MCID: HYP517
MIFTS: 17

Hypoplastic Left Heart Syndrome 2

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome 2

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome 2:

Name: Hypoplastic Left Heart Syndrome 2 53 71 28 13 69
Hlhs2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
hypoplastic left heart syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614435
MedGen 39 C3280795
MeSH 41 D018636
UMLS 69 C3280795

Summaries for Hypoplastic Left Heart Syndrome 2

OMIM : 53 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)

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

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
CardiovascularHeart:
hypoplastic left heart
ventricular septal defect
aortic valve atresia
mitral valve atresia


Clinical features from OMIM:

614435

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

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 28 NKX2-5

Anatomical Context for Hypoplastic Left Heart Syndrome 2

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

38
Heart

Publications for Hypoplastic Left Heart Syndrome 2

Variations for Hypoplastic Left Heart Syndrome 2

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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