Hypoplastic left heart syndrome 2

General Information (adopted from Orphanet):

Synonyms, Signs: HLHS2
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614435
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hypoplastic left heart syndrome
 -Rare developmental defect during embryogenesis

Comment:

Hypoplastic left heart syndrome 2 is caused by mutation in NKX2-5 (PMID:20456451).

Symptom Information: Sort by abundance 

1
 (HPO:0011611) Interrupted aortic arch 20456451 IBIS 10 / 7739
2
 (HPO:0004927) Pulmonary artery dilatation 13050604 IBIS 4 / 7739
3
 (HPO:0010883) Aortic valve atresia 20456451 IBIS 2 / 7739
4
 (HPO:0005133) Right ventricular dilatation 13050604 IBIS 14 / 7739
5
 (HPO:0001660) Truncus arteriosus Rare [IBIS] 1% (n=608) 20456451 IBIS 21 / 7739
6
 (HPO:0001679) Abnormality of the aorta 13050604 IBIS 5 / 7739
7
 (HPO:0001636) Tetralogy of Fallot Rare [IBIS] 4% (n=26) 20456451 IBIS 104 / 7739
8
 (HPO:0004383) Hypoplastic left heart Rare [IBIS] 0.8% (n=121) 20456451 IBIS 29 / 7739
9
 (HPO:0001653) Mitral regurgitation 13050604 IBIS 64 / 7739
10
 (HPO:0011560) Mitral atresia 20456451 IBIS 3 / 7739
11
 (HPO:0001643) Patent ductus arteriosus 13050604 IBIS 228 / 7739
12
 (HPO:0001655) Patent foramen ovale 13050604 IBIS 31 / 7739
13
 (HPO:0001629) Ventricular septal defect 20456451 IBIS 316 / 7739
14
 (HPO:0001961) Hypoplastic heart 14607454 IBIS 9 / 7739
15
 (HPO:0011028) Abnormality of blood circulation 13050604 IBIS 2 / 7739
16
 (MedDRA:10067282) Right atrial dilatation 13050604 IBIS 8 / 7739

Associated genes:

NKX2-5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Molecular genetics OMIM In 1 (1%) of 80 patients with hypoplastic left heart syndrome, McElhinney et al. (2003) identified heterozygosity for a missense mutation in the NKX2-5 gene (R25C; 600584.0004).

In 1 of 9 patients with hypoplastic left heart ...