MCID: TRC040
MIFTS: 51

Tracheoesophageal Fistula malady

Rare diseases category

Summaries for Tracheoesophageal Fistula

About this section


Wikipedia:65 A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula)... more...

MalaCards based summary: Tracheoesophageal Fistula, also known as esophageal atresia with or without tracheoesophageal fistula, is related to esophageal atresia and vacterl association, and has symptoms including esophageal atresiaand tracheoesophageal fistula. An important gene associated with Tracheoesophageal Fistula is SHH (sonic hedgehog), and among its related pathways are Cardiac Progenitor Differentiation and Hedgehog signaling events mediated by Gli proteins. The compounds cyclopamine and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include trachea, lung and bone, and related mouse phenotypes are pigmentation and tumorigenesis.

Aliases & Classifications for Tracheoesophageal Fistula

About this section
Sources:
43NIH Rare Diseases, 45Novoseek
See all sources

Tracheoesophageal Fistula, Aliases & Descriptions:

Name: Tracheoesophageal Fistula 43 45
Esophageal Atresia with or Without Tracheoesophageal Fistula 43
 
Tracheoesophageal Fistula with or Without Esophageal Atresia 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Tracheoesophageal Fistula

About this section

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

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia31.9NOG, SHH
2vacterl association30.7HOXD13, SHH, LPP
3pallister-hall syndrome30.2SHH, GLI3
4esophagitis11.3
5esophageal atresia/tracheoesophageal fistula10.8
6duodenitis10.6
7laryngitis10.6
8duodenal atresia10.5
9tracheal agenesis without tracheoesophageal fistula10.5
10feingold syndrome10.5
11tracheal stenosis10.5
12tracheomalacia10.5
13esophageal cancer10.5
14congenital diaphragmatic hernia10.5
15tracheal agenesis10.5
16lung cancer10.4
17cervicitis10.4
18gastroesophageal reflux10.3
19imperforate anus10.3
20hypertrophic pyloric stenosis10.3
21pyloric stenosis10.3
22respiratory failure10.3
23thyroiditis10.3
24laryngeal cleft10.3
25pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula10.3
26pulmonary function10.3
27mitchell-riley syndrome10.3
28fanconi anemia, complementation group b10.3
29vacterl association, x-linked10.3
30microcephaly10.3
31situs inversus10.3
32achalasia10.3
33aspiration pneumonia10.3
34congenital heart disease10.3
35dermatomyositis10.3
36mediastinitis10.3
37pneumonia10.3
38congenital tracheal stenosis10.3
39tracheoesophageal fistula symphalangism10.3
40tricuspid atresia10.3
41dysphagia10.3
42ulna and fibula, absence of, with severe limb deficiency10.1
43microphthalmia, syndromic 310.1
44treacher collins syndrome 110.1
45wegener granulomatosis10.1
46williams-beuren syndrome10.1
47charge syndrome10.1
48renal hypodysplasia/aplasia 110.1
49aspergillosis10.1
50feingold syndrome 210.1

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



Diseases related to tracheoesophageal fistula

Symptoms for Tracheoesophageal Fistula

About this section

HPO human phenotypes related to Tracheoesophageal Fistula:

id Description Frequency HPO Source Accession
1 esophageal atresia HP:0002032
2 tracheoesophageal fistula HP:0002575

Drugs & Therapeutics for Tracheoesophageal Fistula

About this section

Drug clinical trials:

Search ClinicalTrials for Tracheoesophageal Fistula

Search NIH Clinical Center for Tracheoesophageal Fistula

Genetic Tests for Tracheoesophageal Fistula

About this section

Anatomical Context for Tracheoesophageal Fistula

About this section

MalaCards organs/tissues related to Tracheoesophageal Fistula:

33
Trachea, Lung, Bone, Heart, Colon, Thyroid, Testes, Bone marrow, Kidney, Pancreas, Skin, T cells, B cells

Animal Models for Tracheoesophageal Fistula or affiliated genes

About this section

MGI Mouse Phenotypes related to Tracheoesophageal Fistula:

