MCID: ESP029
MIFTS: 36

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 25 26 15
Esophageal Atresia with or Without Tracheoesophageal Fistula 74
Tracheoesophageal Fistula with or Without Esohageal Atresia 12
Esophageal Atresia and/or Tracheoesophageal Fistula 12
Esophageal Atresia with Tracheoesophageal Fistula 74
Ea/tef 26

Classifications:



External Ids:

Disease Ontology 12 DOID:0080171

Summaries for Esophageal Atresia/tracheoesophageal Fistula

Genetics Home Reference : 26 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 Transcription Factor, PAR BZIP Family Member), and among its related pathways/superpathways is Heart Development. Affiliated tissues include trachea, heart and lung, and related phenotypes are homeostasis/metabolism and growth/size/body region

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 73)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia 32.0 LPP TEF
2 tracheomalacia 30.8 TBX4 TEF
3 diaphragmatic hernia, congenital 30.5 FGF10 TEF
4 tracheoesophageal fistula 12.0
5 tracheoesophageal fistula with or without esophageal atresia 11.0
6 tracheal disease 10.3 TBX4 TEF
7 duodenal atresia 10.3 FGF10 TEF
8 gastroesophageal reflux 10.2
9 vater/vacterl association 10.2
10 heart disease 10.2
11 hypertrophic pyloric stenosis 10.2
12 pyloric stenosis 10.2
13 vacterl association 10.2
14 fungal esophagitis 10.2 ATP12A ATP4A
15 diclofenac allergy 10.2 ATP12A ATP4A
16 gastroduodenal crohn's disease 10.2 ATP12A ATP4A
17 neonatal candidiasis 10.2 ATP12A ATP4A
18 photoallergic dermatitis 10.2 ATP12A ATP4A
19 squamous papillomatosis 10.2 ATP12A ATP4A
20 toxic megacolon 10.2 ATP12A ATP4A
21 aspiration pneumonitis 10.2 ATP12A ATP4A
22 gastrointestinal neuroendocrine benign tumor 10.2 ATP12A ATP4A
23 gastric antral vascular ectasia 10.2 ATP12A ATP4A
24 granulomatous gastritis 10.1 ATP12A ATP4A
25 esophageal candidiasis 10.1 ATP12A ATP4A
26 gastric neuroendocrine neoplasm 10.1 ATP12A ATP4A
27 acute laryngitis 10.1 ATP12A ATP4A
28 laryngitis 10.1 ATP12A ATP4A
29 duodenitis 10.1 ATP12A ATP4A
30 rumination disorder 10.1 ATP12A ATP4A
31 active peptic ulcer disease 10.1 ATP12A ATP4A
32 congenital disorder of deglycosylation 10.1 ATP12A ATP4A
33 bladder calculus 10.1 ATP12A ATP4A
34 ischemic neuropathy 10.1 ATP12A ATP4A
35 bile reflux 10.1 ATP12A ATP4A
36 capillary disease 10.1 ATP12A ATP4A
37 peptic esophagitis 10.1 ATP12A ATP4A
38 hernia, hiatus 10.1 ATP12A ATP4A
39 anismus 10.1 ATP12A ATP4A
40 postsurgical hypothyroidism 10.1 ATP12A ATP4A
41 lymphocytic colitis 10.1 ATP12A ATP4A
42 clostridium difficile colitis 10.1 ATP12A ATP4A
43 diarrhea 1, secretory chloride, congenital 10.1 ATP12A ATP4A
44 esophagitis, eosinophilic, 1 10.1 ATP12A ATP4A
45 microscopic colitis 10.1 ATP12A ATP4A
46 laryngeal tuberculosis 10.1 ATP12A ATP4A
47 chronic laryngitis 10.1 ATP12A ATP4A
48 eosinophilic gastritis 10.1 ATP12A ATP4A
49 esophagus adenocarcinoma 10.1 ATP12A ATP4A
50 chronic intestinal vascular insufficiency 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 ATP12A ATP4A CAND2 FGF10 IDH1 LPP
2 growth/size/body region MP:0005378 9.8 ATP12A CAND2 FGF10 IDH1 TBX1 TBX4
3 mortality/aging MP:0010768 9.56 ATP4A FGF10 IDH1 LPP TBX1 TBX4
4 skeleton MP:0005390 9.1 CAND2 FGF10 IDH1 TBX1 TBX4 VCP

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
2 Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
3 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491

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:

42
Trachea, Heart, Lung, Skin

Publications for Esophageal Atresia/tracheoesophageal Fistula

Articles related to Esophageal Atresia/tracheoesophageal Fistula:

(show all 39)
# Title Authors Year
1
Relationships between hospital and surgeon operative volumes and outcomes of esophageal atresia/tracheoesophageal fistula repair. ( 30401496 )
2019
2
Postoperative noninvasive ventilation and complications in esophageal atresia-tracheoesophageal fistula. ( 30814037 )
2019
3
Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula. ( 31103274 )
2019
4
Vocal cord paralysis appears to be an acquired lesion in children with repaired esophageal atresia/tracheoesophageal fistula. ( 30055738 )
2018
5
Prevalence and natural history of scoliosis and associated congenital vertebral anomalies in patients operated for esophageal atresia with or without tracheoesophageal fistula. ( 30301608 )
2018
6
Developmental Status of Children Operated for Esophageal Atresia with or without Tracheoesophageal Fistula Along with Maternal Stress, Their Quality of life, and Coping Abilities at AIIMS, New Delhi. ( 30597492 )
2018
7
Chewing Function in Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula. ( 29212093 )
2018
8
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. ( 29325785 )
2018
9
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. ( 29399473 )
2018
10
Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. ( 28061520 )
2018
11
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
12
Feeding Problems and Their Underlying Mechanisms in the Esophageal Atresia-Tracheoesophageal Fistula Patient. ( 28620597 )
2017
13
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
14
Respiratory Morbidity in Children with Repaired Congenital Esophageal Atresia with or without Tracheoesophageal Fistula. ( 28953251 )
2017
15
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. ( 27607100 )
2017
16
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
17
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
18
Outcome of esophageal atresia/tracheoesophageal fistula in extremely low birth weight neonates (<1000 grams). ( 26519042 )
2016
19
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. ( 27139297 )
2016
20
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula. ( 27579697 )
2016
21
Evaluation of Three Sources of Validity Evidence for a Synthetic Thoracoscopic Esophageal Atresia/Tracheoesophageal Fistula Repair Simulator. ( 25314617 )
2015
22
Quality of reporting of the literature on gastrointestinal reflux after repair of esophageal atresia-tracheoesophageal fistula. ( 25783329 )
2015
23
Post-operative management of esophageal atresia-tracheoesophageal fistula and gastroesophageal reflux: a Canadian Association of Pediatric Surgeons annual meeting survey. ( 24851754 )
2014
24
The management of postoperative reflux in congenital esophageal atresia-tracheoesophageal fistula: a systematic review. ( 25011995 )
2014
25
Validation of measures from a thoracoscopic esophageal atresia/tracheoesophageal fistula repair simulator. ( 24439576 )
2014
26
Long-term respiratory complications of congenital esophageal atresia with or without tracheoesophageal fistula: an update. ( 23679034 )
2013
27
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. ( 22639458 )
2012
28
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? ( 20954108 )
2011
29
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. ( 20113643 )
2010
30
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. ( 20221592 )
2010
31
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. ( 20006009 )
2009
32
Esophageal atresia with or without tracheoesophageal fistula: success and failure in 94 cases. ( 16761448 )
2006
33
The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia. ( 15602760 )
2005
34
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. ( 15933889 )
2005
35
Esophageal atresia/tracheoesophageal fistula and associated congenital esophageal stenosis. ( 9174027 )
1997
36
Care of infants with esophageal atresia, tracheoesophageal fistula, and associated anomalies. ( 3682853 )
1987
37
Stomach rupture associated with esophageal atresia, tracheoesophageal fistula, and ventilatory assistance. ( 6767350 )
1980
38
Family studies on congenital esophageal atresia with or without tracheoesophageal fistula. ( 393323 )
1979
39
Esophageal atresia, tracheoesophageal fistula, and associated anomalies. Hyperalimentation as an aid in treatment. ( 5028323 )
1972

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 16)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.67 FGF10 TBX1 TBX4
2 inner ear morphogenesis GO:0042472 9.56 FGF10 TBX1
3 positive regulation of epithelial cell proliferation GO:0050679 9.55 FGF10 TBX1
4 odontogenesis of dentin-containing tooth GO:0042475 9.54 FGF10 TBX1
5 thymus development GO:0048538 9.52 FGF10 TBX1
6 potassium ion import across plasma membrane GO:1990573 9.51 ATP12A ATP4A
7 ATP hydrolysis coupled proton transport GO:0015991 9.48 ATP12A ATP4A
8 blood vessel morphogenesis GO:0048514 9.46 FGF10 TBX1
9 thyroid gland development GO:0030878 9.43 FGF10 TBX1
10 limb morphogenesis GO:0035108 9.4 FGF10 TBX4
11 cellular sodium ion homeostasis GO:0006883 9.37 ATP12A ATP4A
12 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP12A ATP4A
13 cellular potassium ion homeostasis GO:0030007 9.26 ATP12A ATP4A
14 sodium ion export across plasma membrane GO:0036376 9.16 ATP12A ATP4A
15 muscle cell fate commitment GO:0042693 8.96 FGF10 TBX1
16 semicircular canal morphogenesis GO:0048752 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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