MCID: ESP029
MIFTS: 27

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 esophageal atresia and tracheoesophageal fistula. 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, endothelial and b cells, 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 13)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia10.7
2tracheoesophageal fistula10.7
3esophagitis10.7
4congenital diaphragmatic hernia10.3
5gastroesophageal reflux10.1
6hypertrophic pyloric stenosis10.1
7pyloric stenosis10.1
8vacterl association10.1
9truncus arteriosus10.1
10intestinal atresia9.7GLI3, LPP
11urethritis9.0FANCI, FANCL, FANCM
12mental retardation, autosomal recessive 458.8FANCI, FANCL, FANCM
13fbln5-related cutis laxa8.0FANCI, 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, Endothelial, B cells, Testis, Breast, Lung

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 16)
idTitleAuthorsYear
1
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. (27139297)
2016
2
Outcome of esophageal atresia/tracheoesophageal fistula in extremely low birth weight neonates (&lt;1000A grams). (26519042)
2015
3
Validation of measures from a thoracoscopic esophageal atresia/tracheoesophageal fistula repair simulator. (24439576)
2014
4
Evaluation of Three Sources of Validity Evidence for a Synthetic Thoracoscopic Esophageal Atresia/Tracheoesophageal Fistula Repair Simulator. (25314617)
2014
5
Quality of reporting of the literature on gastrointestinal reflux after repair of esophageal atresia-tracheoesophageal fistula. (25783329)
2014
6
Post-operative management of esophageal atresia-tracheoesophageal fistula and gastroesophageal reflux: a Canadian Association of Pediatric Surgeons annual meeting survey. (24851754)
2014
7
The management of postoperative reflux in congenital esophageal atresia-tracheoesophageal fistula: a systematic review. (25011995)
2014
8
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
9
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? (20954108)
2011
10
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. (20113643)
2010
11
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. (20221592)
2010
12
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. (20006009)
2009
13
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. (15933889)
2005
14
The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia. (15602760)
2005
15
Esophageal atresia/tracheoesophageal fistula and associated congenital esophageal stenosis. (9174027)
1997
16
Esophageal Atresia/Tracheoesophageal Fistula Overview (20301753)
1993

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