Term ID:
12666
Name:
Severely reduced left ventricular ejection fraction
Synonym:
Severely reduced ejection fraction
Definition:
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.
Comments:
Reference:
HP:0012666
Genes and Diseases: Child Nodes: Sister Nodes: ..Mildly reduced left ventricular ejection fraction (HP:0012663) ..Moderately reduced left ventricular ejection fraction (HP:0012665) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0012666 HP:0012666 Severely reduced left ventricular ejection fraction 0 BAG5 CL E G H 9529 941 OMIM:619747 CARDIOMYOPATHY, DILATED, 2F; CMD2F HP:0012666 HP:0012666 Severely reduced left ventricular ejection fraction 0 DSG2 CL E G H 1829 3049 OMIM:612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB 358 HP:0012666 HP:0012666 Severely reduced left ventricular ejection fraction 0 GTPBP3 CL E G H 84705 14880 ORPHA:444013 Combined oxidative phosphorylation defect type 23 HP:0040283 - Occasional 30 HP:0012666 HP:0012666 Severely reduced left ventricular ejection fraction 0 LMOD2 CL E G H 442721 6648 OMIM:619897 HP:0012666 HP:0012666 Severely reduced left ventricular ejection fraction 0 MYH6 CL E G H 4624 7576 OMIM:613251 Cardiomyopathy, familial hypertrophic, 14 452 HP:0012666 HP:0012666 Severely reduced left ventricular ejection fraction 0 PSEN1 CL E G H 5663 9508 OMIM:613694 Cardiomyopathy, dilated, 1U 241 HP:0012666 HP:0012666 Severely reduced left ventricular ejection fraction 0 TNNI3 CL E G H 7137 11947 OMIM:613286 Cardiomyopathy, dilated, 1ff 180
Genes (7) :BAG5 DSG2 GTPBP3 LMOD2 MYH6 PSEN1 TNNI3 Diseases (7) :OMIM:619747 OMIM:612877 ORPHA:444013 OMIM:619897 OMIM:613251 OMIM:613694 OMIM:613286
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.