HLHS2
MCID: HYP517
MIFTS: 22

Hypoplastic Left Heart Syndrome 2 (HLHS2)

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome 2

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome 2:

Name: Hypoplastic Left Heart Syndrome 2 57 72 29 13 6 70
Hlhs2 57 72
Heart, Hypoplastic Left, Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hypoplastic left heart syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614435
OMIM Phenotypic Series 57 PS241550
MeSH 44 D018636
MedGen 41 C3280795
UMLS 70 C3280795

Summaries for Hypoplastic Left Heart Syndrome 2

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). For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550). (614435) (Updated 05-Apr-2021)

MalaCards based summary : Hypoplastic Left Heart Syndrome 2, also known as hlhs2, is related to ventricular septal defect 3. An important gene associated with Hypoplastic Left Heart Syndrome 2 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include heart and thyroid, and related phenotypes are hypoplastic left heart and ventricular septal defect

UniProtKB/Swiss-Prot : 72 Hypoplastic left heart syndrome 2: 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 2

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

# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 3 11.0

Symptoms & Phenotypes for Hypoplastic Left Heart Syndrome 2

Human phenotypes related to Hypoplastic Left Heart Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 hypoplastic left heart 31 HP:0004383
2 ventricular septal defect 31 HP:0001629
3 mitral atresia 31 HP:0011560
4 aortic valve atresia 31 HP:0010883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
hypoplastic left heart
ventricular septal defect
aortic valve atresia
mitral valve atresia

Clinical features from OMIM®:

614435 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome 2

Search Clinical Trials , NIH Clinical Center for Hypoplastic Left Heart Syndrome 2

Genetic Tests for Hypoplastic Left Heart Syndrome 2

Genetic tests related to Hypoplastic Left Heart Syndrome 2:

# Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome 2 29 NKX2-5

Anatomical Context for Hypoplastic Left Heart Syndrome 2

MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome 2:

40
Heart, Thyroid

Publications for Hypoplastic Left Heart Syndrome 2

Articles related to Hypoplastic Left Heart Syndrome 2:

(show all 17)
# Title Authors PMID Year
1
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 6 57
20456451 2010
2
NKX2.5 mutations in patients with congenital heart disease. 57 6
14607454 2003
3
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
4
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 6
19948535 2010
5
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 6
16418214 2006
6
NKX2.5 mutations in patients with tetralogy of fallot. 6
11714651 2001
7
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
8
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 6
10587520 1999
9
Congenital aortic atresia and hypoplasia of the aortic orifice; case reports on two members of a family. 57
13050604 1953
10
Monochorionic twins discordant for congenital heart disease: a referral center's experience and possible pathophysiologic mechanisms. 61
21744365 2011
11
Some aspects of fetal echocardiogram: 12 years of experience. 61
12866767 2003
12
[Neurologic outcome in infants surgically treated for congenital cardiopathy: preliminary data]. 61
11424797 2000
13
Three-dimensional echocardiographic measurement of right ventricular volume in children with congenital heart disease validated by magnetic resonance imaging. 61
9719088 1998
14
Determinants of survival in pediatric continuous hemofiltration. 61
8589315 1995
15
Application of fresh and cryopreserved homografts harvested from transplant patients for correction of complex congenital heart disease. 61
8353331 1993
16
Orthotopic heart transplantation for congenital heart disease. Technical considerations. 61
8442981 1993
17
Postmortem angiocardiography in newborn infants with congenital malformation of the heart and great vessels. 61
967577 1976

Variations for Hypoplastic Left Heart Syndrome 2

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) SNV Pathogenic 9008 rs28936670 GRCh37: 5:172662014-172662014
GRCh38: 5:173235011-173235011

Expression for Hypoplastic Left Heart Syndrome 2

Search GEO for disease gene expression data for Hypoplastic Left Heart Syndrome 2.

Pathways for Hypoplastic Left Heart Syndrome 2

GO Terms for Hypoplastic Left Heart Syndrome 2

Sources for Hypoplastic Left Heart Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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