Human Phenotype
Ontology
|
Grandparent Node: Heart block (HP:0012722) | Parent Node: Bundle branch block (HP:0011710) | ..Starting node ..Left bundle branch block (HP:0011713)
|
Term ID: |
11713 |
Name: |
Left bundle branch block |
Synonym: |
|
Definition: |
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. |
Comments: |
|
Reference: |
HP:0011713 |
Genes and Diseases: | | Child Nodes: | ........Left posterior fascicular block (HP:0005172) | ........Left anterior fascicular block (HP:0011711) | Sister Nodes: | ..Right bundle branch block (HP:0011712)
| ..Trifascicular block (HP:0011715)
| 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:0011713 | HP:0011713 | Left bundle branch block | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618920 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14 | | | | | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | CTNNA3 CL E G H | 29119 | 2511 | OMIM:615616 | Arrhythmogenic right ventricular dysplasia, familial, 13 | | | | 98 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:612877 | CARDIOMYOPATHY, DILATED, 1BB; CMD1BB | | | | 358 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:601493 | Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction | | | | 286 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | | | | 131 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | MYOZ2 CL E G H | 51778 | 1330 | OMIM:613838 | Cardiomyopathy, familial hypertrophic, 16 | HP:0040283 - Occasional | | | 81 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | . | | | 235 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613694 | Cardiomyopathy, dilated, 1U | | | | 241 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:613697 | Cardiomyopathy, dilated, 1V | | | | 59 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:601154 | Cardiomyopathy, dilated, 1E | . | | | 1134 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:113900 | Progressive familial heart block, type IA | | | | 1134 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | | | | 73 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | | | | 1 | | | HP:0011713 | HP:0011713 | Left bundle branch block | 0 | TRPM4 CL E G H | 54795 | 17993 | OMIM:604559 | Progressive familial heart block, type IB | | | | 124 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | | HP:0011713 | HP:0005172 | Left posterior fascicular block | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:113900 | Progressive familial heart block, type IA | . | | | 1134 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:113900 | Progressive familial heart block, type IA | . | | | 1134 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | HP:0040283 - Occasional | | | 73 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | | | | 1 | | | HP:0011713 | HP:0011711 | Left anterior fascicular block | 1 | TRPM4 CL E G H | 54795 | 17993 | OMIM:604559 | Progressive familial heart block, type IB | . | | | 124 | | |
Genes (18) :ACTC1 CDH2 CTNNA3 DSG2 FLNC LDB3 LMNA MYBPC3 MYH7 MYL2 MYOZ2 PRKAG2 PSEN1 PSEN2 SCN5A TNNC1 TNNI3K TRPM4
Diseases (19) :OMIM:612098 OMIM:618920 OMIM:615616 OMIM:612877 OMIM:617047 OMIM:601493 OMIM:181350 OMIM:115197 ORPHA:437572 OMIM:608758 OMIM:613838 OMIM:600858 OMIM:613694 OMIM:613697 OMIM:601154 OMIM:113900 OMIM:613243 OMIM:616117 OMIM:604559 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
|
|
|