3 TBX20 SMAD6 NPPB NPPA NOTCH1
24 ebstein anomaly 30.9 TBX20 NPPB NKX2-5 MYH6
25 congestive heart failure 30.8 TNNI3 NPPB NPPA MYH6
26 holt-oram syndrome 30.8 TBX4 TBX20 NPPA NKX2-5 MYH6
27 noonan syndrome 1 30.8 TBX20 NPPA NOTCH1 NKX2-5 MYH6
28 tetralogy of fallot 30.7 TNNI3 TBX20 NPPB NPPA NOTCH1 NKX2-5
29 pulmonary valve insufficiency 30.7 NPPB NKX2-5
30 cardiogenic shock 30.7 NPPB NPPA
31 diastolic heart failure 30.7 TNNI3 NPPB MYH6
32 myocardial infarction 30.7 TNNI3 NPPB NPPA MYH6 LCN2 GJA1
33 pericardial effusion 30.6 TNNI3 NPPB NPPA
34 dilated cardiomyopathy 30.6 TNNI3 TBX20 NPPB NPPA NOTCH1 NKX2-5
35 arrhythmogenic right ventricular cardiomyopathy 30.6 TNNI3 MYH6 GJA1 CDH2
36 rasopathy 30.6 TNNI3 TBX20 NOTCH1 NKX2-5 MYH6
37 left ventricular noncompaction 30.5 TNNI3 TBX20 NOTCH1 NKX2-5 MYH6 GJA1
38 aortic aneurysm, familial thoracic 1 30.5 TBX20 SMAD6 ROBO4 NOTCH1 NKX2-5 MYH6
39 hypertrophic cardiomyopathy 30.5 TNNI3 TBX20 NPPB NPPA NKX2-5 MYH6
40 hypoplastic left heart syndrome 1 12.0
41 hypoplastic left heart syndrome 2 11.8
42 aortic valve disease 3 11.3
43 critical congenital heart disease 11.2
44 congenital heart defects, multiple types, 4 11.2
45 ventricular septal defect 3 11.2
46 hypoplasia of the mitral valve annulus 11.2
47 congenital unguarded mitral orifice 11.2
48 single ventricular heart 11.0
49 tricuspid valve insufficiency 11.0
50 interatrial communication 10.9

Graphical network of the top 20 diseases related to Hypoplastic Left Heart Syndrome:



Diseases related to Hypoplastic Left Heart Syndrome
Sources

Symptoms & Phenotypes for Hypoplastic Left Heart Syndrome

About this section

Human phenotypes related to Hypoplastic Left Heart Syndrome:

58 30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic left heart 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004383
2 hypoplastic aortic arch 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012304
3 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001631
4 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001643
5 mitral stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001718
6 maternal diabetes 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009800
7 abnormality of chromosome segregation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002916
8 mitral atresia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011560

MGI Mouse Phenotypes related to Hypoplastic Left Heart Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 CDH2 EHMT1 FOXC2 GJA1 HAND1 LCN2
2 growth/size/body region MP:0005378 10.31 CDH2 CELSR1 EHMT1 ETV2 FOXC2 FOXL1
3 muscle MP:0005369 10.3 CDH2 FOXC2 GJA1 HAND1 MYH6 NKX2-5
4 nervous system MP:0003631 10.26 CDH2 CELSR1 EHMT1 FOXC2 GJA1 HAND1
5 normal MP:0002873 10.16 EHMT1 ETV2 FOXC2 GJA1 HAND1 NKX2-5
6 embryo MP:0005380 10.15 CDH2 CELSR1 EHMT1 ETV2 FOXC2 GJA1
7 cellular MP:0005384 10.13 CDH2 CELSR1 EHMT1 ETV2 FOXL1 GJA1
8 cardiovascular system MP:0005385 10.11 CDH2 EHMT1 ETV2 FOXC2 GJA1 HAND1
9 no phenotypic analysis MP:0003012 10.1 ETV2 FOXC2 GJA1 LCN2 NKX2-5 ROBO4
10 craniofacial MP:0005382 9.97 CELSR1 EHMT1 FOXC2 GJA1 HAND1 NKX2-5
11 respiratory system MP:0005388 9.65 CELSR1 FOXC2 GJA1 HAND1 MYH6 NKX2-5
12 mortality/aging MP:0010768 9.58 CDH2 CELSR1 EHMT1 ETV2 FOXC2 FOXL1
Sources

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

About this section

Drugs for Hypoplastic Left Heart Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
2
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
3
Sildenafil Approved, Investigational Phase 2 139755-83-2, 171599-83-0 5212 135398744
4
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
5
Oxandrolone Approved, Investigational Phase 1, Phase 2 53-39-4 5878
6
Racepinephrine Approved, Vet_approved Phase 2 51-43-4, 329-65-7 838 5816
7
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
8 Kava Approved, Investigational, Nutraceutical Phase 2 9000-38-8
9 Antihypertensive Agents Phase 2
10
Epoetin Alfa Phase 1, Phase 2
11 Hematinics Phase 1, Phase 2
12 Phosphodiesterase Inhibitors Phase 2
13 Phosphodiesterase 5 Inhibitors Phase 2
14 Vasodilator Agents Phase 2
15 Citrate Phase 2
16 Endothelin Receptor Antagonists Phase 2
17 Anabolic Agents Phase 1, Phase 2
18 Hormones Phase 1, Phase 2
19 Hormone Antagonists Phase 1, Phase 2
20 Androgens Phase 1, Phase 2
21 Epinephryl borate Phase 2
22
Dexmedetomidine Approved, Experimental, Vet_approved Phase 1 86347-14-0, 113775-47-6 68602 5311068
23 Poractant alfa Approved Phase 1 129069-19-8
24 Adrenergic alpha-Agonists Phase 1
25 Adrenergic Agonists Phase 1
26 Adrenergic Agents Phase 1
27 Neurotransmitter Agents Phase 1
28 Hypnotics and Sedatives Phase 1
29 Analgesics, Non-Narcotic Phase 1
30 Analgesics Phase 1
31 Pulmonary Surfactants Phase 1
32 Respiratory System Agents Phase 1
33
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
34
Tannic acid Approved 1401-55-4 16129878 16129778
35
Ascorbic acid Approved, Nutraceutical 50-81-7 54676860 54670067 5785
36 Immunoglobulins
37 Antibodies
38 Vitamins
39 Trace Elements
40 Antioxidants
41 Micronutrients
42 Protective Agents
43 Anesthetics

