Term ID:
11636
Name:
Abnormal coronary artery origin
Synonym:
Definition:
Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.
Comments:
Reference:
HP:0011636
Genes and Diseases: Child Nodes: ........Anomalous origin of coronary artery from the pulmonary artery (HP:0011637) ................... HP:0011638 Anomalous origin of left coronary artery from the pulmonary artery ................... HP:0011639 Anomalous origin of right coronary artery from the pulmonary artery ................... HP:0031638 Anomalous origin of the left anterior descending artery from the pulmonary artery ........Single coronary artery origin (HP:0011640) ........Anomalous coronary artery arising from the opposite sinus (HP:0025503) ................... HP:0025506 Coronary artery sandwich anomaly ........Anomalous origin of the circumflex artery from the right sinus of Valsalva (HP:0025505) ................... HP:0031537 Anomalous origin of the left circumflex artery from the right coronary artery ........Separate origin of the left anterior descending and left circumflex artery (HP:0031536) ........Coronary ostial atresia (HP:0031626) ................... HP:0031637 Right coronary artery ostial atresia ........Absent left main coronary artery (HP:0031639) Sister Nodes: ..Abnormal coronary artery course (HP:0011686) ..Coronary artery aneurysm (HP:0030882) ..Coronary artery atherosclerosis (HP:0001677) ..Coronary artery calcification (HP:0001717) ..Coronary artery dissection (HP:0006702) ..Coronary artery stenosis (HP:0005145) ..Granulomatous coronary arteritis (HP:0006679) ..Intimal thickening in the coronary arteries (HP:0005292) 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:0011636 HP:0011636 Abnormal coronary artery origin 0 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0011636 HP:0011636 Abnormal coronary artery origin 0 LZTR1 CL E G H 8216 6742 OMIM:605275 Noonan syndrome 2 43 HP:0011636 HP:0011636 Abnormal coronary artery origin 0 NADSYN1 CL E G H 55191 29832 OMIM:618845 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 HP:0011636 HP:0011636 Abnormal coronary artery origin 0 NKX2-6 CL E G H 137814 32940 ORPHA:3384 Truncus arteriosus 3 HP:0011636 HP:0011636 Abnormal coronary artery origin 0 PLXND1 CL E G H 23129 9107 ORPHA:3384 Truncus arteriosus HP:0011636 HP:0031639 Absent left main coronary artery 1 CL E G H HP:0011636 HP:0025505 Anomalous origin of the circumflex artery from the right sinus of Valsalva 1 CL E G H HP:0011636 HP:0025503 Anomalous coronary artery arising from the opposite sinus 1 CL E G H HP:0011636 HP:0031626 Coronary ostial atresia 1 CL E G H HP:0011636 HP:0031536 Separate origin of the left anterior descending and left circumflex artery 1 CL E G H HP:0011636 HP:0011640 Single coronary artery origin 1 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0011636 HP:0011637 Anomalous origin of coronary artery from the pulmonary artery 1 NADSYN1 CL E G H 55191 29832 OMIM:618845 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 HP:0011636 HP:0011640 Single coronary artery origin 1 NKX2-6 CL E G H 137814 32940 ORPHA:3384 Truncus arteriosus HP:0040283 - Occasional 3 HP:0011636 HP:0011640 Single coronary artery origin 1 PLXND1 CL E G H 23129 9107 ORPHA:3384 Truncus arteriosus HP:0040283 - Occasional HP:0011636 HP:0025506 Coronary artery sandwich anomaly 2 CL E G H HP:0011636 HP:0031638 Anomalous origin of the left anterior descending artery from the pulmonary artery 2 CL E G H HP:0011636 HP:0031637 Right coronary artery ostial atresia 2 CL E G H HP:0011636 HP:0011639 Anomalous origin of right coronary artery from the pulmonary artery 2 CL E G H HP:0011636 HP:0031537 Anomalous origin of the left circumflex artery from the right coronary artery 2 CL E G H HP:0011636 HP:0011638 Anomalous origin of left coronary artery from the pulmonary artery 2 NADSYN1 CL E G H 55191 29832 OMIM:618845 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
Genes (5) :CIROP LZTR1 NADSYN1 NKX2-6 PLXND1 Diseases (4) :OMIM:619702 OMIM:605275 OMIM:618845 ORPHA:3384
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.