MCID: TRC040
MIFTS: 47

Tracheoesophageal Fistula

Categories: Rare diseases

Aliases & Classifications for Tracheoesophageal Fistula

MalaCards integrated aliases for Tracheoesophageal Fistula:

Name: Tracheoesophageal Fistula 49 28 51
Tracheoesophageal Fistula with or Without Esophageal Atresia 49
Te Fistula 49
Tef 49

Classifications:



Summaries for Tracheoesophageal Fistula

NIH Rare Diseases : 49 Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia). In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%. Last updated: 7/8/2015

MalaCards based summary : Tracheoesophageal Fistula, also known as tracheoesophageal fistula with or without esophageal atresia, is related to tracheoesophageal fistula with or without esophageal atresia and esophageal atresia. An important gene associated with Tracheoesophageal Fistula is BRCA2 (BRCA2, DNA Repair Associated), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drug threonine has been mentioned in the context of this disorder. Affiliated tissues include trachea, lung and heart, and related phenotypes are Decreased ionizing radiation sensitivity and Increased viability with MLN4924 (a NAE inhibitor)

Wikipedia : 72 A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula)... more...

Related Diseases for Tracheoesophageal Fistula

Diseases related to Tracheoesophageal Fistula via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula with or without esophageal atresia 34.1 BRCA2 PALB2
2 esophageal atresia 31.7 CHD7 GLI3 MYCN SOX2
3 fanconi anemia, complementation group b 29.5 FANCA FANCB FANCC FANCD2 FANCE FANCF
4 esophageal atresia/tracheoesophageal fistula 12.6
5 isolated tracheoesophageal fistula 12.3
6 tracheoesophageal fistula symphalangism 12.1
7 martinez-frias syndrome 11.9
8 vater/vacterl association 11.6
9 feingold syndrome 1 11.5
10 vacterl association with hydrocephalus 11.3
11 vacterl association, x-linked, with or without hydrocephalus 11.3
12 feingold syndrome 2 11.1
13 mitchell-riley syndrome 11.1
14 esophagitis 11.0
15 bap1 tumor predisposition syndrome 10.4 BRCA2 PALB2
16 maternal uniparental disomy of chromosome 16 10.3 FANCA SLX4
17 tumor predisposition syndrome 10.3 BRCA2 PALB2
18 brain cancer 10.2 GLI3 MYCN SOX2
19 laryngitis 10.2
20 duodenitis 10.2
21 lymphoma 10.2
22 tracheomalacia 10.2
23 duodenal atresia 10.2
24 tracheal stenosis 10.2
25 fanconi anemia, complementation group d2 10.2 BRCA2 FANCD2
26 esophageal cancer 10.1
27 diaphragmatic hernia, congenital 10.1
28 lung agenesis 10.1
29 cervicitis 10.1
30 tracheal agenesis 10.1
31 hypertrophic pyloric stenosis 10.1
32 pyloric stenosis 10.1
33 mediastinitis 10.1
34 lung cancer 10.1
35 right aortic arch 10.1
36 ampulla of vater adenocarcinoma 10.0 BRCA2 SOX2
37 gastroesophageal reflux 10.0
38 respiratory failure 10.0
39 heart disease 10.0
40 thyroiditis 10.0
41 laryngeal cleft 10.0
42 dysphagia 10.0
43 anus, imperforate 10.0
44 deficiency anemia 9.9 FANCA FANCC FANCD2
45 tricuspid atresia 9.9
46 achalasia 9.9
47 microcephaly 9.9
48 dextrocardia 9.9
49 aspiration pneumonia 9.9
50 aspergillosis 9.9

Graphical network of the top 20 diseases related to Tracheoesophageal Fistula:



Diseases related to Tracheoesophageal Fistula

Symptoms & Phenotypes for Tracheoesophageal Fistula

GenomeRNAi Phenotypes related to Tracheoesophageal Fistula according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 9.81 FANCI GLI3 MID1 BRCA2 BRIP1 CHD7
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 FANCL FANCM PALB2 RAD51C BRCA2 BRIP1
3 Synthetic lethal with Ras GR00018-A-0 9.17 GLI3 MID1 BRCA2 CHD7 FANCA FANCC

MGI Mouse Phenotypes related to Tracheoesophageal Fistula:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 FANCD2 FANCA BRCA2 FANCB BRIP1 FANCC
2 endocrine/exocrine gland MP:0005379 10.35 FANCD2 FANCA BRCA2 FANCB BRIP1 FANCC
3 growth/size/body region MP:0005378 10.3 CHD7 FANCD2 FANCA BRCA2 FANCB PALB2
4 mortality/aging MP:0010768 10.24 CHD7 FANCD2 FANCA BRCA2 FANCM PALB2
5 homeostasis/metabolism MP:0005376 10.21 CHD7 FANCD2 FANCA BRCA2 FANCB BRIP1
6 embryo MP:0005380 10.19 CHD7 FANCA BRCA2 PALB2 GLI3 MID1
7 reproductive system MP:0005389 10.06 FANCA BRCA2 FANCB BRIP1 FANCC CHD7
8 nervous system MP:0003631 9.96 CHD7 BRCA2 BRIP1 MYCN FANCD2 GLI3
9 limbs/digits/tail MP:0005371 9.95 CHD7 FANCD2 BRCA2 GLI3 MYCN PALB2
10 neoplasm MP:0002006 9.92 FANCD2 FANCA BRCA2 BRIP1 FANCM PALB2
11 skeleton MP:0005390 9.61 CHD7 FANCA BRCA2 FANCC GLI3 FANCL
12 vision/eye MP:0005391 9.23 CHD7 FANCD2 FANCA GLI3 FANCL MYCN

Drugs & Therapeutics for Tracheoesophageal Fistula

Drugs for Tracheoesophageal Fistula (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 threonine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device Terminated NCT01153061 Phase 4
2 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245
3 Trichloroacetic Acid for Endoscopic Tracho-esophageal Fistula Repair Unknown status NCT01287312
4 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
5 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
6 High-resolution Esophageal Manometry Completed NCT03415893
7 National Register of Oesophageal Atresia Recruiting NCT02883725
8 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843

Search NIH Clinical Center for Tracheoesophageal Fistula

Genetic Tests for Tracheoesophageal Fistula

Genetic tests related to Tracheoesophageal Fistula:

# Genetic test Affiliating Genes
1 Tracheoesophageal Fistula 28 BRCA2 BRIP1 CHD7 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GLI3 MID1 MYCN PALB2 RAD51C SLX4 SOX2

Anatomical Context for Tracheoesophageal Fistula

MalaCards organs/tissues related to Tracheoesophageal Fistula:

38
Trachea, Lung, Heart, Thyroid, Bone, Colon, B Cells

Publications for Tracheoesophageal Fistula

Articles related to Tracheoesophageal Fistula:

(show top 50) (show all 662)
# Title Authors Year
1
Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia. ( 29373345 )
2018
2
Successful endoscopic closure of tracheoesophageal fistula using a Padlock ClipTM. ( 29442487 )
2018
3
Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula. ( 29429769 )
2018
4
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. ( 29325785 )
2018
5
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. ( 29399473 )
2018
6
Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula. ( 29429770 )
2018
7
Pneumothorax in a preterm during tracheoesophageal fistula repair: Challenges in diagnosis and management. ( 29416484 )
2018
8
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
9
Respiratory problems in children with esophageal atresia and tracheoesophageal fistula. ( 28870218 )
2017
10
Successful endoscopic closure of a refractory button-battery tracheoesophageal fistula in a 3-year child using endoscopic submucosal dissection of the surrounding mucosa. ( 28662536 )
2017
11
Oesophageal atresia with no distal tracheoesophageal fistula: Management and outcomes from a population-based cohort. ( 27894760 )
2017
12
Respiratory Morbidity in Children with Repaired Congenital Esophageal Atresia with or without Tracheoesophageal Fistula. ( 28953251 )
2017
13
Isolated tracheoesophageal fistula versus esophageal atresia - Early morbidity and short-term outcome. A single institution series. ( 28166998 )
2017
14
Evaluation of developmental prognosis for esophageal atresia with tracheoesophageal fistula. ( 28803355 )
2017
15
Postintubation Tracheoesophageal Fistula - Diagnosis, Treatment and Prognosis. ( 29288612 )
2017
16
Deep endoscopic submucosal dissection of a refractory tracheoesophageal fistula using clip-and-line traction: a successful closure. ( 28992634 )
2017
17
Ineffective Ventilation in A Neonate with A Large Pre-Carinal Tracheoesophageal Fistula and Bilateral Pneumonitis-Microcuff Endotracheal Tube to Our Rescue! ( 28083500 )
2017
18
Management of recurrent tracheoesophageal fistula after esophageal atresia and follow-up. ( 28859370 )
2017
19
Treatment of tracheoesophageal fistula after laryngectomy by a customized tracheal prosthesis. ( 29193191 )
2017
20
Simple Technique of Bridging Wide Gap in Esophageal Atresia with Tracheoesophageal Fistula - "Surgical Innovation". ( 28694583 )
2017
21
Changes in quality of life from infancy to school age after esophagoesophagostomy for tracheoesophageal fistula: thoracotomy versus thoracoscopy. ( 28831606 )
2017
22
Recurrent tracheoesophageal fistula in an adolescent without persistent symptoms: A case report. ( 29145294 )
2017
23
Using Bronchoscopy to Detect Acquired Tracheoesophageal Fistula in Mechanically Ventilated Patients. ( 29430408 )
2017
24
Late Onset Chemo/Radiation Induced Tracheoesophageal Fistula in Squamous Cell Cancer of the Lung. ( 29147454 )
2017
25
Unusual case of tracheoesophageal fistula caused by impacted denture. ( 28676178 )
2017
26
Tracheoesophageal fistula after total resection of gastric conduit for gastro-aortic fistula due to gastric ulcer. ( 28831760 )
2017
27
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 )
2017
28
Endoscopic treatment of tracheoesophageal fistula using the over-the-scope-clip system. ( 28845115 )
2017
29
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
30
Magnetic Twin Stent for Short-Term Palliation of Acquired Nonmalignant Tracheoesophageal Fistula. ( 28838507 )
2017
31
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
32
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
33
Learning curve for the thoracoscopic repair of esophageal atresia with tracheoesophageal fistula. ( 28718991 )
2017
34
Surgery for a large tracheoesophageal fistula using extracorporeal membrane oxygenation. ( 29221332 )
2017
35
Novel use of porcine extracellular matrix in recurrent stricture following repair of tracheoesophageal fistula. ( 28756526 )
2017
36
Clinical Study of Congenital Esophageal Stenosis: Comparison according to Association of Esophageal Atresia and Tracheoesophageal Fistula. ( 28730131 )
2017
37
Successful Thoracic Duct Embolization for Treatment of anA Iatrogenic Left Chylothorax inA aA Neonate after Repair of a Tracheoesophageal Fistula and Esophageal Atresia. ( 28841955 )
2017
38
Editorial: Oesophageal Atresia-Tracheoesophageal Fistula. ( 28913328 )
2017
39
Primary esophageal diffuse large B cell lymphoma presenting with tracheoesophageal fistula: A rare case and review. ( 29085570 )
2017
40
Sudden Increase in EtCO2 During Upper Endoscopy Under General Endotracheal Anesthesia Suggests the Presence of Tracheoesophageal Fistula: A Case Report. ( 28691980 )
2017
41
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
42
Management of acquired nonmalignant tracheoesophageal fistula: Surgical pearls. ( 28916214 )
2017
43
Tuberculous Tracheoesophageal Fistula: A Rare Entity. ( 28918864 )
2017
44
Comparison of clinical outcomes between open and thoracoscopic repair for esophageal atresia with tracheoesophageal fistula: a systematic review and meta-analysis. ( 28914345 )
2017
45
Chewing Function in Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula. ( 29212093 )
2017
46
Perioperative management and outcomes of esophageal atresia and tracheoesophageal fistula. ( 27993359 )
2016
47
Spontaneous Resolution of a Tracheoesophageal Fistula Caused by Button Battery Ingestion. ( 27195748 )
2016
48
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. ( 27139297 )
2016
49
Intraoperative ventilatory management of adult tracheoesophageal fistula. ( 27654741 )
2016
50
The use of a sternothyroid muscle flap to prevent the re-recurrence of a recurrent tracheoesophageal fistula found 10A years after the primary repair. ( 27589983 )
2016

Variations for Tracheoesophageal Fistula

ClinVar genetic disease variations for Tracheoesophageal Fistula:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
2 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
3 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
4 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
5 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
6 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
7 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
8 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471

Expression for Tracheoesophageal Fistula

Search GEO for disease gene expression data for Tracheoesophageal Fistula.

Pathways for Tracheoesophageal Fistula

Pathways related to Tracheoesophageal Fistula according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
2
Show member pathways
12.47 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
3 12.3 BRCA2 BRIP1 FANCA FANCB FANCD2
4
Show member pathways
12.1 BRCA2 BRIP1 PALB2 RAD51C SLX4
5
Show member pathways
11.95 BRCA2 BRIP1 PALB2 RAD51C SLX4
6
Show member pathways
11.78 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
7 11.48 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
8 11.16 FANCA FANCC FANCD2 FANCE FANCF FANCG

GO Terms for Tracheoesophageal Fistula

Cellular components related to Tracheoesophageal Fistula according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.91 BRCA2 BRIP1 CHD7 FANCA FANCB FANCC
2 Holliday junction resolvase complex GO:0048476 9.26 RAD51C SLX4
3 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCA FANCB FANCC FANCE FANCF FANCG
4 nucleus GO:0005634 10.13 BRCA2 BRIP1 CHD7 FANCA FANCB FANCC

Biological processes related to Tracheoesophageal Fistula according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.83 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
2 DNA recombination GO:0006310 9.76 BRCA2 PALB2 RAD51C SLX4
3 nucleotide-excision repair GO:0006289 9.67 BRCA2 FANCC SLX4
4 double-strand break repair via homologous recombination GO:0000724 9.67 BRCA2 PALB2 RAD51C SLX4
5 DNA synthesis involved in DNA repair GO:0000731 9.62 BRCA2 BRIP1 PALB2 RAD51C
6 neuronal stem cell population maintenance GO:0097150 9.61 FANCC FANCD2 SOX2
7 female gonad development GO:0008585 9.58 BRCA2 FANCA
8 gamete generation GO:0007276 9.58 FANCC FANCD2 FANCL
9 male meiosis I GO:0007141 9.57 BRCA2 RAD51C
10 brain morphogenesis GO:0048854 9.56 FANCC FANCD2
11 strand displacement GO:0000732 9.56 BRCA2 BRIP1 PALB2 RAD51C
12 resolution of meiotic recombination intermediates GO:0000712 9.55 FANCM SLX4
13 regulation of regulatory T cell differentiation GO:0045589 9.54 FANCA FANCD2
14 inner cell mass cell proliferation GO:0001833 9.52 BRCA2 PALB2
15 telomere maintenance via recombination GO:0000722 9.51 BRCA2 RAD51C
16 regulation of CD40 signaling pathway GO:2000348 9.48 FANCA FANCD2
17 interstrand cross-link repair GO:0036297 9.36 FANCA FANCB FANCC FANCD2 FANCE FANCF
18 DNA repair GO:0006281 10.03 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2

Molecular functions related to Tracheoesophageal Fistula according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.65 BRCA2 BRIP1 CHD7 FANCI FANCM GLI3
2 protein binding GO:0005515 9.6 BRCA2 BRIP1 CHD7 FANCA FANCB FANCC
3 DNA polymerase binding GO:0070182 9.26 FANCD2 FANCI
4 crossover junction endodeoxyribonuclease activity GO:0008821 9.16 RAD51C SLX4

Sources for Tracheoesophageal Fistula

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