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Autologous Cardiac Stem Cells (JRM-001) Treated After Reconstructive Surgery in Pediatric Patients With Congenital Heart Disease: A Multicenter Randomized Single-blind Parallel-group Study Recruiting NCT02781922 Phase 3
2 Lomecel-B Injection in Patients With Hypoplastic Left Heart Syndrome: A Phase I/II Study (ELPIS) Completed NCT03525418 Phase 1, Phase 2
3 Safety, Pharmacokinetics (PK) and Hemodynamic Effects of Ambrisentan in Single Ventricle Pediatric Patients Completed NCT02080637 Phase 2 Ambrisentan
4 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Completed NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
5 The Sildenafil After Fontan Operation Study Completed NCT00507819 Phase 2 Sildenafil;Placebo
6 Treatment With Endothelin Antagonist to Tcpc Patients; a Multicenter, Randomized, Prospective Study Measuring Maximal O2 Uptake in Ergometer Bicycle Test Completed NCT01292551 Phase 2 Bosentan;Placebo
7 Phase 2 Study of Intracoronary Infusion of Cardiac Progenitor Cells in Patients With Univentricular Heart Disease Completed NCT01829750 Phase 2
8 Use of Oxandrolone to Promote Growth in Infants With Hypoplastic Left Heart Syndrome: A Phase I/II Pilot Study Recruiting NCT04090697 Phase 1, Phase 2 Oxandrolone
9 Evaluation of Lomecel-Bâ„¢ Injection in Patients With Hypoplastic Left Heart Syndrome: A Phase IIb Clinical Trial. Recruiting NCT04925024 Phase 2
10 Prospective, Open-labeled, Single-arm Clinical Trial to Evaluate the Safety and Efficacy of the Second-generation Tissue Engineered Vascular Graft as Vascular Conduits for Extracardiac Total Cavopulmonary Connection. Recruiting NCT04467671 Phase 2
11 Maternal Hyperoxygenation in Congenital Heart Disease Recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
12 Phase IIb Study of Intramyocardial Injection of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Stage II Surgical Repair of Right Ventricular Dependent Variants of Hypoplastic Left Heart Syndrome (AutoCell-S2) Active, not recruiting NCT03779711 Phase 2
13 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Active, not recruiting NCT03079401 Phase 1, Phase 2
14 Phase I Safety Study of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Stage II Palliation of Hypoplastic Left Heart Syndrome Completed NCT01883076 Phase 1
15 Safety Study of Autologous Cord Blood Stem Cell Treatment in Hypoplastic Left Heart Syndrome Patients Undergoing the Norwood Heart Operation Completed NCT03431480 Phase 1
16 Phase I Study of Cardiac Progenitor Cell Therapy in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
17 The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
18 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
19 Autologous Cardiac Stem Cell Injection in Patients With Hypoplastic Left Heart Syndrome: An Open Label Pilot Study. Recruiting NCT03406884 Phase 1
20 The Cold Heart Study: A Randomized Pilot Trial of Surfactant Therapy Following Deep Hypothermic Circulatory Arrest During Cardiac Surgery Recruiting NCT04181255 Phase 1 Curosurf;Sham
21 Allogeneic Human MEsenchymal Stem Cell (hMSC) Injection in Patients With Hypoplastic Left Heart Syndrome: An Open Label Pilot Study. Terminated NCT02398604 Phase 1 Allo-hMSCs;Placebo
22 Autologous Cord Blood Cells for Patients With HLHS: Phase I Study of Feasibility and Safety Terminated NCT01445041 Phase 1
23 Neurodevelopmental Outcomes in Hypoplastic Left Heart Syndrome-Correlation With Cerebral Non-invasive Infrared Spectroscopy (NIRS) Completed NCT00399555
24 Comparison of Feeding Strategies After Stage 1 Procedures for Hypoplastic Left Heart Syndrome Infants: A Randomized Controlled Trial Completed NCT02657629
25 Family Stress, Coping and Outcomes Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn Completed NCT00734643
26 Neurodevelopmental Outcomes and Postoperative Hemodynamics in Children With Hypoplastic Left Heart Syndrome Completed NCT00464100
27 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Completed NCT01708863
28 Evaluation of Panel Reactive Antibody in Children Following Stage I Palliation for Hypoplastic Left Heart Syndrome Completed NCT01135485
29 The Impact of Family Factors on Developmental and Psychosocial Outcomes in Children With Hypoplastic Left Heart Syndrome (HLHS) at 6 Years of Age - Pediatric Heart Network Single Ventricle Reconstruction Extension (SVR II) Ancillary Study Completed NCT01582529
30 Interstitial Colloid Osmotic Pressure in Children With Congenital Heart Defect Preparing for Fontan Surgery Undergoing Preoperative Catheterization and Surgery in General Anesthesia Completed NCT02306057
31 Vitamin C May Improve Endothelial Function and Exercise Capacity in Functional Single Ventricle Patients After Fontan Palliation Completed NCT00974025
32 Randomized Controlled Trial on Deep Hypothermic Circulatory Arrest Versus Antegrade Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
33 The GECHO Trial: Genetic Determinants of Congenital Heart Disease Outcomes Completed NCT01656941
34 Physical Activity Promotion in Children and Adolescents With Single Ventricle Physiology (MedBike) Completed NCT04056416
35 Identification of Biomarkers for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
36 The Examination of Outcome in Children With Single Ventricle Physiology Completed NCT00308217
37 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Requiring Neonatal Surgery Completed NCT02462434
38 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169
39 Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure Completed NCT01215240
40 Cardiac Biomarkers in Patients With Single Ventricle Physiology Completed NCT03678909
41 Near Infrared Spectroscopy Monitoring of Cerebral Oxygen Saturation in Neonatal Cardiac Surgery - Comparison With Common Methods of Estimating Adequate Systemic Perfusion Completed NCT00166101
42 Impact of NAVA Ventilation on Brain Oxygenation and Perfusion in Children With Congenital Heart Disease Recruiting NCT04581668
43 Umbilical Cord Blood Collection and Processing for Severe Congenital Heart Disease Recruiting NCT01856049
44 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Recruiting NCT03147014
45 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
46 Effect of Fetal Aortic Valvuloplasty on Outcomes. A Prospective Observational Cohort Study With a Comparison Cohort Recruiting NCT05386173
47 National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) - A Collaborative Initiative to Improve Care of Children With Complex Congenital Heart Disease Recruiting NCT02852031
48 Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease? Recruiting NCT04106479
49 Long-term Outcomes of Children With HLHS (Hypoplastic Left Heart Syndrome) and the Impact of Norwood Shunt Type (A Study Conducted by the Pediatric Heart Network) Active, not recruiting NCT02455531
50 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Active, not recruiting NCT01736956

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Alprostadil

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hypoplastic Left Heart Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hypoplastic Left Heart Syndrome:
Cardiac progenitor cells for single-ventricle anomalies
Embryonic/Adult Cultured Cells Related to Hypoplastic Left Heart Syndrome:
Cardiac progenitor cells PMIDs: 17502484 14530411 18754813
Cardiac stem cells PMIDs: 17502484 14530411 18754813

Cochrane evidence based reviews: hypoplastic left heart syndrome

Sources

Genetic Tests for Hypoplastic Left Heart Syndrome

About this section

Genetic tests related to Hypoplastic Left Heart Syndrome:

# Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome 28
Sources

Anatomical Context for Hypoplastic Left Heart Syndrome

About this section

Organs/tissues related to Hypoplastic Left Heart Syndrome:

