Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Arrhythmia (HP:0011675)

Parent Node:
Supraventricular arrhythmia (HP:0005115)

..Starting node
..Premature atrial contractions (HP:0006699)

Term ID:

6699

Name:

Premature atrial contractions

Synonym:

Atrial ectopic beats; Atrial premature complex; Ectopic supraventricular rhythms; PACs; Premature supraventricular beats

Definition:

A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.

Comments:

Reference:

HP:0006699

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrial arrhythmia (HP:0001692)

Atrial standstill (HP:0025478)

Supraventricular tachycardia (HP:0004755)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006699	HP:0006699	Premature atrial contractions	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0006699	HP:0006699	Premature atrial contractions	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.	39
HP:0006699	HP:0006699	Premature atrial contractions	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0006699	HP:0006699	Premature atrial contractions	0	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0006699	HP:0006699	Premature atrial contractions	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0006699	HP:0006699	Premature atrial contractions	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0006699	HP:0006699	Premature atrial contractions	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128

Genes (7) :CITED2 GJA5 KCNA5 KCNE2 NAA10 SCN5A TTN

Diseases (7) :ORPHA:99105 OMIM:108770 OMIM:612240 OMIM:611493 OMIM:300855 OMIM:601154 OMIM:604145

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.