HLHS1
MCID: HYP543
MIFTS: 44

Hypoplastic Left Heart Syndrome 1 (HLHS1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hypoplastic Left Heart Syndrome 1

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome 1:

Name: Hypoplastic Left Heart Syndrome 1 58 76 30 13 6
Hlhs1 58 76
Hypoplastic Left Heart Syndrome 74
Hlhs 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive vs. multifactorial


Classifications:



External Ids:

OMIM 58 241550
MeSH 45 D018636
MedGen 43 C0152101
SNOMED-CT via HPO 70 62067003
UMLS 74 C0152101

Summaries for Hypoplastic Left Heart Syndrome 1

OMIM : 58 Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). (241550)

MalaCards based summary : Hypoplastic Left Heart Syndrome 1, also known as hlhs1, is related to hypoplastic left heart syndrome and hemophagocytic lymphohistiocytosis. An important gene associated with Hypoplastic Left Heart Syndrome 1 is GJA1 (Gap Junction Protein Alpha 1). The drugs Sodium Citrate and Bosentan have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotype is hypoplastic left heart.

UniProtKB/Swiss-Prot : 76 Hypoplastic left heart syndrome 1: A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.

Related Diseases for Hypoplastic Left Heart Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 hypoplastic left heart syndrome 32.1 FOXP1 GJA1 HAND1
2 hemophagocytic lymphohistiocytosis 12.2
3 griscelli syndrome, type 2 11.5
4 lymphoproliferative syndrome, x-linked, 2 11.5
5 lymphoproliferative syndrome, x-linked, 1 11.4
6 griscelli syndrome 11.4
7 hypoplastic left heart syndrome 2 11.2
8 hemophagocytic lymphohistiocytosis, familial, 1 11.0
9 macrophage activation syndrome 11.0
10 subcutaneous panniculitis-like t-cell lymphoma 11.0
11 lymphoma 10.2
12 lymphoma, hodgkin, classic 10.1
13 hematopoietic stem cell transplantation 10.0
14 colitis 10.0
15 factor x deficiency 9.9
16 galactorrhea 9.9
17 neuroblastoma 9.9
18 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
19 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.9
20 malaria 9.9
21 myelodysplastic syndrome 9.9
22 infantile liver failure syndrome 1 9.9
23 acute liver failure 9.9
24 anaplastic large cell lymphoma 9.9
25 liver disease 9.9
26 ulcerative colitis 9.9
27 crohn's colitis 9.9
28 arachnoiditis 9.9
29 plasmodium vivax malaria 9.9
30 amenorrhea 9.9
31 histoplasmosis 9.9
32 hypogonadism 9.9
33 histiocytosis 9.9
34 pneumonia 9.9
35 acquired immunodeficiency syndrome 9.9
36 hypogonadotropism 9.9
37 luteoma 9.9
38 herpes simplex 9.9
39 leishmaniasis 9.9
40 amyloidosis 9.9
41 visceral leishmaniasis 9.9
42 cytokine deficiency 9.9
43 leydig cell hypoplasia 9.9
44 cytomegalovirus infection 9.9
45 atrioventricular septal defect 9.8 FOXP1 GJA1
46 tetralogy of fallot 9.6 GJA1 HAND1
47 heart disease 9.4 GJA1 HAND1

Graphical network of the top 20 diseases related to Hypoplastic Left Heart Syndrome 1:



Diseases related to Hypoplastic Left Heart Syndrome 1

Symptoms & Phenotypes for Hypoplastic Left Heart Syndrome 1

Human phenotypes related to Hypoplastic Left Heart Syndrome 1:

33
# Description HPO Frequency HPO Source Accession
1 hypoplastic left heart 33 HP:0004383

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
hypoplastic left heart

Misc:
usually fatal in infancy

Clinical features from OMIM:

241550

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome 1

Drugs for Hypoplastic Left Heart Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 2,Phase 1 68-04-2
2
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
3
Racepinephrine Approved Phase 2 329-65-7 838
4
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
5
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
6
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 77-92-9 311
7 Kava Approved, Investigational, Nutraceutical Phase 2 9000-38-8
8 Epoetin alfa Phase 1, Phase 2 113427-24-0
9 Hematinics Phase 1, Phase 2
10 Sildenafil Citrate Phase 2,Phase 1 171599-83-0
11 Vasodilator Agents Phase 2,Phase 1
12 Citrate Phase 2,Phase 1
13 Phosphodiesterase 5 Inhibitors Phase 2,Phase 1
14 Phosphodiesterase Inhibitors Phase 2,Phase 1
15 Antihypertensive Agents Phase 2
16 Endothelin Receptor Antagonists Phase 2
17 Anesthetics Phase 2
18 Neurotransmitter Agents Phase 2,Phase 1
19 Adrenergic Agents Phase 2,Phase 1
20 Epinephryl borate Phase 2
21
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
22 Analgesics Phase 1
23 Adrenergic alpha-Agonists Phase 1
24 Analgesics, Non-Narcotic Phase 1
25 Hypnotics and Sedatives Phase 1
26 Peripheral Nervous System Agents Phase 1
27 Central Nervous System Depressants Phase 1
28 Adrenergic alpha-2 Receptor Agonists Phase 1
29 Adrenergic Agonists Phase 1
30
Ethanol Approved 64-17-5 702
31
Bupropion Approved 34841-39-9, 34911-55-2 444
32
Dopamine Approved 62-31-7, 51-61-6 681
33
Caffeine Approved 58-08-2 2519
34
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
35 Immunoglobulins
36 Antibodies
37 Immunologic Factors
38 Vitamins ,Not Applicable
39 Psychotropic Drugs
40 Antidepressive Agents, Second-Generation
41 Dopamine Agents
42 Cytochrome P-450 Enzyme Inhibitors
43 Antidepressive Agents
44 Neurotransmitter Uptake Inhibitors
45 Cytochrome P-450 CYP2D6 Inhibitors
46 Dopamine Uptake Inhibitors
47 Antidepressive Agents, Tricyclic
48 Protective Agents Not Applicable
49 Micronutrients Not Applicable
50 Antioxidants Not Applicable

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure Completed NCT01215240 Phase 3
2 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
3 Cardiac Stem/Progenitor Cell Infusion in Univentricular Physiology (APOLLON Trial) Recruiting NCT02781922 Phase 3
4 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Unknown status NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
5 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2 Sildenafil;Placebo
6 Cardiac Progenitor Cell Infusion to Treat Univentricular Heart Disease (PERSEUS) Completed NCT01829750 Phase 2
7 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
8 Intramyocardial Injection of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Repair of Hypoplastic Left Heart Syndrome (AutoCell-S2) Recruiting NCT03779711 Phase 2
9 Longeveron Mesenchymal Stem Cells (LMSCs) Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS) Recruiting NCT03525418 Phase 1, Phase 2
10 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
11 Maternal Hyperoxygenation in Congenital Heart Disease Recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
12 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
13 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
14 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
15 Transcoronary Infusion of Cardiac Progenitor Cells in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
16 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
17 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
18 Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1 Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
19 Allogeneic hMSC Injection in Patients With Hypoplastic Left Heart Syndrome Recruiting NCT02398604 Phase 1 Allo-hMSCs;Placebo
20 Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome Recruiting NCT01883076 Phase 1
21 Safety of Autologous Cord Blood Cells in HLHS Patients During Norwood Heart Surgery Recruiting NCT03431480 Phase 1
22 Autologous Cardiac Stem Cell Injection in Patients With Hypoplastic Left Heart Syndrome: An Open Label Pilot Study. Not yet recruiting NCT03406884 Phase 1 c-kit+ cells;Placebo
23 Safety and Feasibility Study of Umbilical Cord Blood Cells for Infants With Hypoplastic Left Heart Syndrome Suspended NCT01445041 Phase 1
24 Near-infrared Spectroscopy (NIRS) Neurodevelopmental Outcomes Unknown status NCT00464100
25 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Unknown status NCT01107990
26 Comparison of Feeding Strategies for Hypoplastic Left Heart Syndrome Infants Completed NCT02657629 Not Applicable
27 Neurodevelopmental Outcomes in Hypoplastic Left Heart Syndrome Completed NCT00399555
28 Evaluation of Panel Reactive Antibody in Children Following Stage I Palliation for Hypoplastic Left Heart Syndrome Completed NCT01135485
29 Single Ventricle Outcome Completed NCT00308217
30 Fluid Balance in Children Undergoing Fontan Surgery Completed NCT02306057
31 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
32 NIRS in Neonatal Cardiac Surgery Completed NCT00166101
33 Biomarker Study for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
34 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169 Not Applicable
35 Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients Completed NCT00974025 Not Applicable
36 Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876 Not Applicable
37 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Completed NCT02462434 Not Applicable
38 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
39 Association Between a Mother's Exposure to "Strep Throat" and Her Baby's Developing Heart Disease Completed NCT01603732
40 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
41 Cerebral Blood Flow in Single Ventricles Throughout Staged Surgical Reconstruction Completed NCT02135081
42 Umbilical Cord Blood Collection and Processing for Cardiac Regeneration in Hypoplastic Left Heart Syndrome Patients Recruiting NCT01856049 Not Applicable
43 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Recruiting NCT01708863
44 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956 Not Applicable
45 Cerebral Anatomy, Hemodynamics and Metabolism Recruiting NCT02919956
46 Cardiac Biomarkers in Patients With Single Ventricle Physiology Recruiting NCT03678909
47 National Collaborative to Improve Care of Children With Complex Congenital Heart Disease Recruiting NCT02852031
48 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Recruiting NCT03147014 Not Applicable
49 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
50 Splanchnic and Renal Tissue Oxygenation During Enteral Feedings in Neonates With Patent Ductus Arteriosus Recruiting NCT03551600