MalaCards : Heart, Skin, Brain, Endothelial, Bone Marrow, Lung, Cardiac Myocytes
Sources

Publications for Hypoplastic Left Heart Syndrome

About this section

Articles related to Hypoplastic Left Heart Syndrome:

(show top 50) (show all 3303)
# Title Authors PMID Year
1
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. 62 5
30511478 2019
2
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). 5
31690835 2020
3
Detection rates of a national fetal anomaly screening programme: A national cohort study. 62
36054171 2023
4
Anemia after Pediatric Congenital Heart Surgery. 62
36388078 2022
5
Impact of surfactant when utilized during pediatric cardiac surgery admissions: analysis of a nationwide database. 62
34139955 2022
6
Impact of Maternal-Fetal Environment on Outcomes Following the Hybrid Procedure in the Single Ventricle Population. 62
36462027 2022
7
Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review. 62
36468281 2022
8
Fatal nocardiosis infection in a pediatric patient with an immunodeficiency after heart re-transplantation. 62
35726843 2022
9
Preterm Birth Is Associated With Adverse Cardiac Remodeling and Worse Outcomes in Patients with a Functional Single Right Ventricle. 62
36470462 2022
10
The use of cardiac ultrasound imaging in first-trimester prenatal diagnosis of congenital heart diseases. 62
36468264 2022
11
Perioperative Outcomes in Patients With Failing Single-Ventricle Physiology Undergoing Ventricular Assist Device Placement: A Single Institutional Experience. 62
36050214 2022
12
Survival After Intervention for Single-Ventricle Heart Disease Over 15 Years at a Single Institution. 62
35430225 2022
13
Reduction of infant mortality from congenital heart defects in a middle-income country: Costa Rican experience. 62
36177489 2022
14
Is it really a levoatrial cardinal vein? 62
36040644 2022
15
Hybrid strategy in neonates with ductal-dependent systemic circulation and multiple risk factors. 62
35577592 2022
16
Correction to: Outcomes of Patients With Hypoplastic Left Heart Syndrome Reaching Adulthood After Fontan Palliation: Multicenter Study. 62
36343107 2022
17
Can Pediatric Heart Failure Therapy Be Improved? Yes It Can, But…. 62
35931946 2022
18
Which is the best time to perform balloon valvuloplasty in critically fetal aortic stenosis: Prenatally or after birth? 62
36353906 2022
19
Systems analysis of de novo mutations in congenital heart diseases identified a protein network in the hypoplastic left heart syndrome. 62
36167075 2022
20
Force Profiles of Single Ventricle Atrioventricular Leaflets in Response to Annular Dilation and Leaflet Tethering. 62
36455710 2022
21
Preoperative in-hospital mortality in neonates with critical CHD. 62
34961569 2022
22
A computational study of aortic reconstruction in single ventricle patients. 62
36335184 2022
23
Palliated hypoplastic left heart syndrome patients experience superior waitlist and comparable post-heart transplant survival to non-single ventricle congenital heart disease patients. 62
36455711 2022
24
Influenza vaccination during pregnancy and risk of selected major structural congenital heart defects, National Birth Defects Prevention Study 2006-2011. 62
36369789 2022
25
Interventions and neonatal outcomes of fetuses with hypoplastic left heart syndrome and congenital diaphragmatic hernia: a systematic review. 62
33207977 2022
26
Deep Learning for Improving the Effectiveness of Routine Prenatal Screening for Major Congenital Heart Diseases. 62
36362685 2022
27
Fetal Diagnosis of Scimitar Syndrome in the Presence of Complex Congenital Heart Disease. 62
36241899 2022
28
Prenatal imaging of a fetus with the rare combination of Pfeiffer syndrome and hypoplastic left heart syndrome. 62
35917041 2022
29
Prenatally diagnosed coronary artery abnormalities in hypoplastic left heart syndrome are associated with a higher probability of heart transplantation. 62
35996335 2022
30
Palliation Plus Ventricular Assist Device Insertion in 15 Neonates and Infants With Functionally Univentricular Circulation. 62
35304109 2022
31
Characterization of an iPSC line NCHi006-A from a patient with hypoplastic left heart syndrome (HLHS). 62
35987121 2022
32
Unlocking the Non-invasive Assessment of Conduit and Reservoir Function in the Aorta : The Obstructive Descending Aorta in HLHS. 62
35199256 2022
33
Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model of hypoplastic left heart syndrome. 62
36198703 2022
34
The Relationship of Family Factors to Psychosocial Outcomes in Children with Hypoplastic Left Heart Syndrome at 6 Years of Age. 62
36265572 2022
35
Autologous Cardiac Stem Cell Injection in Patients with Hypoplastic Left Heart Syndrome (CHILD Study). 62
35394149 2022
36
Probing single ventricle heart defects with patient-derived induced pluripotent stem cells and emerging technologies. 62
35199491 2022
37
Impact of Reintervention During Stage 1 Palliation Hospitalization: A National, Multicenter Study. 62
36306859 2022
38
Contribution of preterm birth to mortality among neonates with birth defects. 62
36228684 2022
39
Is native aortic valvuloplasty at time of Norwood operation in infants with hypoplastic left heart syndrome and aortic stenosis safe? 62
36259095 2022
40
Single Ventricle With Hypoplastic Left Heart Syndrome in a 22-Year-Old Male: A Rare Case Report. 62
36381771 2022
41
Does COVID-19 pose a threat for patients after univentricular palliation? Thrombosis of the Fontan tunnel. 62
35086604 2022
42
Growth failure in patients with hypoplastic left heart syndrome: An ongoing challenge. 62
35690152 2022
43
Hospitalisations of children and adults with Hypoplastic Left Heart Syndrome in Texas from 2009 to 2019. 62
36220311 2022
44
Anesthetic management using high-flow nasal cannula therapy during cardiac catheter examination of a neonate with hypoplastic left heart syndrome. 62
36222838 2022
45
Milrinone for treatment of elevated lactate in the pre-operative newborn with hypoplastic left heart syndrome. 62
36184833 2022
46
Imaging for Hypoplastic Left Heart Syndrome. 62
36053109 2022
47
Commentary: Aortopulmonary Collaterals in Hypoplastic Left heart Syndrome: Chicken or the Egg? 62
36150685 2022
48
[Current Surgical Treatment for Patients with Hypoplastic Left Heart Syndrome, from the Viewpoint of Emergent Operation]. 62
36155574 2022
49
Mycotic Pseudoaneurysm: Rare Complication of a Norwood/Sano Graft Stump. 62
36069034 2022
50
Intermediate-term outcomes of deferred Norwood strategy. 62
35178578 2022
Sources

