hypoplastic left heart syndrome 1
MONDO:0009433Mondo
Findings
No curated finding names hypoplastic left heart syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009433), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance · Non-Mendelian inheritance · Oligogenic inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aortic valve stenosisHPOHP:0001650
- 32 of 413 reported patients
- Coarctation of aortaHPOHP:0001680
- 32 of 413 reported patients
Where it sits
- A kind of
Other names
3 names
Resolves to: hypoplastic left heart syndrome 1
- Also called
- GJA1 hypoplastic left heart syndromehypoplastic left heart syndrome caused by mutation in GJA1hypoplastic left heart syndrome type 1