MCID: TRC040
MIFTS: 46

Tracheoesophageal Fistula

Categories: Rare diseases

Aliases & Classifications for Tracheoesophageal Fistula

MalaCards integrated aliases for Tracheoesophageal Fistula:

Name: Tracheoesophageal Fistula 50 29 52
Tracheoesophageal Fistula with or Without Esophageal Atresia 50
Te Fistula 50
Tef 50

Classifications:



Summaries for Tracheoesophageal Fistula

NIH Rare Diseases : 50 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 pneumonia and imperforate anus. An important gene associated with Tracheoesophageal Fistula is SHH (Sonic Hedgehog), and among its related pathways/superpathways are Ectoderm Differentiation and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drug threonine has been mentioned in the context of this disorder. Affiliated tissues include trachea, lung and thyroid, and related phenotypes are cellular and embryo

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 143)
id Related Disease Score Top Affiliating Genes
1 pneumonia 30.2 SHH SYP
2 imperforate anus 27.7 CHD7 GLI3 LPP MYCN NOG SHH
3 esophageal atresia/tracheoesophageal fistula 12.5
4 pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula 12.0
5 tracheoesophageal fistula with or without esophageal atresia 12.0
6 tracheoesophageal fistula symphalangism 12.0
7 feingold syndrome 1 11.3
8 vater association with macrocephaly and ventriculomegaly 11.2
9 vacterl association, x-linked 11.2
10 vater/vacterl association 11.2
11 mitchell-riley syndrome 11.0
12 fanconi anemia, complementation group b 11.0
13 feingold syndrome 2 11.0
14 esophagitis 10.9
15 esophageal atresia 10.8
16 tsen34-related pontocerebellar hypoplasia 10.7 HOXD13 SHH
17 behcet syndrome 10.7 HOXD13 ZIC3
18 alopecia areata 1 10.6 GLI3 SHH
19 tarlov cysts 10.6 GLI3 HOXD13
20 immune-mediated encephalomyelitis 10.6 PTEN S100B
21 ovarian mucinous cystadenofibroma 10.5 PTEN S100B
22 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5 GLI3 PTEN
23 polydactyly, preaxial, type iv 10.4 GLI3 SHH
24 syringobulbia 10.4 GLI3 NOG
25 epidermal appendage tumor 10.4 PTEN SYP
26 orchitis 10.3 GLI3 PTEN SHH
27 simosa craniofacial syndrome 10.3 GLI3 HOXD13 NOG
28 devriendt syndrome 10.3 MYCN SYP
29 neurogenic thoracic outlet syndrome 10.2 S100B SYP
30 reticular pattern testicular yolk sac tumor 10.2 S100B SYP
31 hypogonadotropic hypogonadism without anosmia, x-linked 10.2 S100B SYP
32 adenofibroma 10.2 S100B SYP
33 pleural empyema 10.2 S100B SYP
34 malignant tumor of undescended testis 10.1 CHD7 SHH SOX2
35 laryngitis 10.1
36 duodenitis 10.1
37 sm-ahnmd 10.1 S100B SYP
38 papillary glioneuronal tumor 10.1 S100B SYP
39 tracheomalacia 10.1
40 pituitary dwarfism with large sella turcica 10.1 S100B SYP
41 classic variant of chromophobe renal cell carcinoma 10.1 SHH SYP
42 duodenal atresia 10.1
43 lymphoma 10.1
44 tracheal stenosis 10.1
45 uremia 10.1 SOX2 SYP
46 pediatric ependymoma 10.1 S100B SYP
47 esophageal cancer 10.1
48 congenital diaphragmatic hernia 10.1
49 hypersensitivity reaction type ii disease 10.0 MYCN SYP
50 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.0 PTEN S100B

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



Diseases related to Tracheoesophageal Fistula

Symptoms & Phenotypes for Tracheoesophageal Fistula

MGI Mouse Phenotypes related to Tracheoesophageal Fistula:

44 (show all 22)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 LPP NOG MYCN SOX2 SHH PTEN
2 embryo MP:0005380 10.27 MYCN PTEN NOG SOX2 SHH ZIC3
3 growth/size/body region MP:0005378 10.25 NOG MYCN HOXD13 SOX2 SHH PTEN
4 digestive/alimentary MP:0005381 10.23 MYCN PTEN NOG SOX2 SHH ZIC3
5 homeostasis/metabolism MP:0005376 10.22 LPP NOG MYCN PTEN S100B SOX2
6 mortality/aging MP:0010768 10.22 LPP NOG MYCN SOX2 SHH PTEN
7 behavior/neurological MP:0005386 10.21 MYCN SHH PTEN S100B SYP ZIC3
8 cardiovascular system MP:0005385 10.2 NOG MYCN SHH PTEN ZIC3 FANCA
9 craniofacial MP:0005382 10.19 NOG MYCN SOX2 SHH ZIC3 FANCA
10 endocrine/exocrine gland MP:0005379 10.16 NOG HOXD13 SOX2 SHH PTEN FANCA
11 limbs/digits/tail MP:0005371 10.1 MYCN PTEN NOG SHH ZIC3 HOXD13
12 nervous system MP:0003631 10.09 NOG MYCN PTEN SOX2 SHH ZIC3
13 normal MP:0002873 10.06 NOG MYCN PTEN S100B SOX2 SHH
14 reproductive system MP:0005389 10.06 LPP MYCN PTEN NOG SOX2 SHH
15 integument MP:0010771 10.05 NOG HOXD13 SHH PTEN S100B SOX2
16 hearing/vestibular/ear MP:0005377 10.01 NOG SOX2 SHH ZIC3 CHD7 GLI3
17 muscle MP:0005369 10 NOG MYCN HOXD13 SOX2 SHH PTEN
18 respiratory system MP:0005388 9.86 NOG MYCN SOX2 SHH PTEN ZIC3
19 renal/urinary system MP:0005367 9.85 NOG MYCN HOXD13 SHH PTEN GLI3
20 skeleton MP:0005390 9.85 MYCN PTEN NOG SOX2 SHH ZIC3
21 taste/olfaction MP:0005394 9.35 PTEN NOG SOX2 SHH GLI3
22 vision/eye MP:0005391 9.32 MYCN PTEN NOG SOX2 SHH ZIC3

Drugs & Therapeutics for Tracheoesophageal Fistula

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


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

Interventional clinical trials:


id 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 National Register of Oesophageal Atresia Recruiting NCT02883725
6 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Enrolling by invitation NCT02033772
7 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:

id Genetic test Affiliating Genes
1 Tracheoesophageal Fistula 29

Anatomical Context for Tracheoesophageal Fistula

MalaCards organs/tissues related to Tracheoesophageal Fistula:

39
Trachea, Lung, Thyroid, Colon, Bone, Heart, Testes

Publications for Tracheoesophageal Fistula

Articles related to Tracheoesophageal Fistula:

(show top 50) (show all 645)
id Title Authors Year
1
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
2
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
3
Tuberculous Tracheoesophageal Fistula: A Rare Entity. ( 28918864 )
2017
4
Endoscopic treatment of tracheoesophageal fistula using the over-the-scope-clip system. ( 28845115 )
2017
5
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
6
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
7
Ineffective Ventilation in A Neonate with A Large Pre-Carinal Tracheoesophageal Fistula and Bilateral Pneumonitis-Microcuff Endotracheal Tube to Our Rescue! ( 28083500 )
2017
8
Management of acquired nonmalignant tracheoesophageal fistula: Surgical pearls. ( 28916214 )
2017
9
Simple Technique of Bridging Wide Gap in Esophageal Atresia with Tracheoesophageal Fistula - "Surgical Innovation". ( 28694583 )
2017
10
Comparison of clinical outcomes between open and thoracoscopic repair for esophageal atresia with tracheoesophageal fistula: a systematic review and meta-analysis. ( 28914345 )
2017
11
Oesophageal atresia with no distal tracheoesophageal fistula: Management and outcomes from a population-based cohort. ( 27894760 )
2017
12
Tracheoesophageal fistula after total resection of gastric conduit for gastro-aortic fistula due to gastric ulcer. ( 28831760 )
2017
13
Management of recurrent tracheoesophageal fistula after esophageal atresia and follow-up. ( 28859370 )
2017
14
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
15
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
16
Evaluation of developmental prognosis for esophageal atresia with tracheoesophageal fistula. ( 28803355 )
2017
17
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
18
Magnetic Twin Stent for Short-Term Palliation of Acquired Nonmalignant Tracheoesophageal Fistula. ( 28838507 )
2017
19
Changes in quality of life from infancy to school age after esophagoesophagostomy for tracheoesophageal fistula: thoracotomy versus thoracoscopy. ( 28831606 )
2017
20
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
21
Novel use of porcine extracellular matrix in recurrent stricture following repair of tracheoesophageal fistula. ( 28756526 )
2017
22
Editorial: Oesophageal Atresia-Tracheoesophageal Fistula. ( 28913328 )
2017
23
Learning curve for the thoracoscopic repair of esophageal atresia with tracheoesophageal fistula. ( 28718991 )
2017
24
Respiratory Morbidity in Children with Repaired Congenital Esophageal Atresia with or without Tracheoesophageal Fistula. ( 28953251 )
2017
25
Unusual case of tracheoesophageal fistula caused by impacted denture. ( 28676178 )
2017
26
Sudden Increase in EtCO2 During Upper Endoscopy Under General Endotracheal Anesthesia Suggests the Presence of Tracheoesophageal Fistula: A Case Report. ( 28691980 )
2017
27
Clinical Study of Congenital Esophageal Stenosis: Comparison according to Association of Esophageal Atresia and Tracheoesophageal Fistula. ( 28730131 )
2017
28
Respiratory problems in children with esophageal atresia and tracheoesophageal fistula. ( 28870218 )
2017
29
Acquired tracheoesophageal fistula with undiagnosed tracheal stenosis: A simple innovation to avoid tracheostomy! ( 27942069 )
2016
30
Anesthetic Management of a Tracheoesophageal Fistula in a Patient With a Large Uncorrected Aortopulmonary Window. ( 27941485 )
2016
31
Esophageal Atresia with Tracheoesophageal Fistula. ( 27387366 )
2016
32
Tracheoesophageal fistula repair in a neonate with tetralogy of Fallot: An anesthetic challenge. ( 27625509 )
2016
33
Endoscopic Repair of Recurrent Tracheoesophageal Fistula With an Atrial Septal Occluder Device. ( 27847061 )
2016
34
Spontaneous Resolution of a Tracheoesophageal Fistula Caused by Button Battery Ingestion. ( 27195748 )
2016
35
Dual Use of Fiberoptic Bronchoscope in TracheoEsophageal Fistula. ( 28043317 )
2016
36
Esophageal Microperforation due to Calcified Mediastinal Lymph Node Leading to Tracheoesophageal Fistula. ( 27366334 )
2016
37
Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: Basics of technique and its nuances. ( 27365905 )
2016
38
Categorization and repair of recurrent and acquired tracheoesophageal fistulae occurring after esophageal atresia repair. ( 27616617 )
2016
39
Weekday vs. weekend repair of esophageal atresia and tracheoesophageal fistula. ( 26932247 )
2016
40
Congenital bilateral syngnathia and tracheoesophageal fistula: A rare presentation. ( 27994431 )
2016
41
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-KA1ster-Hauser syndrome in co-occurrence: two case reports and a review of the literature. ( 28003020 )
2016
42
Functional residual capacity and lung clearance index in infants treated for esophageal atresia and tracheoesophageal fistula. ( 26607967 )
2016
43
Endoscopic treatment of recurrent tracheoesophageal fistula with a combination of N-butyl-2-cyanocrylate (Histoacryl(Ar)) and lipiodol via esophagoscopy in a pediatric patient. ( 26817390 )
2016
44
Pedicled posterior pericardial repair of tracheoesophageal fistula after chemoradiotherapy for esophageal cancer. ( 26948167 )
2016
45
Intraoperative ventilatory management of adult tracheoesophageal fistula. ( 27654741 )
2016
46
Evaluation of the intraoperative risk factors for esophageal anastomotic complications after primary repair of esophageal atresia with tracheoesophageal fistula. ( 27461430 )
2016
47
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula. ( 27436264 )
2016
48
Late presenting iatrogenic tracheoesophageal fistula. ( 26936836 )
2016
49
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. ( 27607100 )
2016
50
Combined tracheoinnominate artery fistula and tracheoesophageal fistula: A very rare complication of indwelling tracheostomy tube. ( 27051118 )
2016

Variations for Tracheoesophageal Fistula

Expression for Tracheoesophageal Fistula

Search GEO for disease gene expression data for Tracheoesophageal Fistula.

