MCID: EBS001
MIFTS: 43

Ebstein Anomaly malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ebstein Anomaly

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 36MeSH, 51Orphanet, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ebstein Anomaly:

Name: Ebstein Anomaly 10 45 12 36
Ebstein's Anomaly 10 45
Ebstein's Anomaly of Common Atrioventricular Valve 10
Ebstein's Anomaly of Right Atrioventricular Valve 10
 
Ebstein Anomaly of the Tricuspid Valve 51
Ebstein's Anomaly of Tricuspid Valve 10
Ebstein's Malformation 45
Ebstein Malformation 51

Characteristics:

Orphanet epidemiological data:

51
ebstein anomaly of the tricuspid valve:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-5/10000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-9/100000 (Poland),1-9/1000000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine),1-9/100000 (Norway); Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Disease Ontology10 DOID:14289
ICD1027 Q22.5
ICD9CM29 746.2
MeSH36 D004437
SNOMED-CT59 1796006
NCIt42 C84681
Orphanet51 1880
UMLS via Orphanet66 C0013481
ICD10 via Orphanet28 Q22.5
UMLS65 C0013481

Summaries for Ebstein Anomaly

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NIH Rare Diseases:45 Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. the abnormality causes the tricuspid valve to leak blood backwards into the right atrium. the  backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. symptoms range from mild to very severe. treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery. last updated: 4/30/2014

MalaCards based summary: Ebstein Anomaly, also known as ebstein's anomaly, is related to hepatitis and neuronitis, and has symptoms including respiratory distress/dyspnea/respiratory failure/lung volume reduction, tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly and tricuspid valve atresia/stenosis/narrowing. An important gene associated with Ebstein Anomaly is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta), and among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. Affiliated tissues include heart, lung and liver.

Disease Ontology:10 A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.

Related Diseases for Ebstein Anomaly

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Graphical network of the top 20 diseases related to Ebstein Anomaly:



Diseases related to ebstein anomaly

Symptoms for Ebstein Anomaly

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Symptoms:

 51 (show all 19)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • tricuspid valve atresia/stenosis/narrowing
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • autosomal recessive inheritance
  • asthenia/fatigue/weakness
  • prematurity
  • thoracic/chest pain
  • cardiac septal defect
  • patent ductus arteriosus
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • endocardium anomalies/fibroelastosis/endocarditis
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • heart/cardiac failure
  • arterial embolism/thrombosis
  • arterial pulse abolition
  • transient cerebral ischemia/stroke

Drugs & Therapeutics for Ebstein Anomaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
2Genes Causing Ebstein's AnomalyCompletedNCT00497705
3Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right HeartNot yet recruitingNCT01444222

Search NIH Clinical Center for Ebstein Anomaly


Cochrane evidence based reviews: ebstein anomaly

Genetic Tests for Ebstein Anomaly

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Anatomical Context for Ebstein Anomaly

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MalaCards organs/tissues related to Ebstein Anomaly:

33
Heart, Lung, Liver, Breast, T cells, Testes, Colon

Animal Models for Ebstein Anomaly or affiliated genes

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Publications for Ebstein Anomaly