Variations for Hypoplastic Left Heart Syndrome

About this section

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome:

5 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 5 genes GRCh37/hg19 9q34.3(chr9:139315643-139465759)x1 CN LOSS Pathogenic
 1048548 GRCh37: 9:139315643-139465759
GRCh38:
2 TBX20 NM_001077653.2(TBX20):c.995del (p.Pro332fs) DEL Pathogenic
 438266 rs1554284604 GRCh37: 7:35244090-35244090
GRCh38: 7:35204478-35204478
3 TBX4 NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) SNV Pathogenic
 638159 rs1603251494 GRCh37: 17:59544871-59544871
GRCh38: 17:61467510-61467510
4 ETV2 NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr) SNV Likely Pathogenic
 1162783 GRCh37: 19:36135178-36135178
GRCh38: 19:35644276-35644276
5 ETV2 NM_014209.4(ETV2):c.350del (p.Gly117fs) DEL Likely Pathogenic
 1162784 GRCh37: 19:36134288-36134288
GRCh38: 19:35643386-35643386
6 NOTCH1 NM_017617.5(NOTCH1):c.5385-1G>A SNV Likely Pathogenic
 804230 rs1843006535 GRCh37: 9:139396541-139396541
GRCh38: 9:136502089-136502089
7 NOTCH1 NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter) SNV Likely Pathogenic
 996736 rs202235419 GRCh37: 9:139413065-139413065
GRCh38: 9:136518613-136518613
8 NOTCH1 NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs) DUP Likely Pathogenic
 996737 rs1843262329 GRCh37: 9:139410450-139410451
GRCh38: 9:136515998-136515999
9 NOTCH1 NM_017617.5(NOTCH1):c.2741-1G>A SNV Likely Pathogenic
 996738 rs1843152606 GRCh37: 9:139404414-139404414
GRCh38: 9:136509962-136509962
10 NOTCH1 NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) SNV Uncertain Significance
 996739 rs1842918022 GRCh37: 9:139391013-139391013
GRCh38: 9:136496561-136496561
11 HAND1 NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys) SNV Uncertain Significance
 1019101 rs764242373 GRCh37: 5:153857354-153857354
GRCh38: 5:154477794-154477794
12 HAND1 NM_004821.3(HAND1):c.587A>G (p.Lys196Arg) SNV Uncertain Significance
 240076 rs878854747 GRCh37: 5:153855427-153855427
GRCh38: 5:154475867-154475867
13 overlap with 5 genes GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2 CN GAIN Uncertain Significance
 974792 GRCh37: X:2748537-2937367
GRCh38:
14 CFAP53 NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser) SNV Uncertain Significance
 560610 rs375198063 GRCh37: 18:47792729-47792729
GRCh38: 18:50266359-50266359
15 HAND1 NM_004821.3(HAND1):c.370G>T (p.Val124Leu) SNV Uncertain Significance
 999716 rs745686103 GRCh37: 5:153857199-153857199
GRCh38: 5:154477639-154477639
16 HAND1 NM_004821.3(HAND1):c.289G>T (p.Gly97Cys) SNV Uncertain Significance
 240075 rs878854746 GRCh37: 5:153857280-153857280
GRCh38: 5:154477720-154477720
17 HAND1 NM_004821.3(HAND1):c.551A>T (p.His184Leu) SNV Uncertain Significance
 1023202 rs1246794989 GRCh37: 5:153855463-153855463
GRCh38: 5:154475903-154475903
18 HAND1 NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys) SNV Uncertain Significance
 1034420 rs564241048 GRCh37: 5:153857447-153857447
GRCh38: 5:154477887-154477887
19 HAND1 NM_004821.3(HAND1):c.245C>T (p.Pro82Leu) SNV Uncertain Significance
 1372110 GRCh37: 5:153857324-153857324
GRCh38: 5:154477764-154477764
20 HAND1 NM_004821.3(HAND1):c.574G>A (p.Gly192Ser) SNV Uncertain Significance
 1383106 GRCh37: 5:153855440-153855440
GRCh38: 5:154475880-154475880
21 HAND1 NM_004821.3(HAND1):c.202G>C (p.Ala68Pro) SNV Uncertain Significance
 1404364 GRCh37: 5:153857367-153857367
GRCh38: 5:154477807-154477807
22 HAND1 NM_004821.3(HAND1):c.128A>G (p.Gln43Arg) SNV Uncertain Significance
 1400060 GRCh37: 5:153857441-153857441
GRCh38: 5:154477881-154477881
23 HAND1 NM_004821.3(HAND1):c.152A>T (p.Asp51Val) SNV Uncertain Significance
 1396928 GRCh37: 5:153857417-153857417
GRCh38: 5:154477857-154477857
24 HAND1 NM_004821.3(HAND1):c.400A>T (p.Lys134Ter) SNV Uncertain Significance
 1394020 GRCh37: 5:153857169-153857169
GRCh38: 5:154477609-154477609