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Hypoplastic Left Heart Syndrome 1

Genetic tests related to Hypoplastic Left Heart Syndrome 1:

# Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome 1 30

Anatomical Context for Hypoplastic Left Heart Syndrome 1

MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome 1:

42
Heart, Brain, Lung, Endothelial, Liver, Kidney, Neutrophil

Publications for Hypoplastic Left Heart Syndrome 1

Articles related to Hypoplastic Left Heart Syndrome 1:

(show top 50) (show all 1259)
# Title Authors Year
1
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'. ( 30617253 )
2019
2
Double-outlet right ventricle is not hypoplastic left heart syndrome. ( 30617254 )
2019
3
Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease? ( 30813450 )
2019
4
Hypoplastic left heart syndrome: the importance of phenotypic diagnosis. ( 30814147 )
2019
5
Morphogenetic clarity in considerations of hypoplastic left heart syndrome. ( 30814148 )
2019
6
Dynamic Three-Dimensional Geometry of the Tricuspid Valve Annulus in Hypoplastic Left Heart Syndrome with a Fontan Circulation. ( 30826226 )
2019
7
Fetal aortic valvuloplasty to prevent progression to hypoplastic left heart syndrome in utero. ( 30868768 )
2019
8
Right Ventricular Mechanical Dyssynchrony in Hypoplastic Left Heart Syndrome: Correlation with Systolic Function and QRS Duration. ( 30895330 )
2019
9
Neo-aortic insufficiency late after staged reconstruction for hypoplastic left heart syndrome: impact of differences in initial palliative procedures. ( 30915524 )
2019
10
Anomalous Origin of Left Coronary Artery From Aortic Arch Associated With Hypoplastic Left Heart Syndrome. ( 29890146 )
2019
11
Interrelationship between hemodynamics, brain volumes and outcome in Hypoplastic Left Heart Syndrome. ( 30639363 )
2019
12
Changing Epidemiology of Hypoplastic Left Heart Syndrome: Results of a National Swedish Cohort Study. ( 30661430 )
2019
13
Intracoronary recombinant tissue plasminogen activator in an infant with hypoplastic left heart syndrome and complete left main coronary artery thrombosis. ( 30702202 )
2019
14
Innovative 2-Step Management Strategy Utilizing EXIT Procedure for a Fetus With Hypoplastic Left Heart Syndrome and Intact Atrial Septum. ( 30711131 )
2019
15
Prenatally diagnosed foramen ovale restriction in fetuses with hypoplastic left heart syndrome may be a predictor of longer hospitalization, but not of a need for an urgent rashkind procedure. ( 30756368 )
2019
16
Serial Strain Analysis Identifies Hypoplastic Left Heart Syndrome Infants at Risk for Cardiac Morbidity and Mortality: A Pilot Study. ( 30803862 )
2019
17
Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated with Congenital Diaphragmatic Hernia: an Algorithmic Approach. ( 29448010 )
2018
18
Surgery for hypoplastic left heart syndrome. Taking the long view. ( 29248162 )
2018
19
Long term survival of hypoplastic left heart syndrome infants: Meta-analysis comparing outcomes from the modified Blalock-Taussig shunt and the right ventricle to pulmonary artery shunt. ( 29407078 )
2018
20
The grief and coping of parents whose child has a constant life-threatening disability, hypoplastic left heart syndrome with reference to the dual process model. ( 29338622 )
2018
21
Right Ventricular Systolic Function Parameters in Hypoplastic Left Heart Syndrome. ( 29777281 )
2018
22
Longitudinal Deformation of the Right Ventricle in Hypoplastic Left Heart Syndrome: A Comparative Study of 2D-Feature Tracking Magnetic Resonance Imaging and 2D-Speckle Tracking Echocardiography. ( 29748699 )
2018
23
Cerebral abscess in a young adult with hypoplastic left heart syndrome. ( 29803061 )
2018
24
Mortality in Children With Hypoplastic Left Heart Syndrome Undergoing Tracheostomy. ( 29685241 )
2018
25
Hypoplastic left heart syndrome management. ( 29631801 )
2018
26
Prolonged PR Interval at Birth Predicting the High Occurrence of Fatal Atrioventricular Block in Hypoplastic Left Heart Syndrome. ( 29350247 )
2018
27
The Genetic Landscape of Hypoplastic Left Heart Syndrome. ( 29569026 )
2018
28
Surgical Palliation for Hypoplastic Left Heart Syndrome: For Now, Just Keep Doing What You Do Best. ( 29784679 )
2018
29
Necrotizing Enterocolitis in Infants with Hypoplastic Left Heart Syndrome Following Stage 1 Palliation or Heart Transplant. ( 29392349 )
2018
30
Longitudinal Health Care Cost in Hypoplastic Left Heart Syndrome Palliation. ( 29774394 )
2018
31
Early results of aortic arch reconstruction and bilateral pulmonary arteries banding: modification of the Norwood operation for treatment of hypoplastic left heart syndrome. ( 29350395 )
2018
32
Giessen Procedure as Comprehensive Stage II Palliation With Aortic Arch Reconstruction After Hybrid Bilateral Pulmonary Artery Banding and Ductal Stenting for Hypoplastic Left Heart Syndrome. ( 29425520 )
2018
33
Hypoplastic Left Heart Syndrome With a Hypoplastic Lung in Congenital Diaphragmatic Hernia: What Should Be Done First? ( 29702180 )
2018
34
Gastrostomy tube placement among infants with hypoplastic left heart syndrome undergoing stage 1 palliation. ( 29756326 )
2018
35
Prognostic value of troponin in infants with hypoplastic left heart syndrome between Stage I and II of palliation. ( 29440831 )
2018
36
Interventional treatments and risk factors in patients born with hypoplastic left heart syndrome in England and Wales from 2000 to 2015. ( 29371373 )
2018
37
Hybrid strategies for high-risk non-hypoplastic left heart syndrome patients. ( 29896780 )
2018
38
Three-dimensional echocardiographic evaluation of Ebstein's anomaly of the tricuspid valve in a patient with hypoplastic left heart syndrome. ( 29679990 )
2018
39
Outcomes and risk factors associated with tricuspid valve repair in children with hypoplastic left heart syndrome. ( 29788322 )
2018
40
Stem Cell Therapy for Hypoplastic Left Heart Syndrome: Mechanism, Clinical Application, and Future Directions. ( 29976693 )
2018
41
Early Outcomes of Hypoplastic Left Heart Syndrome Infants: Meta-Analysis of Studies Comparing the Hybrid and Norwood Procedures. ( 29544421 )
2018
42
Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland. ( 29215158 )
2018
43
Successful use of a ventricular assist device in a neonate with hypoplastic left heart syndrome with right ventricular dysfunction. ( 29970231 )
2018
44
Reduced Right Ventricular Fractional Area Change, Strain, and Strain Rate before Bidirectional Cavopulmonary Anastomosis is Associated with Medium-Term Mortality for Children with Hypoplastic Left Heart Syndrome. ( 29655509 )
2018
45
Regional Differences in Cost and Length of Stay in Neonates with Hypoplastic Left Heart Syndrome. ( 29754202 )
2018
46
Novel aortic arch reconstruction using a modified Norwood procedure based on hypoplastic left heart syndrome-specific anatomical malformations. ( 29546398 )
2018
47
The risk of overzealous application of hybrid strategies for patients with biventricular cardiac anomalies: Invited commentary regarding: "Hybrid Strategies for High-Risk Non-Hypoplastic Left Heart Syndrome Patients". ( 29900667 )
2018
48
A potentially curative fetal intervention for hypoplastic left heart syndrome. ( 29317056 )
2018
49
Differences in midterm outcomes in infants with hypoplastic left heart syndrome diagnosed with necrotizing enterocolitis: NPCQIC database analysis. ( 29524308 )
2018
50
Cerebrovascular response to maternal hyperoxygenation in fetuses with hypoplastic left heart syndrome depends on gestational age and baseline cerebrovascular resistance. ( 28976608 )
2018

Variations for Hypoplastic Left Heart Syndrome 1

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome 1:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.5(GJA1): c.1085G> A (p.Arg362Gln) single nucleotide variant Uncertain significance rs2227885 GRCh37 Chromosome 6, 121769078: 121769078
2 GJA1 NM_000165.5(GJA1): c.1085G> A (p.Arg362Gln) single nucleotide variant Uncertain significance rs2227885 GRCh38 Chromosome 6, 121447932: 121447932
3 GJA1 NM_000165.5(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh37 Chromosome 6, 121769120: 121769120
4 GJA1 NM_000165.5(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh38 Chromosome 6, 121447974: 121447974
5 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh37 Chromosome 3, 71019907: 71019907
6 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh38 Chromosome 3, 70970756: 70970756
7 GJA1 NM_000165.5(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh37 Chromosome 6, 121768710: 121768710
8 GJA1 NM_000165.5(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh38 Chromosome 6, 121447564: 121447564
9 HAND1 NM_004821.2(HAND1): c.587A> G (p.Lys196Arg) single nucleotide variant Uncertain significance rs878854747 GRCh37 Chromosome 5, 153855427: 153855427
10 HAND1 NM_004821.2(HAND1): c.587A> G (p.Lys196Arg) single nucleotide variant Uncertain significance rs878854747 GRCh38 Chromosome 5, 154475867: 154475867
11 HAND1 NM_004821.2(HAND1): c.289G> T (p.Gly97Cys) single nucleotide variant Uncertain significance rs878854746 GRCh37 Chromosome 5, 153857280: 153857280
12 HAND1 NM_004821.2(HAND1): c.289G> T (p.Gly97Cys) single nucleotide variant Uncertain significance rs878854746 GRCh38 Chromosome 5, 154477720: 154477720
13 HAND1 NM_004821.2(HAND1): c.247G> T (p.Gly83Trp) single nucleotide variant Benign/Likely benign rs201302313 GRCh37 Chromosome 5, 153857322: 153857322
14 HAND1 NM_004821.2(HAND1): c.247G> T (p.Gly83Trp) single nucleotide variant Benign/Likely benign rs201302313 GRCh38 Chromosome 5, 154477762: 154477762
15 GJA1 NM_000165.5(GJA1): c.*3dup duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
16 GJA1 NM_000165.5(GJA1): c.*3dup duplication Benign rs397824185 GRCh38 Chromosome 6, 121447999: 121447999
17 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
18 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
19 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
20 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
21 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
22 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
23 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
24 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
25 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
26 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
27 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
28 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
29 GJA1 NM_000165.5(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
30 GJA1 NM_000165.5(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
31 GJA1 NM_000165.5(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
32 GJA1 NM_000165.5(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
33 GJA1 NM_000165.5(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
34 GJA1 NM_000165.5(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
35 GJA1 NM_000165.5(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
36 GJA1 NM_000165.5(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
37 GJA1 NM_000165.5(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
38 GJA1 NM_000165.5(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
39 GJA1 NM_000165.5(GJA1): c.*772_*773dup duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
40 GJA1 NM_000165.5(GJA1): c.*772_*773dup duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915
41 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
42 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
43 GJA1 NM_000165.5(GJA1): c.*773dup duplication Benign rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
44 GJA1 NM_000165.5(GJA1): c.*773dup duplication Benign rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
45 GJA1 NM_000165.5(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh38 Chromosome 6, 121448964: 121448964
46 GJA1 NM_000165.5(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh37 Chromosome 6, 121770110: 121770110
47 GJA1 NM_000165.5(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh37 Chromosome 6, 121770185: 121770185
48 GJA1 NM_000165.5(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh38 Chromosome 6, 121449039: 121449039
49 GJA1 NM_000165.5(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh37 Chromosome 6, 121756807: 121756807
50 GJA1 NM_000165.5(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh38 Chromosome 6, 121435661: 121435661

Expression for Hypoplastic Left Heart Syndrome 1

Search GEO for disease gene expression data for Hypoplastic Left Heart Syndrome 1.

Pathways for Hypoplastic Left Heart Syndrome 1

GO Terms for Hypoplastic Left Heart Syndrome 1

Biological processes related to Hypoplastic Left Heart Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.32 GJA1 HAND1
2 in utero embryonic development GO:0001701 9.26 GJA1 HAND1
3 response to lipopolysaccharide GO:0032496 9.16 FOXP1 GJA1
4 heart looping GO:0001947 8.96 GJA1 HAND1
5 embryonic heart tube development GO:0035050 8.62 GJA1 HAND1

Sources for Hypoplastic Left Heart Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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