MCID: ESP029
MIFTS: 33

Esophageal Atresia/tracheoesophageal Fistula

Categories: Gastrointestinal diseases

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

MalaCards integrated aliases for Esophageal Atresia/tracheoesophageal Fistula:

Name: Esophageal Atresia/tracheoesophageal Fistula 12 24 25 15
Esophageal Atresia with or Without Tracheoesophageal Fistula 73
Tracheoesophageal Fistula with or Without Esohageal Atresia 12
Esophageal Atresia and/or Tracheoesophageal Fistula 12
Esophageal Atresia with Tracheoesophageal Fistula 73
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 esophageal atresia and tracheomalacia. An important gene associated with Esophageal Atresia/tracheoesophageal Fistula is TEF (TEF, PAR BZIP Transcription Factor), and among its related pathways/superpathways is Heart Development. Affiliated tissues include trachea, lung and heart, and related phenotypes are growth/size/body region and homeostasis/metabolism

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 top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia 31.8 LPP TEF
2 tracheomalacia 31.1 TBX4 TEF
3 tracheoesophageal fistula 11.8
4 tracheoesophageal fistula with or without esophageal atresia 10.8
5 esophagitis 10.8
6 tracheal disease 10.6 TBX4 TEF
7 mediastinitis 10.5 NKX2-6 TEF
8 diaphragm disease 10.3 FGF10 TEF
9 diaphragmatic hernia, congenital 10.3
10 diaphragmatic eventration 10.3 NKX2-6 TEF
11 chromosomal deletion syndrome 10.2 NKX2-6 TBX1
12 fungal esophagitis 10.2 ATP12A ATP4A
13 bladder calculus 10.1 ATP12A ATP4A
14 gastrointestinal neuroendocrine benign tumor 10.1 ATP12A ATP4A
15 neonatal candidiasis 10.1 ATP12A ATP4A
16 photoallergic dermatitis 10.1 ATP12A ATP4A
17 squamous papillomatosis 10.1 ATP12A ATP4A
18 acute laryngitis 10.1 ATP12A ATP4A
19 gastroduodenal crohn's disease 10.1 ATP12A ATP4A
20 gastric neuroendocrine neoplasm 10.1 ATP12A ATP4A
21 toxic megacolon 10.1 ATP12A ATP4A
22 aspiration pneumonitis 10.1 ATP12A ATP4A
23 postsurgical hypothyroidism 10.1 ATP12A ATP4A
24 gastric antral vascular ectasia 10.1 ATP12A ATP4A
25 esophageal candidiasis 10.1 ATP12A ATP4A
26 duodenitis 10.1 ATP12A ATP4A
27 rumination disorder 10.1 ATP12A ATP4A
28 bile reflux 10.1 ATP12A ATP4A
29 granulomatous gastritis 10.1 ATP12A ATP4A
30 active peptic ulcer disease 10.1 ATP12A ATP4A
31 laryngeal disease 10.1 ATP12A ATP4A
32 ischemic neuropathy 10.1 ATP12A ATP4A
33 capillary disease 10.1 ATP12A ATP4A
34 peptic esophagitis 10.1 ATP12A ATP4A
35 duodenal disease 10.1 ATP12A ATP4A
36 conotruncal heart malformations 10.1 NKX2-6 TBX1
37 hernia, hiatus 10.1 ATP12A ATP4A
38 congenital disorder of deglycosylation 10.1 ATP12A ATP4A
39 anismus 10.1 ATP12A ATP4A
40 laryngitis 10.1 ATP12A ATP4A
41 laryngeal tuberculosis 10.1 ATP12A ATP4A
42 gastroesophageal reflux 10.1
43 vater/vacterl association 10.1
44 heart disease 10.1
45 hypertrophic pyloric stenosis 10.1
46 pyloric stenosis 10.1
47 vacterl association 10.1
48 lymphocytic colitis 10.1 ATP12A ATP4A
49 clostridium difficile colitis 10.1 ATP12A ATP4A
50 lower urinary tract calculus 10.1 ATP12A ATP4A