25 HAND1 NM_004821.3(HAND1):c.135G>T (p.Trp45Cys) SNV Uncertain Significance
 1468337 GRCh37: 5:153857434-153857434
GRCh38: 5:154477874-154477874
26 HAND1 NM_004821.3(HAND1):c.174G>A (p.Ala58=) SNV Uncertain Significance
 1446649 GRCh37: 5:153857395-153857395
GRCh38: 5:154477835-154477835
27 HAND1 NM_004821.3(HAND1):c.566C>T (p.Pro189Leu) SNV Uncertain Significance
 1495405 GRCh37: 5:153855448-153855448
GRCh38: 5:154475888-154475888
28 HAND1 NM_004821.3(HAND1):c.604A>G (p.Thr202Ala) SNV Uncertain Significance
 1450516 GRCh37: 5:153855410-153855410
GRCh38: 5:154475850-154475850
29 HAND1 NM_004821.3(HAND1):c.66_73dup (p.Glu25fs) DUP Uncertain Significance
 1512605 GRCh37: 5:153857495-153857496
GRCh38: 5:154477935-154477936
30 RBFOX2 NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter) SNV Uncertain Significance
 1699029 GRCh37: 22:36205937-36205937
GRCh38: 22:35809890-35809890
31 HAND1 NM_004821.3(HAND1):c.187C>T (p.Pro63Ser) SNV Uncertain Significance
 656575 rs772843786 GRCh37: 5:153857382-153857382
GRCh38: 5:154477822-154477822
32 HAND1 NM_004821.3(HAND1):c.10G>A (p.Val4Met) SNV Uncertain Significance
 1720871 GRCh37: 5:153857559-153857559
GRCh38: 5:154477999-154477999
33 TBX1 NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) SNV Uncertain Significance
 560627 rs541198585 GRCh37: 22:19754349-19754349
GRCh38: 22:19766826-19766826
34 NOTCH1 NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) SNV Uncertain Significance
 134930 rs61751543 GRCh37: 9:139401233-139401233
GRCh38: 9:136506781-136506781
35 NOTCH1 NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) SNV Uncertain Significance
 450338 rs756972680 GRCh37: 9:139401216-139401216
GRCh38: 9:136506764-136506764
36 NOTCH1 NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) SNV Uncertain Significance
 134954 rs61751489 GRCh37: 9:139391338-139391338
GRCh38: 9:136496886-136496886
37 HAND1 NM_004821.3(HAND1):c.257A>T (p.Glu86Val) SNV Uncertain Significance
 528329 rs1177737621 GRCh37: 5:153857312-153857312
GRCh38: 5:154477752-154477752
38 HAND1 NM_004821.3(HAND1):c.62C>T (p.Pro21Leu) SNV Uncertain Significance
 1369177 GRCh37: 5:153857507-153857507
GRCh38: 5:154477947-154477947
39 HAND1 NM_004821.3(HAND1):c.117G>C (p.Arg39Ser) SNV Uncertain Significance
 1379353 GRCh37: 5:153857452-153857452
GRCh38: 5:154477892-154477892
40 HAND1 NM_004821.3(HAND1):c.271C>A (p.Arg91Ser) SNV Uncertain Significance
 1399711 GRCh37: 5:153857298-153857298
GRCh38: 5:154477738-154477738
41 HAND1 NM_004821.3(HAND1):c.161C>G (p.Pro54Arg) SNV Uncertain Significance
 1406901 GRCh37: 5:153857408-153857408
GRCh38: 5:154477848-154477848
42 HAND1 NM_004821.3(HAND1):c.544-18C>G SNV Uncertain Significance
 1365402 GRCh37: 5:153855488-153855488
GRCh38: 5:154475928-154475928
43 HAND1 NM_004821.3(HAND1):c.496C>T (p.Leu166Phe) SNV Uncertain Significance
 1433570 GRCh37: 5:153857073-153857073
GRCh38: 5:154477513-154477513
44 HAND1 NM_004821.3(HAND1):c.67C>T (p.Leu23Phe) SNV Uncertain Significance
 1449268 GRCh37: 5:153857502-153857502
GRCh38: 5:154477942-154477942
45 HAND1 NM_004821.3(HAND1):c.454A>G (p.Lys152Glu) SNV Uncertain Significance
 1509887 GRCh37: 5:153857115-153857115
GRCh38: 5:154477555-154477555
46 HAND1 NM_004821.3(HAND1):c.219T>C (p.Gly73=) SNV Likely Benign
 1580133 GRCh37: 5:153857350-153857350
GRCh38: 5:154477790-154477790
47 HAND1 NM_004821.3(HAND1):c.204C>T (p.Ala68=) SNV Likely Benign
 1582158 GRCh37: 5:153857365-153857365
GRCh38: 5:154477805-154477805
48 HAND1 NM_004821.3(HAND1):c.357G>C (p.Glu119Asp) SNV Likely Benign
 1597432 GRCh37: 5:153857212-153857212
GRCh38: 5:154477652-154477652
49 HAND1 NM_004821.3(HAND1):c.225C>T (p.Asp75=) SNV Likely Benign
 1624724 GRCh37: 5:153857344-153857344
GRCh38: 5:154477784-154477784
50 HAND1 NM_004821.3(HAND1):c.345G>T (p.Ala115=) SNV Likely Benign
 1623502 GRCh37: 5:153857224-153857224
GRCh38: 5:154477664-154477664