Pathways for Tracheoesophageal Fistula

GO Terms for Tracheoesophageal Fistula

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

(show top 50) (show all 55)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.96 MYCN NOG PTEN SHH
2 transcription from RNA polymerase II promoter GO:0006366 9.92 GLI3 HOXD13 SOX2 ZIC3
3 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.92 CHD7 GLI3 HOXD13 MYCN NOG SHH
4 negative regulation of gene expression GO:0010629 9.89 MYCN NOG SHH
5 axon guidance GO:0007411 9.89 GLI3 NOG SHH
6 regulation of cell proliferation GO:0042127 9.89 FANCA GLI3 HOXD13 SHH
7 skeletal system development GO:0001501 9.87 CHD7 HOXD13 NOG
8 negative regulation of canonical Wnt signaling pathway GO:0090090 9.83 GLI3 NOG SHH SOX2
9 negative regulation of cell migration GO:0030336 9.82 NOG PTEN SHH
10 palate development GO:0060021 9.81 CHD7 GLI3 SHH
11 forebrain development GO:0030900 9.78 GLI3 SHH SOX2
12 camera-type eye development GO:0043010 9.77 CHD7 GLI3 SHH
13 negative regulation of cell differentiation GO:0045596 9.76 GLI3 NOG SHH
14 anterior/posterior pattern specification GO:0009952 9.76 GLI3 HOXD13 SHH ZIC3
15 somatic stem cell population maintenance GO:0035019 9.75 NOG SOX2 ZIC3
16 embryonic limb morphogenesis GO:0030326 9.74 GLI3 HOXD13 SHH
17 lung development GO:0030324 9.73 GLI3 MYCN SHH ZIC3
18 inner ear development GO:0048839 9.72 GLI3 SHH SOX2
19 metanephros development GO:0001656 9.71 GLI3 SHH
20 oligodendrocyte differentiation GO:0048709 9.71 GLI3 SHH
21 developmental growth GO:0048589 9.71 GLI3 SHH
22 neuron fate commitment GO:0048663 9.71 GLI3 SHH
23 pituitary gland development GO:0021983 9.7 NOG SOX2
24 T cell differentiation in thymus GO:0033077 9.7 GLI3 SHH
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 MYCN SHH
26 embryonic hindlimb morphogenesis GO:0035116 9.7 CHD7 SHH
27 limb morphogenesis GO:0035108 9.69 GLI3 HOXD13
28 positive regulation of neuroblast proliferation GO:0002052 9.69 GLI3 SHH
29 dorsal/ventral pattern formation GO:0009953 9.69 GLI3 NOG SHH
30 lung morphogenesis GO:0060425 9.68 NOG SHH
31 spinal cord motor neuron differentiation GO:0021522 9.68 GLI3 SHH
32 regulation of neuronal synaptic plasticity GO:0048168 9.68 S100B SYP
33 negative regulation of cardiac muscle cell proliferation GO:0060044 9.68 NOG PTEN
34 embryonic digestive tract morphogenesis GO:0048557 9.67 GLI3 SHH
35 male genitalia development GO:0030539 9.67 HOXD13 SHH
36 positive regulation of protein import into nucleus GO:0042307 9.67 GLI3 SHH
37 somite development GO:0061053 9.66 NOG SHH
38 anatomical structure development GO:0048856 9.65 GLI3 SHH
39 embryonic morphogenesis GO:0048598 9.65 GLI3 SHH
40 branching morphogenesis of an epithelial tube GO:0048754 9.65 GLI3 MYCN SHH
41 negative regulation of astrocyte differentiation GO:0048712 9.64 MYCN NOG
42 negative thymic T cell selection GO:0045060 9.64 GLI3 SHH
43 positive regulation of alpha-beta T cell differentiation GO:0046638 9.62 GLI3 SHH
44 artery development GO:0060840 9.61 GLI3 SHH
45 anatomical structure formation involved in morphogenesis GO:0048646 9.58 GLI3 NOG SHH
46 spinal cord dorsal/ventral patterning GO:0021513 9.56 GLI3 SHH
47 limb development GO:0060173 9.56 CHD7 GLI3 NOG SHH
48 embryonic digit morphogenesis GO:0042733 9.55 GLI3 HOXD13 MYCN NOG SHH
49 hindgut morphogenesis GO:0007442 9.54 GLI3 SHH
50 negative regulation of alpha-beta T cell differentiation GO:0046639 9.49 GLI3 SHH

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.55 GLI3 HOXD13 MYCN SOX2 ZIC3
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.26 CHD7 GLI3 HOXD13 ZIC3
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 8.92 GLI3 HOXD13 SOX2 ZIC3

Sources for 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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