MCID: ESP029
MIFTS: 30

Esophageal Atresia/tracheoesophageal Fistula malady

Categories: Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

Aliases & Descriptions for Esophageal Atresia/tracheoesophageal Fistula:

Name: Esophageal Atresia/tracheoesophageal Fistula 12 23 24 25 14
Esophageal Atresia with or Without Tracheoesophageal Fistula 69
Tracheoesophageal Fistula with or Without Esohageal Atresia 12
Esophageal Atresia and/or Tracheoesophageal Fistula 12
Esophageal Atresia with Tracheoesophageal Fistula 69
Ea/tef 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0080171

Summaries for Esophageal Atresia/tracheoesophageal Fistula

Genetics Home Reference : 25 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 FANCI (Fanconi Anemia Complementation Group I), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Affiliated tissues include trachea and lung, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Disease Ontology : 12 A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing.

GeneReviews: NBK5192

Related Diseases for Esophageal Atresia/tracheoesophageal Fistula

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula 11.7
2 esophageal atresia 10.6
3 esophagitis 10.6
4 congenital diaphragmatic hernia 10.1
5 hypertrophic pyloric stenosis 10.0
6 pyloric stenosis 10.0
7 gastroesophageal reflux 10.0
8 adrenal cortical hypofunction 9.9 GLI3 LPP
9 tricho odonto onychodysplasia syndactyly dominant type 9.7 FANCI FANCL GLI3
10 glanders 9.6 FANCI FANCL FANCM
11 lymphedema-distichiasis syndrome 9.4 ERCC4 FANCI FANCL FANCM
12 cloacal exstrophy 9.1 ERCC4 FANCI FANCL FANCM GLI3 LPP

Graphical network of the top 20 diseases related to Esophageal Atresia/tracheoesophageal Fistula:



Diseases related to Esophageal Atresia/tracheoesophageal Fistula

Symptoms & Phenotypes for Esophageal Atresia/tracheoesophageal Fistula

GenomeRNAi Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 ERCC4 FANCI FANCL FANCM

MGI Mouse Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 FANCL FANCM GLI3 LPP ERCC4
2 mortality/aging MP:0010768 9.43 ERCC4 FANCI FANCL FANCM GLI3 LPP
3 reproductive system MP:0005389 8.92 FANCL FANCM GLI3 LPP

Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

Interventional clinical trials:


id Name Status NCT ID Phase
1 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245
2 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
3 National Register of Oesophageal Atresia Recruiting NCT02883725
4 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Enrolling by invitation NCT02033772

Search NIH Clinical Center for Esophageal Atresia/tracheoesophageal Fistula

Genetic Tests for Esophageal Atresia/tracheoesophageal Fistula

Genetic tests related to Esophageal Atresia/tracheoesophageal Fistula:

id Genetic test Affiliating Genes
1 Esophageal Atresia/tracheoesophageal Fistula 24

Anatomical Context for Esophageal Atresia/tracheoesophageal Fistula

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

39
Trachea, Lung

Publications for Esophageal Atresia/tracheoesophageal Fistula

Articles related to Esophageal Atresia/tracheoesophageal Fistula:

(show all 19)
id Title Authors Year
1
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
2
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. ( 27139297 )
2016
3
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. ( 27607100 )
2016
4
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children with Esophageal Atresia- Tracheoesophageal Fistula. ( 27579697 )
2016
5
Outcome of esophageal atresia/tracheoesophageal fistula in extremely low birth weight neonates (<1000A grams). ( 26519042 )
2015
6
Evaluation of Three Sources of Validity Evidence for a Synthetic Thoracoscopic Esophageal Atresia/Tracheoesophageal Fistula Repair Simulator. ( 25314617 )
2014
7
Quality of reporting of the literature on gastrointestinal reflux after repair of esophageal atresia-tracheoesophageal fistula. ( 25783329 )
2014
8
Post-operative management of esophageal atresia-tracheoesophageal fistula and gastroesophageal reflux: a Canadian Association of Pediatric Surgeons annual meeting survey. ( 24851754 )
2014
9
The management of postoperative reflux in congenital esophageal atresia-tracheoesophageal fistula: a systematic review. ( 25011995 )
2014
10
Validation of measures from a thoracoscopic esophageal atresia/tracheoesophageal fistula repair simulator. ( 24439576 )
2014
11
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. ( 22639458 )
2012
12
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? ( 20954108 )
2011
13
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. ( 20113643 )
2010
14
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. ( 20221592 )
2010
15
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. ( 20006009 )
2009
16
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. ( 15933889 )
2005
17
The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia. ( 15602760 )
2005
18
Esophageal atresia/tracheoesophageal fistula and associated congenital esophageal stenosis. ( 9174027 )
1997
19
Esophageal Atresia/Tracheoesophageal Fistula Overview ( 20301753 )
1993

Variations for Esophageal Atresia/tracheoesophageal Fistula

Expression for Esophageal Atresia/tracheoesophageal Fistula

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

Pathways for Esophageal Atresia/tracheoesophageal Fistula

GO Terms for Esophageal Atresia/tracheoesophageal Fistula

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.63 ERCC4 FANCI FANCL FANCM GLI3 LPP
2 nucleoplasm GO:0005654 9.35 ERCC4 FANCI FANCL FANCM GLI3
3 Fanconi anaemia nuclear complex GO:0043240 8.62 FANCL FANCM

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

id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.46 ERCC4 FANCI FANCL FANCM
2 DNA metabolic process GO:0006259 9.32 ERCC4 FANCM
3 resolution of meiotic recombination intermediates GO:0000712 9.26 ERCC4 FANCM
4 DNA repair GO:0006281 9.26 ERCC4 FANCI FANCL FANCM
5 interstrand cross-link repair GO:0036297 8.92 ERCC4 FANCI FANCL FANCM

Molecular functions related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.26 ERCC4 FANCI FANCM GLI3
2 nuclease activity GO:0004518 8.62 ERCC4 FANCM

Sources for Esophageal Atresia/tracheoesophageal Fistula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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