MCID: HYP517
MIFTS: 18

Hypoplastic Left Heart Syndrome 2

Categories: Genetic diseases, Rare diseases, Cardiovascular 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 57 75 29 13 6 73
Hlhs2 57 75
Heart, Hypoplastic Left, Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypoplastic left heart syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614435
MedGen 42 C3280795
MeSH 44 D018636
UMLS 73 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)

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 related phenotypes are hypoplastic left heart and ventricular septal defect

UniProtKB/Swiss-Prot : 75 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:

57
Cardiovascular Heart:
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:

32
# Description HPO Frequency HPO Source Accession
1 hypoplastic left heart 32 HP:0004383
2 ventricular septal defect 32 HP:0001629
3 mitral atresia 32 HP:0011560
4 aortic valve atresia 32 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 29 NKX2-5

Anatomical Context for Hypoplastic Left Heart Syndrome 2

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

41
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
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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