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Articles related to Ebstein Anomaly:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Avian influenza in Australia: a summary of 5 years of wild bird surveillance. (26503532)
2015
2
Chondroid Syringoma of the Philtral Dimple. (26865793)
2015
3
Rheb activation disrupts spine synapse formation through accumulation of syntenin in tuberous sclerosis complex. (25880340)
2015
4
Renalase gene polymorphism in patients after renal allograft transplantation. (24923329)
2014
5
Concomitant canine distemper, infectious canine hepatitis, canine parvoviral enteritis, canine infectious tracheobronchitis, and toxoplasmosis in a puppy. (23293164)
2013
6
The role of connexin 43 and hemichannels correlated with the astrocytic death following ischemia/reperfusion insult. (23328809)
2013
7
A diagnosis not to be missed: nonclassic steroid 11beta-hydroxylase deficiency presenting with premature adrenarche and hirsutism. (23940125)
2013
8
Multifocal skeletal tuberculosis involving the lumbar spine and iliac bone, mimicking a malignant bone tumour: a case report. (25279059)
2012
9
Should axillary ultrasound be used in patients with a preoperative diagnosis of ductal carcinoma in situ? (22749764)
2012
10
Loss of E-cadherin in multidrug resistant breast cancer cell line MCF-7/Adr: possible implication in the enhanced invasive ability. (23047512)
2012
11
Diffuse nodular lymphoid hyperplasia of intestine in selective IgG 2 subclass deficiency, autoimmune thyroiditis, and autoimmune hemolytic anemia: case report and literature review. (23256128)
2012
12
Gastrointestinal stromal tumor arising in an ileal duplication: report of a case. (22307903)
2012
13
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
14
In vivo regulation of amyloid precursor protein neuronal splicing by microRNAs. (21062284)
2011
15
Viruses and autoantibodies in biliary atresia. (20875483)
2010
16
Lack of exonic sulfotransferase 4A1 mutations in controls and schizophrenia cases. (19125109)
2009
17
Peroxisome proliferator-activated receptor gamma regulates expression of the anti-lipolytic G-protein-coupled receptor 81 (GPR81/Gpr81). (19633298)
2009
18
Panhypopituitarism due to metastases to the hypothalamus and the pituitary resulting from primary breast cancer: a case report and review of the literature. (19933072)
2009
19
Subgemmal neurogenous plaque: clinical and microscopic evaluation of 7 cases. (19913727)
2009
20
Large deletions account for an increasing number of mutations in SGCE. (18098280)
2008
21
Elevated hepatocyte growth factor levels at the beginning of high-flux hemodialysis are due to heparin administration. (18925524)
2008
22
Inhibition of the myeloperoxidase chlorinating activity by non-steroidal anti-inflammatory drugs: flufenamic acid and its 5-chloro-derivative directly interact with a recombinant human myeloperoxidase to inhibit the synthesis of hypochlorous acid. (17610876)
2007
23
A new, unexpected action of olomoucine, a CDK inhibitor, on normal human cells: up-regulation of CLIMP-63, a cytoskeleton-linking membrane protein. (17975794)
2007
24
Effects of hepatocyte growth factor on phosphorylation of extracellular signal-regulated kinase and hippocampal cell death in rats with transient forebrain ischemia. (16516191)
2006
25
Fluorescence lifetime imaging microscopy (FLIM) detects stimulus-dependent phosphorylation of the low density lipoprotein receptor-related protein (LRP) in primary neurons. (16930548)
2006
26
Complementarity-determining region 3 analysis of T cell receptor beta chain variable region in peripheral blood mononuclear cells of patients with systemic lupus erythematosus]. (16939900)
2006
27
Reduced maternal plasma urocortin concentrations and impaired uterine artery blood flow at human mid pregnancy. (15784504)
2005
28
Streptococcal toxic shock syndrome and sepsis manifesting in a patient with chronic rheumatoid arthritis. (15347489)
2004
29
Therapeutic efficacy of sulfadoxine-pyrimethamine and prevalence of resistance markers in Tanzania prior to revision of malaria treatment policy: Plasmodium falciparum dihydrofolate reductase and dihydropteroate synthase mutations in monitoring in vivo resistance. (15642957)
2004
30
Connective tissue growth factor and its role in lung adenocarcinoma invasion and metastasis. (14996858)
2004
31
Sterol carrier protein-2-facilitated intermembrane transfer of cholesterol- and phospholipid-derived hydroperoxides. (15449949)
2004
32
Guidelines on preparation, certification, and use of certified plasmas for ISI calibration and INR determination. (15550026)
2004
33
Intensive hypermethylation of the CpG island of Ras association domain family 1A in hepatitis B virus-associated hepatocellular carcinomas. (12960125)
2003
34
Transition of arrestin into the active receptor-binding state requires an extended interdomain hinge. (12215448)
2002
35
Interleukin-1beta expression on ovarian granulosa cells and its clinical implication in women undergoing in vitro fertilization. (12377625)
2002
36
Increased frequency of IFN-gamma-producing peripheral CD8+ T cells with memory-phenotype in patients with chronic hepatitis C. (11992577)
2002
37
Subcutaneous phaeohyphomycosis caused by Phaeoacremonium rubrigenum in an immunosuppressed patient. (10234081)
1999
38
Stable overexpression of manganese superoxide dismutase in mitochondria identifies hydrogen peroxide as a major oxidant in the AP-1-mediated induction of matrix-degrading metalloprotease-1. (10464329)
1999
39
Characterization of proteinuria in primary glomerulonephritides: urinary polymers of albumin. (9292570)
1997
40
Muscarinic, N-methyl-D-aspartate (NMDA) and benzodiazepine receptor binding sites in cortical membranes from amyotrophic lateral sclerosis patients. (8981309)
1996
41
Differential regulation of retinoblastoma protein function by specific Cdk phosphorylation sites. (8626527)
1996
42
Incomplete testicular feminization syndrome: studies on androgen receptor(AR) function, AR gene analysis, and aromatase activities at puberty and long-term observations of clinical and hormonal features from infancy to puberty. (8980896)
1996
43
Bilateral testicular carcinoma in situ in persistent mA1llerian duct syndrome: a case report and literature review. (7941204)
1994
44
Cervical adenitis: report of two cases. (8182201)
1994
45
Radial shortening for the treatment of KienbAPck's disease. (8449618)
1993
46
The cerebrospinal fluid in patients with moyamoya disease (spontaneous occlusion of the circle of Willis) contains high level of basic fibroblast growth factor. (8247356)
1993
47
Nevoid basal cell carcinoma syndrome: bilateral ovarian fibromas in a 3 1/2-year-old girl. (3950141)
1986
48
Lymphomatoid granulomatosis. Report of a case and review of the literature. (707529)
1978
49
EEG INDUCED FAST ACTIVITY IN CHRONIC MANGANESE POISONING. (14192304)
1964
50

Variations for Ebstein Anomaly

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Expression for genes affiliated with Ebstein Anomaly

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Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for genes affiliated with Ebstein Anomaly

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GO Terms for genes affiliated with Ebstein Anomaly

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Cellular components related to Ebstein Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor complexGO:00905759.6GATA4, NKX2-5

Biological processes related to Ebstein Anomaly according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cardiac ventricle morphogenesisGO:00032089.9GATA4, NKX2-5
2cardiac muscle cell differentiationGO:00550079.8GATA4, NKX2-5
3atrial cardiac muscle cell developmentGO:00550149.7NKX2-5, NKX2-6
4atrial septum morphogenesisGO:00604139.6GATA4, NKX2-5
5heart loopingGO:00019479.5GATA4, NKX2-5
6embryonic heart tube developmentGO:00350509.4NKX2-5, NKX2-6
7pharyngeal system developmentGO:00600378.9NKX2-5, NKX2-6

Sources for Ebstein Anomaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet