Esophageal Atresia/tracheoesophageal Fistula

Categories: Gastrointestinal diseases, Respiratory diseases

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

MalaCards integrated aliases for Esophageal Atresia/tracheoesophageal Fistula:

Name: Esophageal Atresia/tracheoesophageal Fistula 12 43 15
Esophageal Atresia with or Without Tracheoesophageal Fistula 70
Tracheoesophageal Fistula with or Without Esohageal Atresia 12
Esophageal Atresia and/or Tracheoesophageal Fistula 12
Esophageal Atresia with Tracheoesophageal Fistula 70
Esophageal Atresia / Tracheoesophageal Fistula 25
Ea/tef 43


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Disease Ontology 12 DOID:0080171
UMLS 70 C0341154 C1861028

Summaries for Esophageal Atresia/tracheoesophageal Fistula

MedlinePlus Genetics : 43 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.In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. A small number of infants have only one of these abnormalities.There are several types of EA/TEF, classified by the location of the malformation and the structures that are affected. In more than 80 percent of cases, the lower section of the malformed esophagus is connected to the trachea (EA with a distal TEF). Other possible configurations include having the upper section of the malformed esophagus connected to the trachea (EA with a proximal TEF), connections to the trachea from both the upper and lower sections of the malformed esophagus (EA with proximal and distal TEF), an esophagus that is malformed but does not connect to the trachea (isolated EA), and a connection to the trachea from an otherwise normal esophagus (H-type TEF with no EA).While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may enter the windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis). Esophageal atresia blocks liquids fed to the infant from entering the stomach, so they are spit back up, sometimes along with fluids from the respiratory tract. EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids.EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected individuals. In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF).

MalaCards based summary : Esophageal Atresia/tracheoesophageal Fistula, also known as esophageal atresia with or without tracheoesophageal fistula, is related to esophageal atresia and tracheoesophageal fistula with or without esophageal atresia. An important gene associated with Esophageal Atresia/tracheoesophageal Fistula is AMER3 (APC Membrane Recruitment Protein 3). Affiliated tissues include trachea, fetal lung and brain.

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

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

Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 A Multi-Center Randomized Trial of Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair Unknown status NCT03730454 Phase 4
2 Chewing Function in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
3 Concerns of Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
4 A Mixed Methods Exploration of Early Feeding in Children Born With Oesophageal Atresia/Trache-oesophageal Fistula. Recruiting NCT04183621

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:

Trachea, Fetal Lung, Brain, Heart, Lung, Breast, Pituitary

Publications for Esophageal Atresia/tracheoesophageal Fistula

Articles related to Esophageal Atresia/tracheoesophageal Fistula:

(show top 50) (show all 120)
# Title Authors PMID Year
Structural and numerical changes of chromosome X in patients with esophageal atresia. 25
24398799 2014
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies. 25
24931924 2014
Current status of prenatal diagnosis, operative management and outcome of esophageal atresia/tracheo-esophageal fistula. 25
18302317 2008
VACTERL association and maternal diabetes: a possible causal relationship? 25
18181216 2008
Prenatal diagnosis of tracheo-oesophageal fistula and oesophageal atresia. 25
17457956 2007
Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. 25
17336605 2007
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 25
16299066 2006
Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. 25
11223849 2001
Esophageal atresia and tracheoesophageal fistula. 25
10068713 1999
Prenatal diagnosis of esophageal atresia. 25
8523220 1995
An international collaborative study of the epidemiology of esophageal atresia or stenosis. 25
8274816 1993
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. 61
32641753 2021
Management of Esophageal Lung in a Patient With VACTERL Anomalies. 61
32683935 2020
Experience of Minimally Invasive Surgery in Neonates with Congenital Malformations in a Tertiary Care Pediatric Hospital. 61
33487941 2020
Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistula. 61
32415337 2020
Care recommendations for the respiratory complications of esophageal atresia-tracheoesophageal fistula. 61
32716120 2020
Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula. 61
32737176 2020
Genetic Mouse Models and Induced Pluripotent Stem Cells for Studying Tracheal-Esophageal Separation and Esophageal Development. 61
32515280 2020
Scoliosis after thoracotomy repair of esophageal atresia: a systematic review. 61
32451635 2020
H-type congenital tracheoesophageal fistula: Insights from 70 years of The Royal Children's Hospital experience. 61
32807528 2020
The value of prophylactic chest tubes in tracheoesophageal fistula repair. 61
32377785 2020
Assessment of the Concerns of Caregivers of Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula Related to Feeding-Swallowing Difficulties. 61
31410568 2020
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. 61
32250545 2020
Nationwide analysis of mortality and hospital readmissions in esophageal atresia. 61
32061361 2020
The functional chewing training for chewing dysfunction in children with repaired EA-TEF. 61
31109732 2020
Transition Zone in Total Colonic Aganglionosis and Colorectal Hirschsprung's Disease Shows a Similar Trend of Mucosal Innervation: Image Processing and Analysis Study. 61
31387515 2020
Development of an instrumented thoracoscopic surgical trainer for objective evaluation of esophageal atresia/tracheoesophageal fistula repair. 61
31927721 2020
Innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy. 61
30908672 2020
Pediatric Esophageal Dilatations: A Cross-Specialty Experience. 61
31794681 2020
Outcome of thoracoscopic repair of type-C esophageal atresia: a single-center experience from North Africa. 61
32052010 2020
Intraoperative Recurrent Laryngeal Nerve Monitoring During Pediatric Cardiac and Thoracic Surgery: A Mini Review. 61
33330282 2020
Critical design and validation considerations for the development of neonatal minimally invasive surgery simulators. 61
31213289 2019
Neonatal surgery in low- vs. high-volume institutions: a KID inpatient database outcomes and cost study after repair of congenital diaphragmatic hernia, esophageal atresia, and gastroschisis. 61
31372730 2019
Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula. 61
31103274 2019
Vocal cord dysfunction following esophageal atresia and tracheoesophageal fistula (EA/TEF) repair. 61
30274710 2019
Postoperative noninvasive ventilation and complications in esophageal atresia-tracheoesophageal fistula. 61
30814037 2019
Relationships between hospital and surgeon operative volumes and outcomes of esophageal atresia/tracheoesophageal fistula repair. 61
30401496 2019
Chewing Function in Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula. 61
29212093 2018
Vocal cord paralysis appears to be an acquired lesion in children with repaired esophageal atresia/tracheoesophageal fistula. 61
30055738 2018
Long-term Quality of Life in Neonatal Surgical Disease. 61
29994930 2018
Novel thoracoscopic navigation surgery for neonatal chylothorax using indocyanine-green fluorescent lymphography. 61
29486888 2018
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. 61
29325785 2018
Advanced minimal access surgery in infants weighing less than 3kg: A single center experience. 61
28549685 2018
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. 61
29399473 2018
Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease. 61
28709660 2017
Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects. 61
29152924 2017
Alterations in hyolaryngeal elevation after esophageal anastomosis: A possible mechanism for airway aspiration. 61
28412031 2017
Perioperative management and outcomes of esophageal atresia and tracheoesophageal fistula. 61
27993359 2017
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. 61
28631351 2017
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. 61
27607100 2017

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

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

# Name GO ID Score Top Affiliating Genes
1 forebrain development GO:0030900 9.37 SOX2 GLI3
2 negative regulation of neuron differentiation GO:0045665 9.32 SOX2 GLI3
3 inner ear development GO:0048839 9.26 SOX2 GLI3
4 pattern specification process GO:0007389 9.16 GLI3 APC2
5 regulation of cell differentiation GO:0045595 8.96 GLI3 APC2
6 negative regulation of canonical Wnt signaling pathway GO:0090090 8.8 SOX2 GLI3 APC2

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.8 GLI3 APC2 AMER3

Sources for Esophageal Atresia/tracheoesophageal Fistula

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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