MCID: HYP543
MIFTS: 42

Hypoplastic Left Heart Syndrome 1

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome 1

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome 1:

Name: Hypoplastic Left Heart Syndrome 1 57 75 29 13 6
Hlhs1 57 75
Hypoplastic Left Heart Syndrome 73
Hlhs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. multifactorial


Classifications:



External Ids:

OMIM 57 241550
MedGen 42 C0152101
MeSH 44 D018636
SNOMED-CT via HPO 69 62067003

Summaries for Hypoplastic Left Heart Syndrome 1

OMIM : 57 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 Bosentan and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and brain, and related phenotype is hypoplastic left heart.

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
hypoplastic left heart

Misc:
usually fatal in infancy


Clinical features from OMIM:

241550

Human phenotypes related to Hypoplastic Left Heart Syndrome 1:

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

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome 1

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

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

Interventional clinical trials:

(show top 50) (show all 60)
# 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 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2 Sildenafil;Placebo
5 Cardiac Progenitor Cell Infusion to Treat Univentricular Heart Disease (PERSEUS) Completed NCT01829750 Phase 2
6 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
7 Longeveron Mesenchymal Stem Cells (LMSCs) Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS) Recruiting NCT03525418 Phase 1, Phase 2
8 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
9 Maternal Hyperoxygenation in Congenital Heart Disease Recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
10 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
11 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Active, not recruiting NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
12 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
13 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
14 Transcoronary Infusion of Cardiac Progenitor Cells in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
15 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
16 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
17 Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1 Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
18 Allogeneic hMSC Injection in Patients With Hypoplastic Left Heart Syndrome Recruiting NCT02398604 Phase 1 Allo-hMSCs;Placebo
19 Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome Recruiting NCT01883076 Phase 1
20 Safety of Autologous Cord Blood Cells in HLHS Patients During Norwood Heart Surgery Recruiting NCT03431480 Phase 1
21 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
22 Safety and Feasibility Study of Umbilical Cord Blood Cells for Infants With Hypoplastic Left Heart Syndrome Suspended NCT01445041 Phase 1
23 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Unknown status NCT01708863
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 NIRS in Neonatal Cardiac Surgery Completed NCT00166101
30 Single Ventricle Outcome Completed NCT00308217
31 Fluid Balance in Children Undergoing Fontan Surgery Completed NCT02306057
32 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
33 Biomarker Study for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
34 Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients Completed NCT00974025 Not Applicable
35 Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876 Not Applicable
36 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Completed NCT02462434 Not Applicable
37 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
38 Association Between a Mother's Exposure to "Strep Throat" and Her Baby's Developing Heart Disease Completed NCT01603732
39 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
40 Cerebral Blood Flow in Single Ventricles Throughout Staged Surgical Reconstruction Completed NCT02135081
41 Umbilical Cord Blood Collection and Processing for Cardiac Regeneration in Hypoplastic Left Heart Syndrome Patients Recruiting NCT01856049 Not Applicable
42 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956 Not Applicable
43 Cerebral Anatomy, Hemodynamics and Metabolism Recruiting NCT02919956
44 National Collaborative to Improve Care of Children With Complex Congenital Heart Disease Recruiting NCT02852031
45 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Recruiting NCT02184169 Not Applicable
46 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
47 A Pilot Study- Monitoring Cerebral Blood Flow in Neonates With Congenital Heart Defects Recruiting NCT03512613
48 Splanchnic and Renal Tissue Oxygenation During Enteral Feedings in Neonates With Patent Ductus Arteriosus Recruiting NCT03551600
49 Family Adaptation Study Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn Active, not recruiting NCT00734643
50 SVRII Family Factors Study Active, not recruiting NCT01582529

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 GJA1

Anatomical Context for Hypoplastic Left Heart Syndrome 1

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

41
Heart, Endothelial, Brain, Lung, Neutrophil, Liver, Kidney

Publications for Hypoplastic Left Heart Syndrome 1

Articles related to Hypoplastic Left Heart Syndrome 1:

(show top 50) (show all 750)
# Title Authors Year
1
Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated with Congenital Diaphragmatic Hernia: an Algorithmic Approach. ( 29448010 )
2018
2
Surgery for hypoplastic left heart syndrome. Taking the long view. ( 29248162 )
2018
3
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
4
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
5
Right Ventricular Systolic Function Parameters in Hypoplastic Left Heart Syndrome. ( 29777281 )
2018
6
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
7
Cerebral abscess in a young adult with hypoplastic left heart syndrome. ( 29803061 )
2018
8
Mortality in Children With Hypoplastic Left Heart Syndrome Undergoing Tracheostomy. ( 29685241 )
2018
9
Hypoplastic left heart syndrome management. ( 29631801 )
2018
10
Prolonged PR Interval at Birth Predicting the High Occurrence of Fatal Atrioventricular Block in Hypoplastic Left Heart Syndrome. ( 29350247 )
2018
11
The Genetic Landscape of Hypoplastic Left Heart Syndrome. ( 29569026 )
2018
12
Surgical Palliation for Hypoplastic Left Heart Syndrome: For Now, Just Keep Doing What You Do Best. ( 29784679 )
2018
13
Necrotizing Enterocolitis in Infants with Hypoplastic Left Heart Syndrome Following Stage 1 Palliation or Heart Transplant. ( 29392349 )
2018
14
Longitudinal Health Care Cost in Hypoplastic Left Heart Syndrome Palliation. ( 29774394 )
2018
15
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
16
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
17
Hypoplastic Left Heart Syndrome With a Hypoplastic Lung in Congenital Diaphragmatic Hernia: What Should Be Done First? ( 29702180 )
2018
18
Gastrostomy tube placement among infants with hypoplastic left heart syndrome undergoing stage 1 palliation. ( 29756326 )
2018
19
Prognostic value of troponin in infants with hypoplastic left heart syndrome between Stage I and II of palliation. ( 29440831 )
2018
20
Interventional treatments and risk factors in patients born with hypoplastic left heart syndrome in England and Wales from 2000 to 2015. ( 29371373 )
2018
21
Hybrid strategies for high-risk non-hypoplastic left heart syndrome patients. ( 29896780 )
2018
22
Three-dimensional echocardiographic evaluation of Ebstein's anomaly of the tricuspid valve in a patient with hypoplastic left heart syndrome. ( 29679990 )
2018
23
Outcomes and risk factors associated with tricuspid valve repair in children with hypoplastic left heart syndrome. ( 29788322 )
2018
24
Stem Cell Therapy for Hypoplastic Left Heart Syndrome: Mechanism, Clinical Application, and Future Directions. ( 29976693 )
2018
25
Early Outcomes of Hypoplastic Left Heart Syndrome Infants: Meta-Analysis of Studies Comparing the Hybrid and Norwood Procedures. ( 29544421 )
2018
26
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
27
Successful use of a ventricular assist device in a neonate with hypoplastic left heart syndrome with right ventricular dysfunction. ( 29970231 )
2018
28
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
29
Regional Differences in Cost and Length of Stay in Neonates with Hypoplastic Left Heart Syndrome. ( 29754202 )
2018
30
Novel aortic arch reconstruction using a modified Norwood procedure based on hypoplastic left heart syndrome-specific anatomical malformations. ( 29546398 )
2018
31
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
32
A potentially curative fetal intervention for hypoplastic left heart syndrome. ( 29317056 )
2018
33
Modified Hybrid Procedure in Hypoplastic Left Heart Syndrome: Initial Experience of a Center in Northeastern Brazil. ( 28832800 )
2017
34
Hypoplastic Left Heart Syndrome Is Not a Predictor of Worse Intermediate Mortality Post Fontan. ( 29096870 )
2017
35
NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis. ( 28142228 )
2017
36
Recoarctation After Norwood I Procedure for Hypoplastic Left Heart Syndrome: Impact of Patch Material. ( 28024650 )
2017
37
Effect of acid-base balance on postoperative course in children with hypoplastic left heart syndrome after the modified Norwood procedure. ( 28834879 )
2017
38
Tricuspid Valve Hemangioma Associated with Hypoplastic Left Heart Syndrome Presenting as Sudden Infant Death Syndrome. ( 28272668 )
2017
39
Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. ( 28608148 )
2017
40
Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort Analysis. ( 28921168 )
2017
41
Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound. ( 28254208 )
2017
42
Hypoplastic left heart syndrome and the allure of a valved conduit. ( 29370913 )
2017
43
Right ventricular systolic function in hypoplastic left heart syndrome: A comparison of manual and automated software to measure fractional area change. ( 28191731 )
2017
44
Management of Tricuspid Regurgitation in Patients With Hypoplastic Left Heart Syndrome. ( 28684000 )
2017
45
Relationship Between Cavum Septi Pellucidi Measurements and Fetal Hypoplastic Left Heart Syndrome or Dextro-Transposition of the Great Arteries. ( 29280178 )
2017
46
Hypoplastic Left Heart Syndrome with Congenital Complete Heart Block. ( 28512719 )
2017
47
Acute kidney injury following first-stage palliation in hypoplastic left heart syndrome: hybrid versus Norwood palliation. ( 28889833 )
2017
48
Effectiveness of interstage home monitoring on healthcare outcomes in infants with hypoplastic left heart syndrome: a systematic review protocol. ( 29035962 )
2017
49
Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective. ( 28793912 )
2017
50
Hypoplastic Left Heart Syndrome with Intact or Restrictive Atrial Septum: A Report from the International Fetal Cardiac Intervention Registry. ( 28864444 )
2017

Variations for Hypoplastic Left Heart Syndrome 1

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome 1:

6
(show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh37 Chromosome 6, 121769120: 121769120
2 GJA1 NM_000165.4(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh38 Chromosome 6, 121447974: 121447974
3 HAND1 NM_004821.2(HAND1): c.587A> G (p.Lys196Arg) single nucleotide variant Uncertain significance rs878854747 GRCh37 Chromosome 5, 153855427: 153855427
4 HAND1 NM_004821.2(HAND1): c.587A> G (p.Lys196Arg) single nucleotide variant Uncertain significance rs878854747 GRCh38 Chromosome 5, 154475867: 154475867
5 HAND1 NM_004821.2(HAND1): c.289G> T (p.Gly97Cys) single nucleotide variant Uncertain significance rs878854746 GRCh37 Chromosome 5, 153857280: 153857280
6 HAND1 NM_004821.2(HAND1): c.289G> T (p.Gly97Cys) single nucleotide variant Uncertain significance rs878854746 GRCh38 Chromosome 5, 154477720: 154477720
7 HAND1 NM_004821.2(HAND1): c.247G> T (p.Gly83Trp) single nucleotide variant Benign/Likely benign rs201302313 GRCh37 Chromosome 5, 153857322: 153857322
8 HAND1 NM_004821.2(HAND1): c.247G> T (p.Gly83Trp) single nucleotide variant Benign/Likely benign rs201302313 GRCh38 Chromosome 5, 154477762: 154477762
9 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
10 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh38 Chromosome 6, 121447999: 121447999
11 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
12 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
13 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
14 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
15 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
16 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
17 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
18 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
19 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
20 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
21 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
22 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
23 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
24 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
25 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
26 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
27 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
28 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
29 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
30 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
31 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
32 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
33 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
34 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915
35 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh38 Chromosome 6, 121448769: 121448769
36 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh37 Chromosome 6, 121769915: 121769915
37 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
38 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
39 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh38 Chromosome 6, 121448964: 121448964
40 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh37 Chromosome 6, 121770110: 121770110
41 GJA1 NM_000165.4(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh37 Chromosome 6, 121770185: 121770185
42 GJA1 NM_000165.4(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh38 Chromosome 6, 121449039: 121449039
43 GJA1 NM_000165.4(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh37 Chromosome 6, 121756807: 121756807
44 GJA1 NM_000165.4(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh38 Chromosome 6, 121435661: 121435661
45 GJA1 NM_000165.4(GJA1): c.270C> G (p.Leu90=) single nucleotide variant Uncertain significance rs886061009 GRCh37 Chromosome 6, 121768263: 121768263
46 GJA1 NM_000165.4(GJA1): c.270C> G (p.Leu90=) single nucleotide variant Uncertain significance rs886061009 GRCh38 Chromosome 6, 121447117: 121447117
47 GJA1 NM_000165.4(GJA1): c.456G> A (p.Leu152=) single nucleotide variant Likely benign rs72548741 GRCh37 Chromosome 6, 121768449: 121768449
48 GJA1 NM_000165.4(GJA1): c.456G> A (p.Leu152=) single nucleotide variant Likely benign rs72548741 GRCh38 Chromosome 6, 121447303: 121447303
49 GJA1 NM_000165.4(GJA1): c.*214G> A single nucleotide variant Likely benign rs549064986 GRCh37 Chromosome 6, 121769356: 121769356
50 GJA1 NM_000165.4(GJA1): c.*214G> A single nucleotide variant Likely benign rs549064986 GRCh38 Chromosome 6, 121448210: 121448210

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 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
Content
Loading form....