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	ebstein anomaly

Disease ID	374
Disease	ebstein anomaly
Definition	A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle.
Synonym	anomalies ebstein's anomaly ebstein tricuspid valve anomaly, ebstein anomaly, ebstein's ebstein anomaly [disease/finding] ebstein anomaly of tricuspid valve ebstein malformation ebstein's anomaly ebstein's anomaly (disorder) ebstein's anomaly (disorder) [ambiguous] ebstein's anomaly of the tricuspid valve ebstein's anomaly of tricuspid valve ebstein's anomaly of tricuspid valve (disorder) ebstein's malformation ebstein's malformation of tricuspid valve ebsteins anomaly ebsteins malformation malformation, ebstein's tricuspid valve, ebstein anomaly
Orphanet	ORPHANET:1880
OMIM	OMIM:224700
DOID	DOID:14289
ICD10	ICD10CM:Q22.5
UMLS	C0013481
MeSH	D004437
SNOMED-CT	SNOMEDCT_US_2016_09_01:204357006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:24) C0040961 \| tricuspid regurgitation \| 5 C0018801 \| heart failure \| 4 C1960469 \| left ventricular noncompaction \| 3 C0043202 \| wolff-parkinson-white syndrome \| 2 C0455988 \| nonimmune hydrops fetalis \| 1 C0018818 \| ventricular septal defect \| 1 C0264766 \| rheumatic mitral stenosis \| 1 C0040053 \| thrombosis \| 1 C0016522 \| patent foramen ovale \| 1 C0040961 \| tricuspid insufficiency \| 1 C0013080 \| trisomy 21 \| 1 C0152101 \| hypoplastic left heart \| 1 C0553980 \| endomyocardial fibrosis \| 1 C0002888 \| megaloblastic anemia \| 1 C0878544 \| cardiomyopathy \| 1 C0432443 \| 18q deletion syndrome \| 1 C0002871 \| anemia \| 1 C1956257 \| pulmonary stenosis \| 1 C0034088 \| pulmonary regurgitation \| 1 C0040963 \| tricuspid stenosis \| 1 C0026269 \| mitral stenosis \| 1 C0020305 \| hydrops fetalis \| 1 C0040961 \| tricuspid valve regurgitation \| 1 C0003857 \| arteriovenous malformation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4625 \| MYH7 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 1201 \| CLN3 \| 1.479 \| DISEASES 78987 \| CRELD1 \| 5.054 \| DISEASES 2200 \| FBN1 \| 1.563 \| DISEASES 389549 \| FEZF1 \| 2.814 \| DISEASES 342184 \| FMN1 \| 2.485 \| DISEASES 2626 \| GATA4 \| 3.536 \| DISEASES 9464 \| HAND2 \| 1.899 \| DISEASES 23462 \| HEY1 \| 2.201 \| DISEASES 23493 \| HEY2 \| 2.436 \| DISEASES 8091 \| HMGA2 \| 1.259 \| DISEASES 3347 \| HTN3 \| 2.27 \| DISEASES 9851 \| KIAA0753 \| 2.751 \| DISEASES 7044 \| LEFTY2 \| 2.997 \| DISEASES 3987 \| LIMS1 \| 4.594 \| DISEASES 84894 \| LINGO1 \| 2.588 \| DISEASES 4509 \| MT-ATP8 \| 2.866 \| DISEASES 4535 \| MT-ND1 \| 2.332 \| DISEASES 4624 \| MYH6 \| 1.952 \| DISEASES 4625 \| MYH7 \| 4.775 \| DISEASES 10529 \| NEBL \| 3.461 \| DISEASES 1482 \| NKX2-5 \| 4.264 \| DISEASES 7827 \| NPHS2 \| 1.539 \| DISEASES 4879 \| NPPB \| 2.634 \| DISEASES 5887 \| RAD23B \| 2.519 \| DISEASES 55285 \| RBM41 \| 4.768 \| DISEASES 6015 \| RING1 \| 2.693 \| DISEASES 6195 \| RPS6KA1 \| 1.847 \| DISEASES 6196 \| RPS6KA2 \| 2.332 \| DISEASES 6197 \| RPS6KA3 \| 2.018 \| DISEASES 6331 \| SCN5A \| 1.253 \| DISEASES 5345 \| SERPINF2 \| 1.36 \| DISEASES 653509 \| SFTPA1 \| 2.703 \| DISEASES 729238 \| SFTPA2 \| 2.497 \| DISEASES 56897 \| WRNIP1 \| 3.075 \| DISEASES 23414 \| ZFPM2 \| 2.738 \| DISEASES
Locus	(Waiting for update.)

Disease ID	374
Disease	ebstein anomaly
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0001645 \| Sudden cardiac death HP:0004309 \| Pre-excitation syndrome HP:0011712 \| Right bundle-branch block HP:0005110 \| Atrial fibrillation HP:0001631 \| Atria septal defect HP:0010316 \| Ebstein's anomaly of the tricuspid valve
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:38) HP:0005180 \| Tricuspid insufficiency \| 6 HP:0001635 \| Congestive heart failure \| 4 HP:0011675 \| Arrhythmias \| 3 HP:0030682 \| Left ventricular noncompaction \| 3 HP:0001631 \| Atria septal defect \| 3 HP:0001716 \| Wolff-Parkinson-White syndrome \| 2 HP:0001629 \| Ventricular septal defects \| 2 HP:0001649 \| Tachycardia \| 2 HP:0001694 \| Right-to-left shunt \| 2 HP:0001708 \| Impaired right ventricular function \| 2 HP:0001645 \| Sudden cardiac death \| 2 HP:0001655 \| Patent foramen ovale \| 1 HP:0006685 \| Endocardial fibrosis \| 1 HP:0012418 \| Low blood oxygen level \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0001903 \| Anemia \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0001789 \| Hydrops fetalis \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0001790 \| Nonimmune hydrops fetalis \| 1 HP:0001685 \| Myocardial fibrosis \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0005115 \| arrhythmias, Supraventricular \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0010446 \| Tricuspid stenosis \| 1 HP:0004308 \| Ventricular arrhythmia \| 1 HP:0001642 \| Pulmonic stenosis \| 1 HP:0001889 \| Megaloblastic anemia \| 1 HP:0000969 \| Dropsy \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0006548 \| Pulmonary av malformation \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0004860 \| Thiamine-responsive megaloblastic anemia \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0012721 \| Venous malformations \| 1

Disease ID	374
Disease	ebstein anomaly
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011712	Right bundle branch block	MP:0010520	sinoatrial block	a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle
HP:0005110	Atrial fibrillation	MP:0008543	atrial fibrillation	asynchronous contraction or quivering of individual cardiac muscle fibers in the atria
HP:0001631	Atria septal defect	MP:0011667	double outlet right ventricle with atrioventricular septal defect	a form of DORV in which there is also a complete atrioventricular canal
HP:0001645	Sudden cardiac death	MP:0012557	decreased calcium uptake by cardiac muscle	decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease

Mapped by homologous gene(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001645	Sudden cardiac death	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005110	Atrial fibrillation	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0011712	Right bundle branch block	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001631	Atria septal defect	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	374
Disease	ebstein anomaly
Case	(Waiting for update.)

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