HLHS1
MCID: HYP543
MIFTS: 41

Hypoplastic Left Heart Syndrome 1 (HLHS1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory 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 74 29 13 6
Hlhs1 57 74
Hypoplastic Left Heart Syndrome 72
Hlhs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. multifactorial


HPO:

32
hypoplastic left heart syndrome 1:
Inheritance autosomal recessive inheritance oligogenic inheritance


Classifications:



External Ids:

MeSH 44 D018636
UMLS 72 C0152101

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 Natriuretic Agents and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and testes, and related phenotypes are coarctation of aorta and hypoplastic left heart

UniProtKB/Swiss-Prot : 74 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 top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 hypoplastic left heart syndrome 32.0 HAND1 GJA1 FOXP1
2 hemophagocytic lymphohistiocytosis 12.3
3 lymphoproliferative syndrome, x-linked, 1 11.9
4 griscelli syndrome, type 2 11.6
5 griscelli syndrome 11.6
6 macrophage activation syndrome 11.5
7 hemophagocytic lymphohistiocytosis, familial, 1 11.5
8 t-cell lymphoma, subcutaneous panniculitis-like 11.4
9 lymphoproliferative syndrome, x-linked, 2 11.3
10 hypoplastic left heart syndrome 2 11.3
11 webb-dattani syndrome 11.1
12 helix syndrome 10.7
13 pancytopenia 10.4
14 splenomegaly 10.3
15 hematopoietic stem cell transplantation 10.3
16 hypertriglyceridemia, familial 10.3
17 lymphocytic choriomeningitis 10.2
18 autoimmune disease 10.2
19 chediak-higashi syndrome 10.1
20 lymphoma, hodgkin, classic 10.1
21 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
22 colitis 10.1
23 neutropenia 10.1
24 thrombocytopenia 10.1
25 secondary hemophagocytic lymphohistiocytosis 10.1
26 pfeiffer syndrome 10.0
27 retinoblastoma 10.0
28 immune deficiency disease 10.0
29 hemophagocytic lymphohistiocytosis, familial, 2 10.0
30 kala-azar 1 10.0
31 graft-versus-host disease 10.0
32 autosomal recessive disease 10.0
33 lymphoma 10.0
34 cardiac arrest 10.0
35 microphthalmia 10.0
36 respiratory failure 10.0
37 toxic shock syndrome 10.0
38 rheumatic disease 10.0
39 histiocytosis 10.0
40 familial retinoblastoma 10.0
41 ulcerative colitis 10.0
42 leishmaniasis 10.0
43 visceral leishmaniasis 10.0
44 acute graft versus host disease 10.0
45 cytokine deficiency 10.0
46 primary hemophagocytic lymphohistiocytosis 10.0
47 saethre-chotzen syndrome 9.9
48 paragangliomas 1 9.9
49 pheochromocytoma 9.9
50 spinal arachnoiditis 9.9

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:

32
# Description HPO Frequency HPO Source Accession
1 coarctation of aorta 32 very rare (1%) HP:0001680
2 hypoplastic left heart 32 very rare (1%) HP:0004383
3 aortic valve stenosis 32 very rare (1%) HP:0001650

Symptoms via clinical synopsis from OMIM:

57
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 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Agents Phase 2, Phase 3
2 Coagulants Phase 2, Phase 3
3 Hemostatics Phase 2, Phase 3
4 Arginine Vasopressin Phase 2, Phase 3
5 arginine Phase 2, Phase 3
6 Vasopressins Phase 2, Phase 3
7 Vasoconstrictor Agents Phase 2, Phase 3
8
Sodium citrate Approved, Investigational Phase 2 68-04-2
9
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
10
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
11
Racepinephrine Approved Phase 2 329-65-7 838
12
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
14 Kava Approved, Investigational, Nutraceutical Phase 2 9000-38-8
15 Hematinics Phase 1, Phase 2
16 Epoetin alfa Phase 1, Phase 2 113427-24-0
17 Sildenafil Citrate Phase 2 171599-83-0
18 Citrate Phase 2
19 Phosphodiesterase Inhibitors Phase 2
20 Phosphodiesterase 5 Inhibitors Phase 2
21 Endothelin Receptor Antagonists Phase 2
22 Epinephryl borate Phase 2
23
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
24
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
25 Hormones Phase 1
26 Androgens Phase 1
27 Anabolic Agents Phase 1
28 Hormone Antagonists Phase 1
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
30 Analgesics Phase 1
31 Adrenergic alpha-2 Receptor Agonists Phase 1
32 Adrenergic Agonists Phase 1
33 Adrenergic alpha-Agonists Phase 1
34 Peripheral Nervous System Agents Phase 1
35 Analgesics, Non-Narcotic Phase 1
36 Hypnotics and Sedatives Phase 1
37 Central Nervous System Depressants Phase 1
38
Dopamine Approved 51-61-6, 62-31-7 681
39
Ethanol Approved 64-17-5 702
40
Bupropion Approved 34841-39-9, 34911-55-2 444
41
Caffeine Approved 58-08-2 2519
42
Vitamin C Approved, Nutraceutical 50-81-7 54670067 5785
43 Antibodies
44 Immunologic Factors
45 Immunoglobulins
46 Antidepressive Agents
47 Cytochrome P-450 CYP2D6 Inhibitors
48 Antidepressive Agents, Second-Generation
49 Neurotransmitter Uptake Inhibitors
50 Cytochrome P-450 Enzyme Inhibitors

Interventional clinical trials:

(show top 50) (show all 77)
# Name Status NCT ID Phase Drugs
1 Trial of Right Ventricular Versus Modified Blalock-Taussig Shunt in Infants With Single Ventricle Defect Undergoing Staged Reconstruction (A Trial Conducted by the Pediatric Heart Network) Completed NCT00115934 Phase 3
2 Use of Arginine Vasopressin in Early Postoperative Management After Fontan Palliation Completed NCT03088345 Phase 2, Phase 3 Vasopressin, Arginine;Placebos
3 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
4 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Unknown status NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
5 Phase 2 Study of Intracoronary Infusion of Cardiac Progenitor Cells in Patients With Univentricular Heart Disease Completed NCT01829750 Phase 2
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 The Sildenafil After Fontan Operation Study Completed NCT00507819 Phase 2 Sildenafil;Placebo
8 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) Recruiting NCT03779711 Phase 2
9 Allogeneic Human MEsenchymal Stem Cell (MSC) Injection in Patients With Hypoplastic Left Heart Syndrome: A Phase I/II Study (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 Safety, Pharmacokinetics (PK) and Hemodynamic Effects of Ambrisentan in Single Ventricle Pediatric Patients Active, not recruiting NCT02080637 Phase 2 Ambrisentan
13 Pilot Study to Assess the Efficacy of Autologous Umbilical Cord Blood Treatment of Brain and Heart Injury in Neonates With Congenital Heart Defect Not yet recruiting NCT03558269 Phase 1, Phase 2
14 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
15 A Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants After Cardiac Surgery Unknown status NCT01048632 Phase 1 Oxandrolone
16 Phase I Study of Cardiac Progenitor Cell Therapy in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
17 Safety, Pharmacokinetics and Hemodynamic Efficacy of Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1 Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
18 The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
19 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
20 Safety Study of Autologous Cord Blood Stem Cell Treatment in Hypoplastic Left Heart Syndrome Patients Undergoing the Norwood Heart Operation Recruiting NCT03431480 Phase 1
21 Phase I Safety Study of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Stage II Palliation of Hypoplastic Left Heart Syndrome Recruiting NCT01883076 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 Autologous Cord Blood Cells for Patients With HLHS: Phase I Study of Feasibility and Safety Suspended NCT01445041 Phase 1
24 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
25 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Unknown status NCT01107990
26 Abnormal Neurodevelopment Detection in Congenital Heart Disease: Predictive Methods Based on Prenatal and Postnatal Factors. Unknown status NCT02996630
27 Neurodevelopmental Outcomes in Hypoplastic Left Heart Syndrome—Correlation With Cerebral Non-invasive Infrared Spectroscopy (NIRS) Completed NCT00399555
28 Comparison of Feeding Strategies After Stage 1 Procedures for Hypoplastic Left Heart Syndrome Infants: A Randomized Controlled Trial Completed NCT02657629
29 Evaluation of Panel Reactive Antibody in Children Following Stage I Palliation for Hypoplastic Left Heart Syndrome Completed NCT01135485
30 Neurodevelopmental Outcomes and Postoperative Hemodynamics in Children With Hypoplastic Left Heart Syndrome Completed NCT00464100
31 Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure Completed NCT01215240
32 Evaluation of Maternal B-hemolytic Streptococcal Pharyngeal Exposure in Pregnancies Affected by Congenital Heart Disease(CHD) Completed NCT01603732
33 The Examination of Outcome in Children With Single Ventricle Physiology Completed NCT00308217
34 Computer Modeling of Congenital Heart Disease Completed NCT00366847
35 Identification of Biomarkers for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
36 Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy Completed NCT00165984
37 Interstitial Colloid Osmotic Pressure in Children With Congenital Heart Defect Preparing for Fontan Surgery Undergoing Preoperative Catheterization and Surgery in General Anesthesia Completed NCT02306057
38 Near Infrared Spectroscopy Monitoring of Cerebral Oxygen Saturation in Neonatal Cardiac Surgery - Comparison With Common Methods of Estimating Adequate Systemic Perfusion Completed NCT00166101
39 Randomized Controlled Trial on Deep Hypothermic Circulatory Arrest Versus Antegrade Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
40 Bupropion and Cardiac Birth Defects (Slone Epidemiology Center) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
41 A Magnetic Resonance Imaging Study to Determine Cerebral Blood Flow Changes in Single Ventricle Patients During Staged Reconstruction as Compared to Normal Children Completed NCT02135081
42 Vitamin C May Improve Endothelial Function and Exercise Capacity in Functional Single Ventricle Patients After Fontan Palliation Completed NCT00974025
43 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
44 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169
45 A Retrospective Study of Hypoxemia in Infants After Palliative Neonatal Surgery for Congenital Heart Disease Completed NCT00327977
46 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Requiring Neonatal Surgery Completed NCT02462434
47 Umbilical Cord Blood Collection and Processing for Cardiac Regeneration in Hypoplastic Left Heart Syndrome Patients Recruiting NCT01856049
48 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Recruiting NCT01708863
49 National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) - A Collaborative Initiative to Improve Care of Children With Complex Congenital Heart Disease Recruiting NCT02852031
50 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Alprostadil

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, Brain, Testes, Endothelial

Publications for Hypoplastic Left Heart Syndrome 1

Articles related to Hypoplastic Left Heart Syndrome 1:

(show all 14)
# Title Authors PMID Year
1
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). 8 71
11470490 2001
2
The complex genetics of hypoplastic left heart syndrome. 8
28530678 2017
3
Autosomal dominant inheritance of left ventricular outflow tract obstruction. 8
15712195 2005
4
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. 8
15690347 2005
5
Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries. 8
14708093 2004
6
Inheritance of hypoplastic left heart syndrome (HLHS): further observations. 8
1248182 1976
7
Hypoplastic left heart syndrome: an autosomal recessive disorder. 8
5111754 1971
8
Hypoplastic-left-heart syndrome in siblings. 8
4185446 1969
9
Congenital aortic atresia and hypoplasia of the aortic orifice; case reports on two members of a family. 8
13050604 1953
10
Right ventricular and tricuspid valve remodeling after bidirectional cavopulmonary anastomosis. 38
23877731 2013
11
The implementation of neonatal peritoneal dialysis in a clinical setting. 38
22420616 2012
12
Congenital heart disease in infants of diabetic mothers: echocardiographic study. 38
14648003 2004
13
Heart transplantation in neonates and in children. 38
1576137 1992
14
Pediatric heart transplantation after operations involving the pulmonary arteries. 38
1881178 1991

Variations for Hypoplastic Left Heart Syndrome 1

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome 1:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GJA1 NM_000165.5(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 6:121769120-121769120 6:121447974-121447974
2 HAND1 NM_004821.3(HAND1): c.289G> T (p.Gly97Cys) single nucleotide variant Uncertain significance rs878854746 5:153857280-153857280 5:154477720-154477720
3 HAND1 NM_004821.3(HAND1): c.587A> G (p.Lys196Arg) single nucleotide variant Uncertain significance rs878854747 5:153855427-153855427 5:154475867-154475867
4 GJA1 NM_000165.5(GJA1): c.1085G> A (p.Arg362Gln) single nucleotide variant Uncertain significance rs2227885 6:121769078-121769078 6:121447932-121447932
5 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 6:121769189-121769189 6:121448043-121448043
6 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 6:121769333-121769333 6:121448187-121448187
7 GJA1 NM_000165.5(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 6:121770243-121770243 6:121449097-121449097
8 GJA1 NM_000165.5(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 6:121756834-121756834 6:121435688-121435688
9 GJA1 NM_000165.5(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 6:121769305-121769305 6:121448159-121448159
10 GJA1 NM_000165.5(GJA1): c.*773del deletion Uncertain significance rs397698276 6:121769915-121769915 6:121448769-121448769
11 GJA1 NM_000165.5(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 6:121770185-121770185 6:121449039-121449039
12 GJA1 NM_000165.5(GJA1): c.*694T> C single nucleotide variant Uncertain significance rs886061016 6:121769836-121769836 6:121448690-121448690
13 GJA1 NM_000165.5(GJA1): c.*916_*918del deletion Uncertain significance rs886061018 6:121770058-121770060 6:121448912-121448914
14 GJA1 NM_000165.5(GJA1): c.1015G> A (p.Asp339Asn) single nucleotide variant Uncertain significance rs772121642 6:121769008-121769008 6:121447862-121447862
15 GJA1 NM_000165.5(GJA1): c.*529C> G single nucleotide variant Uncertain significance rs886061013 6:121769671-121769671 6:121448525-121448525
16 GJA1 NM_000165.5(GJA1): c.*538G> A single nucleotide variant Uncertain significance rs886061014 6:121769680-121769680 6:121448534-121448534
17 GJA1 NM_000165.5(GJA1): c.*635C> T single nucleotide variant Uncertain significance rs886061015 6:121769777-121769777 6:121448631-121448631
18 GJA1 NM_000165.5(GJA1): c.*1020_*1021del deletion Uncertain significance rs375943953 6:121770162-121770163 6:121449016-121449017
19 GJA1 NM_000165.5(GJA1): c.270C> G (p.Leu90=) single nucleotide variant Uncertain significance rs886061009 6:121768263-121768263 6:121447117-121447117
20 GJA1 NM_000165.5(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 6:121756807-121756807 6:121435661-121435661
21 GJA1 NM_000165.5(GJA1): c.837G> A (p.Ser279=) single nucleotide variant Likely benign rs67407537 6:121768830-121768830 6:121447684-121447684
22 GJA1 NM_000165.5(GJA1): c.*214G> A single nucleotide variant Likely benign rs549064986 6:121769356-121769356 6:121448210-121448210
23 GJA1 NM_000165.5(GJA1): c.456G> A (p.Leu152=) single nucleotide variant Likely benign rs72548741 6:121768449-121768449 6:121447303-121447303
24 GJA1 NM_000165.5(GJA1): c.1128G> A (p.Arg376=) single nucleotide variant Likely benign rs145215218 6:121769121-121769121 6:121447975-121447975
25 GJA1 NM_000165.5(GJA1): c.*119T> C single nucleotide variant Likely benign rs72548742 6:121769261-121769261 6:121448115-121448115
26 GJA1 NM_000165.5(GJA1): c.*1018_*1021del deletion Likely benign rs375943953 6:121770160-121770163 6:121449014-121449017
27 GJA1 NM_000165.5(GJA1): c.*772_*773dup duplication Likely benign rs397698276 6:121769914-121769915 6:121448768-121448769
28 GJA1 NM_000165.5(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 6:121767966-121767966 6:121446820-121446820
29 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 6:121756860-121756860 6:121435714-121435714
30 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 6:121756928-121756928 6:121435782-121435782
31 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 6:121769385-121769385 6:121448239-121448239
32 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 6:121769427-121769427 6:121448281-121448281
33 GJA1 NM_000165.5(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 6:121770219-121770219 6:121449073-121449073
34 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign rs147674680 3:71019907-71019907 3:70970756-70970756
35 GJA1 NM_000165.5(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 6:121768710-121768710 6:121447564-121447564
36 HAND1 NM_004821.3(HAND1): c.247G> T (p.Gly83Trp) single nucleotide variant Benign/Likely benign rs201302313 5:153857322-153857322 5:154477762-154477762
37 GJA1 NM_000165.5(GJA1): c.*773dup duplication Benign rs397698276 6:121769915-121769915 6:121448769-121448769
38 GJA1 NM_000165.5(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 6:121770110-121770110 6:121448964-121448964
39 GJA1 NM_000165.5(GJA1): c.*1322A> T single nucleotide variant Benign rs12212865 6:121770464-121770464 6:121449318-121449318
40 GJA1 NM_000165.5(GJA1): c.*173G> A single nucleotide variant Benign rs72548744 6:121769315-121769315 6:121448169-121448169
41 GJA1 NM_000165.5(GJA1): c.*1733C> T single nucleotide variant Benign rs78394273 6:121770875-121770875 6:121449729-121449729
42 GJA1 NM_000165.5(GJA1): c.*3dup duplication Benign rs397824185 6:121769145-121769145 6:121447999-121447999

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 HAND1 GJA1
2 in utero embryonic development GO:0001701 9.26 HAND1 GJA1
3 response to lipopolysaccharide GO:0032496 9.16 GJA1 FOXP1
4 heart looping GO:0001947 8.96 HAND1 GJA1
5 embryonic heart tube development GO:0035050 8.62 HAND1 GJA1

Sources for Hypoplastic Left Heart Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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