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

MGI Mouse Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 TBX4 ATP12A CAND2 FGF10 IDH1 NKX2-6
2 homeostasis/metabolism MP:0005376 9.65 TBX4 TEF ATP12A ATP4A CAND2 FGF10
3 mortality/aging MP:0010768 9.23 TBX4 TEF ATP4A FGF10 IDH1 LPP

Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245 Not Applicable

Search NIH Clinical Center for Esophageal Atresia/tracheoesophageal Fistula

Genetic Tests for Esophageal Atresia/tracheoesophageal Fistula

Anatomical Context for Esophageal Atresia/tracheoesophageal Fistula

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

41
Trachea, Lung, Heart

Publications for Esophageal Atresia/tracheoesophageal Fistula

Articles related to Esophageal Atresia/tracheoesophageal Fistula:

(show all 25)
# Title Authors Year
1
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. ( 29399473 )
2018
2
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. ( 29325785 )
2018
3
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
4
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
5
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
6
Chewing Function in Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula. ( 29212093 )
2017
7
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
8
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children with Esophageal Atresia- Tracheoesophageal Fistula. ( 27579697 )
2016
9
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. ( 27139297 )
2016
10
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. ( 27607100 )
2016
11
Outcome of esophageal atresia/tracheoesophageal fistula in extremely low birth weight neonates (<1000A grams). ( 26519042 )
2015
12
Quality of reporting of the literature on gastrointestinal reflux after repair of esophageal atresia-tracheoesophageal fistula. ( 25783329 )
2014
13
Post-operative management of esophageal atresia-tracheoesophageal fistula and gastroesophageal reflux: a Canadian Association of Pediatric Surgeons annual meeting survey. ( 24851754 )
2014
14
Validation of measures from a thoracoscopic esophageal atresia/tracheoesophageal fistula repair simulator. ( 24439576 )
2014
15
Evaluation of Three Sources of Validity Evidence for a Synthetic Thoracoscopic Esophageal Atresia/Tracheoesophageal Fistula Repair Simulator. ( 25314617 )
2014
16
The management of postoperative reflux in congenital esophageal atresia-tracheoesophageal fistula: a systematic review. ( 25011995 )
2014
17
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. ( 22639458 )
2012
18
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? ( 20954108 )
2011
19
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. ( 20221592 )
2010
20
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. ( 20113643 )
2010
21
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. ( 20006009 )
2009
22
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. ( 15933889 )
2005
23
The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia. ( 15602760 )
2005
24
Esophageal atresia/tracheoesophageal fistula and associated congenital esophageal stenosis. ( 9174027 )
1997
25
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

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

# Super pathways Score Top Affiliating Genes
1 10.29 FGF10 TBX1

GO Terms for Esophageal Atresia/tracheoesophageal Fistula

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.69 FGF10 TBX1 TBX4
2 positive regulation of epithelial cell proliferation GO:0050679 9.57 FGF10 TBX1
3 odontogenesis of dentin-containing tooth GO:0042475 9.56 FGF10 TBX1
4 thymus development GO:0048538 9.55 FGF10 TBX1
5 digestive tract development GO:0048565 9.54 FGF10 NKX2-6
6 potassium ion import GO:0010107 9.52 ATP12A ATP4A
7 ATP hydrolysis coupled proton transport GO:0015991 9.49 ATP12A ATP4A
8 blood vessel morphogenesis GO:0048514 9.48 FGF10 TBX1
9 thyroid gland development GO:0030878 9.46 FGF10 TBX1
10 limb morphogenesis GO:0035108 9.43 FGF10 TBX4
11 pharyngeal system development GO:0060037 9.4 NKX2-6 TBX1
12 cellular sodium ion homeostasis GO:0006883 9.37 ATP12A ATP4A
13 cellular potassium ion homeostasis GO:0030007 9.32 ATP12A ATP4A
14 sodium ion export across plasma membrane GO:0036376 9.26 ATP12A ATP4A
15 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.16 ATP12A ATP4A
16 semicircular canal morphogenesis GO:0048752 8.96 FGF10 TBX1
17 muscle cell fate commitment GO:0042693 8.62 FGF10 TBX1

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP12A ATP4A
2 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP12A ATP4A

Sources for Esophageal Atresia/tracheoesophageal Fistula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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