Human Phenotype Ontology

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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:
Abnormal heart morphology (HP:0001627)

Parent Node:
Abnormal pericardium morphology (HP:0001697)

..Starting node
..Pericardial effusion (HP:0001698)

Term ID:

1698

Name:

Pericardial effusion

Synonym:

Fluid around heart; Pericardial effusions

Definition:

Accumulation of fluid within the pericardium.

Comments:

Reference:

HP:0001698

Genes and Diseases:

Child Nodes:

........

Hemopericardium (HP:0011851)

........

Chylopericardium (HP:0011852)

........

Serous pericardial effusion (HP:0011853)

Sister Nodes:

Congenital defect of the pericardium (HP:0011628)

Pericardial constriction (HP:0005132)

Pericardial lymphangiectasia (HP:0005183)

Pericardial mesothelioma (HP:0100004)

Pericarditis (HP:0001701)

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:0001698	HP:0001698	Pericardial effusion	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0001698	HP:0001698	Pericardial effusion	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001698	HP:0001698	Pericardial effusion	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0001698	HP:0001698	Pericardial effusion	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0001698	HP:0001698	Pericardial effusion	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0001698	HP:0001698	Pericardial effusion	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent	93
HP:0001698	HP:0001698	Pericardial effusion	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0001698	HP:0001698	Pericardial effusion	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	HP:0040284 - Very rare
HP:0001698	HP:0001698	Pericardial effusion	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0001698	HP:0001698	Pericardial effusion	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0001698	HP:0001698	Pericardial effusion	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0001698	HP:0001698	Pericardial effusion	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0001698	HP:0001698	Pericardial effusion	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001698	HP:0001698	Pericardial effusion	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0001698	HP:0001698	Pericardial effusion	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001698	HP:0001698	Pericardial effusion	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040284 - Very rare	40
HP:0001698	HP:0001698	Pericardial effusion	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0001698	HP:0001698	Pericardial effusion	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.	3
HP:0001698	HP:0001698	Pericardial effusion	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0001698	HP:0001698	Pericardial effusion	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0001698	HP:0001698	Pericardial effusion	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0001698	HP:0001698	Pericardial effusion	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0001698	HP:0001698	Pericardial effusion	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0001698	HP:0001698	Pericardial effusion	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001698	HP:0001698	Pericardial effusion	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001698	HP:0001698	Pericardial effusion	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0001698	HP:0001698	Pericardial effusion	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A	.	645
HP:0001698	HP:0001698	Pericardial effusion	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040283 - Occasional	645
HP:0001698	HP:0001698	Pericardial effusion	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001698	HP:0001698	Pericardial effusion	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0001698	HP:0001698	Pericardial effusion	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001698	HP:0001698	Pericardial effusion	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0001698	HP:0001698	Pericardial effusion	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0001698	HP:0001698	Pericardial effusion	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0001698	HP:0001698	Pericardial effusion	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001698	HP:0001698	Pericardial effusion	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0001698	HP:0001698	Pericardial effusion	0	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema	.	1
HP:0001698	HP:0001698	Pericardial effusion	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001698	HP:0001698	Pericardial effusion	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0001698	HP:0001698	Pericardial effusion	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001698	HP:0001698	Pericardial effusion	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0001698	HP:0001698	Pericardial effusion	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001698	HP:0001698	Pericardial effusion	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0001698	HP:0001698	Pericardial effusion	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0001698	HP:0001698	Pericardial effusion	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0001698	HP:0001698	Pericardial effusion	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0001698	HP:0001698	Pericardial effusion	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001698	HP:0011853	Serous pericardial effusion	1	CL E G H
HP:0001698	HP:0011851	Hemopericardium	1	CL E G H
HP:0001698	HP:0011852	Chylopericardium	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0001698	HP:0011852	Chylopericardium	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738

Genes (42) :ABCC6 ABCC9 ACADVL ADAMTS3 AEBP1 ALG9 BLTP1 CALCRL CCBE1 CDH23 CLCNKB DNASE1L3 DPH5 EIF2AK4 ENPP1 EPHB4 FAT4 GBA1 HLA-DRB1 IFIH1 IRAK1 ITK LETM1 LMNA LYST MAF MCM10 MYBPC3 MYRF PLVAP PMM2 PTPN14 RNU7-1 SCARB2 SLC12A3 SMAD4 SPP1 STAT4 TCTN2 TSC1 TSC2 UQCRFS1

Diseases (39) :ORPHA:51608 OMIM:239850 ORPHA:26793 ORPHA:2136 ORPHA:536532 ORPHA:79328 OMIM:608776 OMIM:617822 OMIM:618773 OMIM:235510 ORPHA:91347 ORPHA:358 ORPHA:36412 OMIM:620070 ORPHA:199241 OMIM:617300 ORPHA:77259 ORPHA:77261 OMIM:181000 OMIM:615846 ORPHA:93552 OMIM:613011 OMIM:620089 OMIM:115200 ORPHA:300751 ORPHA:167 ORPHA:1272 OMIM:619313 OMIM:115197 OMIM:618280 OMIM:618183 OMIM:212065 ORPHA:79318 OMIM:613611 OMIM:619487 OMIM:139210 OMIM:613885 ORPHA:538 OMIM:618775

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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