Human Phenotype Ontology

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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:
Atrial arrhythmia (HP:0001692)

Parent Node:
Atrial fibrillation (HP:0005110)

..Starting node
..Paroxysmal atrial fibrillation (HP:0004757)

Term ID:

4757

Name:

Paroxysmal atrial fibrillation

Synonym:

Atrial fibrillation, paroxysmal; Intermittent atrial fibrillation; Paroxysmal AF

Definition:

Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.

Comments:

Reference:

HP:0004757

Genes and Diseases:

Child Nodes:

Sister Nodes:

Permanent atrial fibrillation (HP:0004754)

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:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12	.	254
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12	.	104
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1		39
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9	.	193
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18	HP:0040283 - Occasional	2
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18		57
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13	.	126
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10	.	1134
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0004757	HP:0004757	Paroxysmal atrial fibrillation	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145

Genes (22) :ABCC9 CASQ2 CSRP3 GJA5 GNB2 HCN4 KCNA5 KCNE2 KCNH2 KCNJ2 KCNQ1 LRP12 MYL4 PLN PRKAG2 RYR2 SCN1B SCN2B SCN3B SCN5A TBX5 TRDN

Diseases (20) :OMIM:614050 OMIM:604772 OMIM:612124 OMIM:108770 OMIM:619464 OMIM:163800 OMIM:612240 OMIM:611493 OMIM:609620 OMIM:613980 OMIM:607554 OMIM:164310 OMIM:617280 OMIM:613874 OMIM:194200 OMIM:615377 OMIM:615378 OMIM:613120 OMIM:614022 ORPHA:392

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

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