37 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0PTEN, SOX2, GLI3
2MP:00020068.8FANCA, SOX2, PTEN, SHH
3MP:00053778.8SHH, SOX2, CHD7, GLI3, NOG
4MP:00053948.7SHH, PTEN, SOX2, GLI3, NOG
5MP:00028738.7SHH, PTEN, SOX2, MYCN, NOG
6MP:00053868.5CHD7, MYCN, SOX2, PTEN, SHH
7MP:00030128.2HOXD13, SHH, SOX2, MYCN, GLI3
8MP:00053978.1SHH, PTEN, MYCN, CHD7, FANCA
9MP:00053698.0HOXD13, SHH, PTEN, SOX2, MYCN, NOG
10MP:00053888.0SHH, PTEN, SOX2, MYCN, CHD7, GLI3
11MP:00053677.9HOXD13, SHH, PTEN, MYCN, GLI3, NOG
12MP:00053857.8SHH, PTEN, MYCN, CHD7, FANCA, GLI3
13MP:00107717.8HOXD13, SHH, PTEN, SOX2, GLI3, NOG
14MP:00053827.6SHH, PTEN, SOX2, MYCN, CHD7, FANCA
15MP:00053717.6HOXD13, SHH, PTEN, MYCN, CHD7, GLI3
16MP:00053767.3SHH, PTEN, SOX2, MYCN, CHD7, LPP
17MP:00053817.2HOXD13, SHH, PTEN, SOX2, MYCN, CHD7
18MP:00036317.1HOXD13, SHH, PTEN, SOX2, MYCN, CHD7
19MP:00053797.1HOXD13, SHH, PTEN, SOX2, CHD7, FANCA
20MP:00053846.9SHH, PTEN, SOX2, MYCN, CHD7, FANCA
21MP:00053916.8HOXD13, SHH, PTEN, SOX2, MYCN, CHD7
22MP:00053906.8HOXD13, SHH, PTEN, SOX2, MYCN, CHD7
23MP:00053806.8HOXD13, SHH, PTEN, SOX2, MYCN, CHD7
24MP:00053786.7HOXD13, SHH, PTEN, SOX2, MYCN, CHD7
25MP:00053896.2NOG, HOXD13, SHH, PTEN, SOX2, MYCN
26MP:00107686.1HOXD13, SHH, PTEN, SOX2, MYCN, CHD7

Publications for Tracheoesophageal Fistula

About this section

Articles related to Tracheoesophageal Fistula:

(show top 50)    (show all 539)
idTitleAuthorsYear
1
Esophageal Dysmotility Is Present Before Surgery in Isolated Tracheoesophageal Fistula. (25493344)
2015
2
A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula. (25783403)
2015
3
Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: overcoming the learning curve. (25475795)
2014
4
Management of a congenital tracheoesophageal fistula in a young Spanish water dog. (24423070)
2014
5
VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula withA Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their UpperA Limb Involvement. (24210691)
2013
6
A case series study of therapeutic implications of type IIIb4: a rare variant of esophageal atresia and distal tracheoesophageal fistula. (23895955)
2013
7
Video: argon plasma coagulator in a 2-month-old child with tracheoesophageal fistula. (22476825)
2012
8
Thoracoscopic treatment of congenital esophageal stenosis in combination with H-type tracheoesophageal fistula. (22901927)
2012
9
Comparison of neonatal tolerance to thoracoscopic and open repair of esophageal atresia with tracheoesophageal fistula. (23044311)
2012
10
Selective bilateral bronchial intubation for large, acquired tracheoesophageal fistula. (22474805)
2012
11
Congenital tracheoesophageal fistula. (22272674)
2012
12
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
13
Analysis of saliva pepsin level in patients with tracheoesophageal fistula and voice prosthesis complications. (23397763)
2012
14
Usefulness of dextranomer/hyaluronic acid copolymer in bronchoscopic treatment of recurrent tracheoesophageal fistula in children. (21782257)
2011
15
Tracheoesophageal fistula closed by chemoradiotherapy in lung cancer. (21769294)
2011
16
Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. (20112230)
2010
17
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. (20113643)
2010
18
Diagnosis of esophageal atresia with tracheoesophageal fistula: is there a need for gastrointestinal contrast? (20056230)
2010
19
Pulmonary squamous cell carcinoma associated with repaired congenital tracheoesophageal fistula and esophageal atresia. (20054858)
2010
20
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. (20006009)
2009
21
Congenital tracheoesophageal fistula in an elderly patient with thoracic empyema. (19908119)
2009
22
Sternohyoid muscle flap interposition in the treatment of an acquired tracheoesophageal fistula. (19260113)
2009
23
Longitudinal follow-up of bronchial inflammation, respiratory symptoms, and pulmonary function in adolescents after repair of esophageal atresia with tracheoesophageal fistula. (18534205)
2008
24
Eosinophilic esophagitis and intermediate esophagitis after tracheoesophageal fistula repair: a case series. (18485944)
2008
25
Severe stridor following the repair of H-type tracheoesophageal fistula in an 11 month infant. (19235526)
2008
26
Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula. (17848225)
2007
27
Treatment of tracheoesophageal fistula in a child by using an endoscopic suturing device. (17208241)
2007
28
An unknown second tracheoesophageal fistula: a rare cause of postoperative respiratory failure. (16618307)
2006
29
Anesthetic management of tracheoesophageal fistula repair in a newborn with hypoplastic left heart syndrome. (16677272)
2006
30
Faulty bone morphogenetic protein signaling in esophageal atresia with tracheoesophageal fistula. (16818050)
2006
31
High-grade congenital esophageal stenosis owing to a membranous diaphragm with tracheoesophageal fistula. (16226967)
2005
32
Esophageal atresia with double tracheoesophageal fistula--a case report and review of the literature. (16254849)
2005
33
Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
2004
34
An endotracheal/tracheostomy tube technique for the emergency management of a midtracheal tracheoesophageal fistula. (12819001)
2003
35
Tracheoesophageal fistula caused by a self-expanding esophageal stent. (10215238)
1999
36
Simplifying the Waterston's stratification of infants with tracheoesophageal fistula. (10515532)
1999
37
Successful long-term endoscopic closure of a recurrent tracheoesophageal fistula with fibrin glue in a child. (10402124)
1999
38
Esophageal patching for an unsuturable tracheoesophageal fistula. (9845151)
1998
39
Split pectoralis major flap for massive tracheoesophageal fistula. (9419118)
1997
40
Elective, postoperative ventilation in the management of esophageal atresia and tracheoesophageal fistula. (9099641)
1997
41
Esophageal duplication cyst with esophageal web and tracheoesophageal fistula. (8811570)
1996
42
Coexisting left congenital diaphragmatic hernia and esophageal atresia with tracheoesophageal fistula: successful management in a premature neonate. (8811578)
1996
43
Use of an intratracheal silicone prosthesis (Dumon type) for the treatment of tracheoesophageal fistula due to advanced lung cancer. (8931224)
1996
44
Bronchoscopy and occlusion of tracheoesophageal fistula. (8638821)
1996
45
Radiology rounds. Tracheoesophageal fistula. (7787487)
1995
46
Simple technique for proximal pouch mobilization and circular myotomy in cases of esophageal atresia with tracheoesophageal fistula. (7807338)
1994
47
Recurrent tracheoesophageal fistula treated with fibrin glue. (7877030)
1994
48
Tracheoesophageal fistula caused by mycobacterial tuberculosis adenopathy. (8512414)
1993
49
Esophageal atresia and tracheoesophageal fistula in children. (8374655)
1993
50
Esophageal Atresia/Tracheoesophageal Fistula Overview (20301753)
1993

Variations for Tracheoesophageal Fistula

About this section

Expression for genes affiliated with Tracheoesophageal Fistula

About this section

Search GEO for disease gene expression data for Tracheoesophageal Fistula.

Pathways for genes affiliated with Tracheoesophageal Fistula

About this section

Pathways related to Tracheoesophageal Fistula according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NOG, SOX2
29.7GLI3, SHH
3
Show member pathways
9.7GLI3, SHH
49.1GLI3, PTEN, SHH

Compounds for genes affiliated with Tracheoesophageal Fistula

About this section

Compounds related to Tracheoesophageal Fistula according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine45 6110.9NOG, SHH
2cycloheximide459.3NOG, MYCN, PTEN
3cisplatin45 51 61 1312.1PTEN, MYCN, FANCA
4retinoic acid45 269.9NOG, MYCN, SOX2, PTEN
5leucine458.9FANCA, MYCN, PTEN

GO Terms for genes affiliated with Tracheoesophageal Fistula

About this section

Cellular components related to Tracheoesophageal Fistula according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.1GLI3, LPP, FANCA, CHD7, MYCN, SOX2

Biological processes related to Tracheoesophageal Fistula according to GeneCards/GeneDecks:

