Hypoplastic left heart syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 2248
OMIM Id: 241550
614435
ICD-10: Q23.4
UMLs: C0152101
MeSH: D018636
MedDRA: 10021076
Snomed: 62067003

Prevalence, inheritance and age of onset:

Prevalence: 15.1
Inheritance: Autosomal recessive
Autosomal dominant
Multifactorial
10587520; 11470490 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Univentricular cardiopathy
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001634) Mitral valve prolapse Occasional [Orphanet] 17498282 IBIS 69 / 7739
2
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 26152503 IBIS 274 / 7739
3
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 26152503 IBIS 228 / 7739
4
 (HPO:0001961) Hypoplastic heart Very frequent [Orphanet] hallmark [HPO] 26152503 IBIS 9 / 7739
5
 (HPO:0001653) Mitral regurgitation Occasional [Orphanet] 26152503 IBIS 64 / 7739
6
 (HPO:0005113) Dilatation of the aortic arch Frequent [Orphanet] 17498282 IBIS 12 / 7739
7
 (HPO:0001671) Abnormality of the cardiac septa Occasional [Orphanet] occasional [HPO] 26152503 IBIS 55 / 7739
8
 (HPO:0004383) Hypoplastic left heart Very frequent [Orphanet] 26152503 IBIS 29 / 7739
9
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 26152503 IBIS 69 / 7739
10
 (HPO:0001679) Abnormality of the aorta Frequent [Orphanet] 26152503 IBIS 5 / 7739
11
 (HPO:0011611) Interrupted aortic arch Frequent [Orphanet] 17498282 IBIS 10 / 7739
12
 (HPO:0001680) Coarctation of aorta Frequent [Orphanet] 17498282 IBIS 57 / 7739

Associated genes:

GJA1; NKX2-5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: