MCID: ESP029
MIFTS: 24

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 22 23 24
Esophageal Atresia with or Without Tracheoesophageal Fistula 66
 
Esophageal Atresia with Tracheoesophageal Fistula 66
Ea/tef 24

Classifications:



Summaries for Esophageal Atresia/tracheoesophageal Fistula

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Genetics Home Reference:24 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 tracheoesophageal fistula and esophageal atresia. 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 and lung, 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
1tracheoesophageal fistula11.8
2esophageal atresia10.8
3esophagitis10.8
4congenital diaphragmatic hernia10.3
5gastroesophageal reflux10.1
6hypertrophic pyloric stenosis10.1
7pyloric stenosis10.1
8vacterl association10.1
9microphthalmia9.5FANCI, FANCL
10imperforate anus9.4GLI3, LPP
11bejel9.1FANCI, FANCL, FANCM
12lymphedema-distichiasis syndrome9.0FANCI, FANCL, FANCM
13fgfr-related craniosynostosis syndromes8.0FANCI, 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
2National Register of Oesophageal AtresiaRecruitingNCT02883725
3Prospective 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 Fistula23

Anatomical Context for Esophageal Atresia/tracheoesophageal Fistula

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

34
Trachea, Lung

Animal Models for Esophageal Atresia/tracheoesophageal Fistula or affiliated genes

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MGI Mouse Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula:

39
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 18)
idTitleAuthorsYear
1
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. (27607100)
2016
2
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. (27139297)
2016
3
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children with Esophageal Atresia- Tracheoesophageal Fistula. (27579697)
2016
4
Outcome of esophageal atresia/tracheoesophageal fistula in extremely low birth weight neonates (&lt;1000A grams). (26519042)
2015
5
Post-operative management of esophageal atresia-tracheoesophageal fistula and gastroesophageal reflux: a Canadian Association of Pediatric Surgeons annual meeting survey. (24851754)
2014
6
Validation of measures from a thoracoscopic esophageal atresia/tracheoesophageal fistula repair simulator. (24439576)
2014
7
Evaluation of Three Sources of Validity Evidence for a Synthetic Thoracoscopic Esophageal Atresia/Tracheoesophageal Fistula Repair Simulator. (25314617)
2014
8
Quality of reporting of the literature on gastrointestinal reflux after repair of esophageal atresia-tracheoesophageal fistula. (25783329)
2014
9
The management of postoperative reflux in congenital esophageal atresia-tracheoesophageal fistula: a systematic review. (25011995)
2014
10
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
11
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? (20954108)
2011
12
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. (20113643)
2010
13
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. (20221592)
2010
14
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. (20006009)
2009
15
The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia. (15602760)
2005
16
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. (15933889)
2005
17
Esophageal atresia/tracheoesophageal fistula and associated congenital esophageal stenosis. (9174027)
1997
18
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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Cellular components related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:004324010.1FANCL, FANCM
2nucleoplasmGO:00056548.2FANCI, FANCL, FANCM, GLI3

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

idNameGO IDScoreTop Affiliating Genes
1regulation of cell proliferationGO:00421279.4FANCL, GLI3
2interstrand cross-link repairGO:00362978.6FANCI, FANCL, FANCM

Sources for Esophageal Atresia/tracheoesophageal Fistula

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet