Hypoplastic left heart syndrome 1

General Information (adopted from Orphanet):

Synonyms, Signs: HLHS
HLHS1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 241550
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

Symptom Information: Sort by abundance 

1
(HPO:0001650) Aortic valve stenosis 11470490 IBIS 49 / 7739
2
(HPO:0004383) Hypoplastic left heart 11470490 IBIS 29 / 7739
3
(HPO:0001706) Endocardial fibroelastosis 11470490 IBIS 20 / 7739
4
(HPO:0001667) Right ventricular hypertrophy 11470490 IBIS 23 / 7739
5
(HPO:0001653) Mitral regurgitation 11470490 IBIS 64 / 7739
6
(HPO:0011560) Mitral atresia 11470490 IBIS 3 / 7739
7
(HPO:0010883) Aortic valve atresia 11470490 IBIS 2 / 7739
8
(HPO:0001961) Hypoplastic heart 11470490 IBIS 9 / 7739
9
(MedDRA:10049211) Mitral valve hypoplasia 11470490 IBIS 1 / 7739
10
(OMIM) Left ventricular dilation 11470490 IBIS 13 / 7739

Associated genes:

GJA1;

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 ...
Clinical Description OMIM Brekke (1953) described 2 brothers, born 2 years apart, who died in the neonatal period. On autopsy, the boys had atresia or hypoplasia of the aortic orifice and hypoplasia of the left ventricle and ascending aorta, patency of ...
Molecular genetics OMIM In 8 pediatric heart transplant recipients with hypoplastic left heart syndrome, Dasgupta et al. (2001) identified 4 substitutions in the GJA1 gene: 2 missense mutations and 2 silent polymorphisms (see 121014.0011).