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1somite developmentGO:006105310.3SHH, NOG
2negative regulation of astrocyte differentiationGO:004871210.2NOG, MYCN
3embryonic skeletal system developmentGO:004870610.2NOG, SHH
4branching morphogenesis of an epithelial tubeGO:004875410.2MYCN, SHH
5neuron fate commitmentGO:004866310.2SHH, SOX2
6dorsal/ventral pattern formationGO:000995310.1SHH, NOG
7pituitary gland developmentGO:002198310.1SOX2, NOG
8limb developmentGO:006017310.1NOG, CHD7
9negative regulation of alpha-beta T cell differentiationGO:004663910.1GLI3, SHH
10hindgut morphogenesisGO:000744210.1GLI3, SHH
11embryonic hindlimb morphogenesisGO:003511610.1SHH, CHD7
12negative regulation of osteoblast differentiationGO:004566810.1NOG, SOX2
13artery developmentGO:006084010.1SHH, GLI3
14inner ear developmentGO:004883910.1SOX2, SHH
15positive regulation of alpha-beta T cell differentiationGO:004663810.1SHH, GLI3
16somatic stem cell maintenanceGO:003501910.1NOG, SOX2
17negative thymic T cell selectionGO:004506010.1SHH, GLI3
18positive regulation of protein import into nucleusGO:004230710.0GLI3, SHH
19embryonic digestive tract morphogenesisGO:004855710.0GLI3, SHH
20tongue developmentGO:004358610.0GLI3, SOX2
21metanephros developmentGO:000165610.0GLI3, SHH
22T cell differentiation in thymusGO:003307710.0GLI3, SHH
23forebrain developmentGO:003090010.0SHH, SOX2
24osteoblast differentiationGO:00016499.9NOG, SOX2
25embryonic skeletal system morphogenesisGO:00487049.9GLI3, MYCN
26branching involved in ureteric bud morphogenesisGO:00016589.9GLI3, SHH
27smoothened signaling pathwayGO:00072249.8GLI3, SHH
28negative regulation of neuron differentiationGO:00456659.8SOX2, GLI3
29negative regulation of epithelial cell proliferationGO:00506809.8SOX2, PTEN
30negative regulation of cell migrationGO:00303369.8SHH, PTEN, NOG
31inner ear morphogenesisGO:00424729.8CHD7, SOX2
32lung developmentGO:00303249.7GLI3, MYCN, SHH
33positive regulation of neuroblast proliferationGO:00020529.7GLI3, SOX2, SHH
34palate developmentGO:00600219.7GLI3, CHD7, SHH
35central nervous system developmentGO:00074179.7CHD7, PTEN, SHH
36odontogenesis of dentin-containing toothGO:00424759.7GLI3, SHH
37in utero embryonic developmentGO:00017019.6NOG, GLI3, CHD7
38wound healingGO:00420609.5GLI3, NOG
39heart developmentGO:00075079.5SHH, PTEN, GLI3
40male genitalia developmentGO:00305399.4HOXD13, SHH, SOX2
41negative regulation of canonical Wnt signaling pathwayGO:00900909.4SHH, SOX2, GLI3, NOG
42canonical Wnt signaling pathwayGO:00600709.4PTEN, SHH
43negative regulation of transcription from RNA polymerase II promoterGO:00001229.3NOG, GLI3, SOX2, SHH
44skeletal system developmentGO:00015019.3NOG, CHD7, HOXD13
45regulation of cell proliferationGO:00421279.3FANCA, SHH, HOXD13
46positive regulation of transcription, DNA-templatedGO:00458939.3GLI3, SOX2, SHH
47anterior/posterior pattern specificationGO:00099529.3GLI3, SHH, HOXD13
48embryonic digit morphogenesisGO:00427338.6NOG, GLI3, MYCN, SHH, HOXD13
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.2HOXD13, SHH, SOX2, MYCN, GLI3, NOG

Molecular functions related to Tracheoesophageal Fistula according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037008.4HOXD13, SOX2, MYCN, GLI3
2chromatin bindingGO:00036828.0HOXD13, SOX2, CHD7, GLI3
3protein bindingGO:00055156.5SHH, PTEN, SOX2, MYCN, CHD7, FANCA

Products for genes affiliated with Tracheoesophageal Fistula

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Tracheoesophageal Fistula

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet