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 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
UMLS 73 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). Affiliated tissues include heart, brain and testes, 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

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 40)
# Related Disease Score Top Affiliating Genes
1 hypoplastic left heart syndrome 32.4 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 hypoplastic left heart syndrome 2 11.1
7 hemophagocytic lymphohistiocytosis, familial, 1 11.0
8 macrophage activation syndrome 11.0
9 lymphoma 10.1
10 lymphoma, hodgkin, classic 10.0
11 hematopoietic stem cell transplantation 10.0
12 griscelli syndrome 10.0
13 atrioventricular septal defect 9.9 FOXP1 GJA1
14 factor x deficiency 9.9
15 galactorrhea 9.9
16 neuroblastoma 9.9
17 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.9
18 malaria 9.9
19 myelodysplastic syndrome 9.9
20 infantile liver failure syndrome 1 9.9
21 acute liver failure 9.9
22 anaplastic large cell lymphoma 9.9
23 liver disease 9.9
24 colitis 9.9
25 crohn's colitis 9.9
26 arachnoiditis 9.9
27 plasmodium vivax malaria 9.9
28 amenorrhea 9.9
29 histoplasmosis 9.9
30 hypogonadism 9.9
31 histiocytosis 9.9
32 pneumonia 9.9
33 acquired immunodeficiency syndrome 9.9
34 luteoma 9.9
35 herpes simplex 9.9
36 leishmaniasis 9.9
37 visceral leishmaniasis 9.9
38 leydig cell hypoplasia 9.9
39 tetralogy of fallot 9.7 GJA1 HAND1
40 heart disease 9.6 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

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

Search Clinical Trials , 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, Brain, Testes, Lung, Liver, Kidney, Neutrophil

Publications for Hypoplastic Left Heart Syndrome 1

Articles related to Hypoplastic Left Heart Syndrome 1:

(show top 50) (show all 1029)
# 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
Differences in midterm outcomes in infants with hypoplastic left heart syndrome diagnosed with necrotizing enterocolitis: NPCQIC database analysis. ( 29524308 )
2018
33
Cerebrovascular response to maternal hyperoxygenation in fetuses with hypoplastic left heart syndrome depends on gestational age and baseline cerebrovascular resistance. ( 28976608 )
2018
34
A potentially curative fetal intervention for hypoplastic left heart syndrome. ( 29317056 )
2018
35
Outcomes of Patients With Hypoplastic Left Heart Syndrome Reaching Adulthood After Fontan Palliation: Multicenter Study. ( 29483175 )
2018
36
Cerebral Blood Flow Following Hybrid Stage I Palliation in Infants with Hypoplastic Left Heart Syndrome. ( 29497771 )
2018
37
Impact of Hybrid Stage 1 Palliation for Hypoplastic Left Heart Syndrome: Histopathological Findings. ( 29523921 )
2018
38
Prognostic Value of Serial Echocardiography in Hypoplastic Left Heart Syndrome. ( 30012823 )
2018
39
Prognostic Value of Serial Echocardiography in Hypoplastic Left Heart Syndrome: Smaller Hearts, Better Results. ( 30012828 )
2018
40
Perception scores of siblings and parents of children with hypoplastic left heart syndrome. ( 30019479 )
2018
41
Angiotensin converting enzyme inhibitors and interstage failure in infants with hypoplastic left heart syndrome. ( 30019493 )
2018
42
A Novel Aortic Reconstruction for Anomalous Left Coronary Arising From the Right Pulmonary Artery in Hypoplastic Left Heart Syndrome: Successful Surgical Treatment. ( 30031946 )
2018
43
Variation in care for infants undergoing the Stage II palliation for hypoplastic left heart syndrome. ( 30039776 )
2018
44
Two- and Four-dimensional Ultrasonography of an Interatrial Stent in a Fetus With Hypoplastic Left Heart Syndrome. ( 30058144 )
2018
45
Transition experiences between hospital- and home-care for parents of children with hypoplastic left heart syndrome. ( 30098124 )
2018
46
Ultrasonography and autopsy correlation of fetal hypoplastic left heart syndrome. ( 30113085 )
2018
47
Perioperative Cerebral Oxygenation Metabolism in Neonates with Hypoplastic Left Heart Syndrome or Transposition of the Great Arteries. ( 30167749 )
2018
48
Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome. ( 30172441 )
2018
49
Immediate Postnatal Ventricular Performance Is Associated with Mortality in Hypoplastic Left Heart Syndrome. ( 30178190 )
2018
50
Neoaortic Root Incorporation of Anomalous Left Coronary Artery From Pulmonary Artery in Hypoplastic Left Heart Syndrome: An Alternative Technique. ( 30205146 )
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_000165.4(GJA1): c.1085G> A (p.Arg362Gln) single nucleotide variant Uncertain significance rs2227885 GRCh37 Chromosome 6, 121769078: 121769078
2 GJA1 NM_000165.4(GJA1): c.1085G> A (p.Arg362Gln) single nucleotide variant Uncertain significance rs2227885 GRCh38 Chromosome 6, 121447932: 121447932
3 GJA1 NM_000165.4(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh37 Chromosome 6, 121769120: 121769120
4 GJA1 NM_000165.4(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_000165.4(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh37 Chromosome 6, 121768710: 121768710
8 GJA1 NM_000165.4(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_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
16 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh38 Chromosome 6, 121447999: 121447999
17 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
18 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
19 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
20 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
21 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
22 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
23 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
24 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
25 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
26 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
27 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
28 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
29 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
30 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
31 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
32 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
33 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
34 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
35 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
36 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
37 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
38 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
39 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
40 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915
41 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh38 Chromosome 6, 121448769: 121448769
42 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh37 Chromosome 6, 121769915: 121769915
43 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
44 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
45 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh38 Chromosome 6, 121448964: 121448964
46 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh37 Chromosome 6, 121770110: 121770110
47 GJA1 NM_000165.4(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh37 Chromosome 6, 121770185: 121770185
48 GJA1 NM_000165.4(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh38 Chromosome 6, 121449039: 121449039
49 GJA1 NM_000165.4(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh37 Chromosome 6, 121756807: 121756807
50 GJA1 NM_000165.4(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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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