MCID: ESP029
MIFTS: 25

Esophageal Atresia/tracheoesophageal Fistula malady

Genetic diseases (common) category

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

About this section

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:



Summaries for Esophageal Atresia/tracheoesophageal Fistula

About this section
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 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 cellular.

GeneReviews summary for tef-ov

Related Diseases for Esophageal Atresia/tracheoesophageal Fistula

About this section

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



Diseases related to esophageal atresia/tracheoesophageal fistula

Symptoms for Esophageal Atresia/tracheoesophageal Fistula

About this section

Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

About this section

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

About this section

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

About this section

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

33
Trachea, Lung

Animal Models for Esophageal Atresia/tracheoesophageal Fistula or affiliated genes

About this section

MGI Mouse Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4FANCL, FANCM, GLI3, LPP
2MP:00053848.3FANCL, FANCM, GLI3, LPP

Publications for Esophageal Atresia/tracheoesophageal Fistula

About this section

Articles related to Esophageal Atresia/tracheoesophageal Fistula:

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

Variations for Esophageal Atresia/tracheoesophageal Fistula

About this section

Expression for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

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

Pathways for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

About this section

GO Terms for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

About this section

Cellular components related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:004324010.2FANCL, 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:00421279.1FANCL, GLI3
2interstrand cross-link repairGO:00362978.9FANCI, FANCL, FANCM
3DNA repairGO:00062818.7FANCI, FANCL, FANCM

Sources for Esophageal Atresia/tracheoesophageal Fistula

About this section
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