Copy number variations for Hypoplastic Left Heart Syndrome from CNVD:

6 (show all 21)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 14068 1 103830000 103950000 Deletion Hypoplastic left heart syndrome
2 21589 1 159750000 159870000 Duplication Hypoplastic left heart syndrome
3 25802 1 194970000 195150000 Deletion Hypoplastic left heart syndrome
4 42872 10 41970000 42150000 Deletion Hypoplastic left heart syndrome
5 43118 10 44550000 44670000 Duplication Hypoplastic left heart syndrome
6 66481 12 29999 149999 Duplication Hypoplastic left heart syndrome
7 67101 12 36330000 36690000 Duplication Hypoplastic left heart syndrome
8 75411 13 19710000 19950000 Deletion Hypoplastic left heart syndrome
9 86813 14 65790000 65910000 Deletion Hypoplastic left heart syndrome
10 89821 15 19110000 20070000 Duplication Hypoplastic left heart syndrome
11 90056 15 19890000 20010000 Duplication Hypoplastic left heart syndrome
12 90977 15 26730000 26910000 Duplication Hypoplastic left heart syndrome
13 105401 16 79469999 80189999 Duplication Hypoplastic left heart syndrome
14 113091 17 41730000 41910000 Duplication Hypoplastic left heart syndrome
15 135332 2 113909999 114089999 Deletion Hypoplastic left heart syndrome
16 157162 21 13530000 13650000 Deletion Hypoplastic left heart syndrome
17 157211 21 13949999 14129999 Deletion Hypoplastic left heart syndrome
18 157986 21 28170000 28230000 Deletion Hypoplastic left heart syndrome
19 160077 21 9750000 9870000 Deletion Hypoplastic left heart syndrome
20 213658 6 49949999 50009999 Duplication Hypoplastic left heart syndrome
21 217526 7 101789999 101909999 Duplication Hypoplastic left heart syndrome
Sources

Expression for Hypoplastic Left Heart Syndrome

About this section
Search GEO for disease gene expression data for Hypoplastic Left Heart Syndrome.
Sources

Pathways for Hypoplastic Left Heart Syndrome

About this section

Pathways related to Hypoplastic Left Heart Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.75 TNNI3 NOTCH1 NKX2-5 GJA1
2
Neural crest differentiation 74
11.58 NOTCH1 HAND1 CDH2
3
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.54 TNNI3 NKX2-5 GJA1 CDH2
4
Cardiac progenitor differentiation 74
11.08 TNNI3 TBX20 NOTCH1 NKX2-5 MYH6
5
BMP signaling in eyelid development 74
10.76 NOTCH1 FOXC2
6
Heart development 74
10.69 TBX20 NOTCH1 NKX2-5 HAND1 FOXC2
7
Cardiomyocyte Differentiation through BMP Receptors 64
10.67 NPPB NPPA NKX2-5
8
YAP1- and WWTR1 (TAZ)-stimulated gene expression 66
10.61 NPPA NKX2-5
9
HOP Signaling 64
10.15 NPPA NKX2-5
Sources

GO Terms for Hypoplastic Left Heart Syndrome

About this section

Cellular components related to Hypoplastic Left Heart Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.53 TBX4 TBX20 SMAD6 NKX2-5 HAND1 FOXL1

Biological processes related to Hypoplastic Left Heart Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of DNA-templated transcription GO:0045892 10.41 TBX20 RBFOX2 NOTCH1 NKX2-5 HAND1 EHMT1
2 cell differentiation GO:0030154 10.29 ETV2 FOXC2 FOXL1 HAND1 NKX2-5 NOTCH1
3 regulation of DNA-templated transcription GO:0006355 10.24 ETV2 FOXC2 FOXL1 NKX2-5 NOTCH1 SMAD6
4 vasculogenesis GO:0001570 10.09 TNNI3 TBX20 NKX2-5
5 cardiac muscle contraction GO:0060048 10.03 TNNI3 NKX2-5 MYH6
6 heart looping GO:0001947 10.01 TBX20 NOTCH1 NKX2-5 HAND1
7 cGMP biosynthetic process GO:0006182 9.93 NPPB NPPA
8 outflow tract septum morphogenesis GO:0003148 9.93 TBX20 SMAD6 NKX2-5
9 heart development GO:0007507 9.93 FOXC2 FOXL1 GJA1 HAND1 NKX2-5 NOTCH1
10 receptor guanylyl cyclase signaling pathway GO:0007168 9.92 NPPA NPPB
11 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.92 FOXC2 HAND1 MYH6 TNNI3
12 blood vessel diameter maintenance GO:0097746 9.91 NPPB NPPA FOXC2
13 cardiac muscle cell proliferation GO:0060038 9.91 NOTCH1 NKX2-5 FOXC2
14 outflow tract morphogenesis GO:0003151 9.9 TBX20 NOTCH1 NKX2-5
15 pericardium morphogenesis GO:0003344 9.89 TBX20 NOTCH1
16 mesenchymal cell development GO:0014031 9.88 TBX20 NOTCH1
17 atrioventricular node development GO:0003162 9.87 NOTCH1 NKX2-5
18 negative regulation of SMAD protein complex assembly GO:0010991 9.85 TBX20 SMAD6
19 cardiac muscle tissue morphogenesis GO:0055008 9.85 TBX20 NOTCH1 NKX2-5
20 cardiac right ventricle formation GO:0003219 9.84 HAND1 NOTCH1
21 glomerular mesangial cell development GO:0072144 9.83 FOXC2 NOTCH1
22 motor neuron migration GO:0097475 9.8 TBX20 CELSR1
23 cardiac chamber formation GO:0003207 9.8 TBX20 NOTCH1
24 embryonic heart tube development GO:0035050 9.8 TBX20 NKX2-5 HAND1 FOXC2
25 cardiac ventricle morphogenesis GO:0003208 9.78 NOTCH1 NKX2-5
26 cardiac conduction system development GO:0003161 9.56 NPPB NPPA NKX2-5 GJA1
27 aortic valve morphogenesis GO:0003180 9.32 TBX20 SMAD6 NPPA NOTCH1 NKX2-5

Molecular functions related to Hypoplastic Left Heart Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.76 NKX2-5 HAND1 FOXL1 FOXC2 ETV2
2 DNA-binding transcription factor activity GO:0003700 9.56 TBX4 TBX20 NKX2-5 FOXL1 FOXC2 ETV2
3 hormone receptor binding GO:0051427 8.92 NPPB NPPA
Sources

Sources for Hypoplastic Left Heart Syndrome

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....