MCID: ESP029
MIFTS: 23

Esophageal Atresia/tracheoesophageal Fistula malady

Category: Genetic diseases (common)

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

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Aliases & Descriptions for Esophageal Atresia/tracheoesophageal Fistula:

Name: Esophageal Atresia/tracheoesophageal Fistula 21 22 23
Esophageal Atresia with or Without Tracheoesophageal Fistula 65
 
Esophageal Atresia with Tracheoesophageal Fistula 65
Ea/tef 23

Classifications:



External Ids:

UMLS65 C0341154, C1861028

Summaries for Esophageal Atresia/tracheoesophageal Fistula

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Genetics Home Reference:23 Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result.

MalaCards based summary: Esophageal Atresia/tracheoesophageal Fistula, also known as esophageal atresia with or without tracheoesophageal fistula, is related to breast cancer and ataxia-telangiectasia. An important gene associated with Esophageal Atresia/tracheoesophageal Fistula is FANCM (Fanconi Anemia Complementation Group M), and among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Affiliated tissues include trachea, b cells and testis, and related mouse phenotypes are reproductive system and mortality/aging.

GeneReviews summary for NBK5192

Related Diseases for Esophageal Atresia/tracheoesophageal Fistula

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Diseases related to Esophageal Atresia/tracheoesophageal Fistula via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer10.3
2ataxia-telangiectasia10.3
3chagas disease10.3
4candidiasis10.3
5chronic mucocutaneous candidiasis10.3
6neuroaxonal dystrophy10.3
7bruxism10.3
8pancreatitis10.3
9neuronitis10.3
10ataxia10.3
11endotheliitis10.3
12intestinal atresia9.8GLI3, LPP
13urethritis9.3FANCI, FANCL, FANCM
14mental retardation, autosomal recessive 459.2FANCI, FANCL, FANCM
15fbln5-related cutis laxa8.7FANCI, FANCL, FANCM, GLI3, LPP

Graphical network of diseases related to Esophageal Atresia/tracheoesophageal Fistula:



Diseases related to esophageal atresia/tracheoesophageal fistula

Symptoms for Esophageal Atresia/tracheoesophageal Fistula

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Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood GasesRecruitingNCT01467245
2Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic SurgeryEnrolling by invitationNCT02033772

Search NIH Clinical Center for Esophageal Atresia/tracheoesophageal Fistula

Genetic Tests for Esophageal Atresia/tracheoesophageal Fistula

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Genetic tests related to Esophageal Atresia/tracheoesophageal Fistula:

id Genetic test Affiliating Genes
1 Esophageal Atresia/tracheoesophageal Fistula22

Anatomical Context for Esophageal Atresia/tracheoesophageal Fistula

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MalaCards organs/tissues related to Esophageal Atresia/tracheoesophageal Fistula:

33
Trachea, B cells, Testis

Animal Models for Esophageal Atresia/tracheoesophageal Fistula or affiliated genes

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MGI Mouse Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4FANCL, FANCM, GLI3, LPP
2MP:00107687.5FANCI, FANCL, FANCM, GLI3, LPP

Publications for Esophageal Atresia/tracheoesophageal Fistula

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Articles related to Esophageal Atresia/tracheoesophageal Fistula:

(show all 15)
idTitleAuthorsYear
1
A nationwide population-based retrospective cohort study: increased risk of acute coronary syndrome in patients with ankylosing spondylitis. (24134400)
2013
2
Intravitreal bevacizumab for choroidal neovascularization secondary to laser photocoagulation for central serous chorioretinopathy. (21928270)
2012
3
Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population. (20174631)
2010
4
Increased MYC gene copy number correlates with increased mRNA levels in diffuse large B-cell lymphoma. (20378577)
2010
5
Recent advances in autoimmune pancreatitis. (19240063)
2009
6
Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. (16949240)
2007
7
Clinical application of methylation specific-polymerase chain reaction in serum of patients with gastric cancer. (17591100)
2007
8
Hsp90 inhibitor geldanamycin increases hsp70 mRNA stabilisation but fails to activate HSF1 in cells exposed to hydrostatic pressure. (15777846)
2005
9
Mechanisms of antigen receptor evolution. (15522620)
2004
10
Association between variation in the actin-binding gene caldesmon and diabetic nephropathy in type 1 diabetes. (15047636)
2004
11
Inhibition of lipid raft-dependent signaling by a dystrophy-associated mutant of caveolin-3. (11884389)
2002
12
Multistate outbreak of listeriosis--United States, 2000. (11190115)
2000
13
Molecular cloning of guinea pig membrane cofactor protein: preferential expression in testis. (8943400)
1996
14
Growth hormone receptor and dwarfism]. (7939185)
1994
15
Treatment of congenital factor VII deficiency with a new concentrate. (705696)
1978

Variations for Esophageal Atresia/tracheoesophageal Fistula

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Expression for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

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Search GEO for disease gene expression data for Esophageal Atresia/tracheoesophageal Fistula.

Pathways for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

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GO Terms for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

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Biological processes related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interstrand cross-link repairGO:00362978.7FANCI, FANCL, FANCM

Sources for Esophageal Atresia/tracheoesophageal Fistula

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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