MCID: TRC040
MIFTS: 48

Tracheoesophageal Fistula malady

Rare diseases category

Summaries for Tracheoesophageal Fistula

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66Wikipedia, 34MalaCards
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Wikipedia:66 A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula)... more...

MalaCards: Tracheoesophageal Fistula, also known as esophageal atresia with or without tracheoesophageal fistula, is related to esophageal atresia and vacterl association. 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

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44NIH Rare Diseases, 46Novoseek
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Classifications:

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


Aliases & Descriptions:

tracheoesophageal fistula 44 46
esophageal atresia with or without tracheoesophageal fistula 44
tracheoesophageal fistula with or without esophageal atresia 44


Related Diseases for Tracheoesophageal Fistula

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18GeneCards, 19GeneDecks
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Diseases related to Tracheoesophageal Fistula via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia31.9NOG, SHH
2vacterl association30.5HOXD13, SHH, LPP
3esophagitis11.2
4esophageal atresia/tracheoesophageal fistula10.7
5duodenitis10.5
6tracheal agenesis without tracheoesophageal fistula10.5
7laryngitis10.5
8tracheal stenosis10.5
9congenital diaphragmatic hernia10.5
10esophageal cancer10.5
11duodenal atresia10.5
12tracheal agenesis10.5
13cervicitis10.4
14imperforate anus10.3
15hypertrophic pyloric stenosis10.3
16lung cancer10.3
17pyloric stenosis10.3
18respiratory failure10.3
19thyroiditis10.3
20feingold syndrome10.3
21pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula10.3
22microcephaly10.3
23achalasia10.3
24aspiration pneumonia10.3
25congenital heart disease10.3
26dermatomyositis10.3
27pneumonia10.3
28congenital tracheal stenosis10.3
29laryngeal cleft10.3
30tracheoesophageal fistula symphalangism10.3
31tricuspid atresia10.3
32dysphagia10.3
33pulmonary function10.3
34hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome10.3
35right aortic arch10.3
36burns10.1
37rubella10.1
38urethritis10.1
39severe acute respiratory syndrome10.1
40rett syndrome10.1
41choanal atresia10.1
42dextrocardia10.1
43bronchiectasis10.1
44portal hypertension10.1
45neuronitis10.1
46barrett's esophagus10.1
47cleft lip10.1
48status asthmaticus10.1
49hypoplastic left heart syndrome10.1
50cleft palate10.1

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



Diseases related to tracheoesophageal fistula

Symptoms for Tracheoesophageal Fistula

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Drugs & Therapeutics for Tracheoesophageal Fistula

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Tracheoesophageal Fistula

Drug clinical trials:

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Search NIH Clinical Center for Tracheoesophageal Fistula

Search CenterWatch for Tracheoesophageal Fistula

Genetic Tests for Tracheoesophageal Fistula

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Anatomical Context for Tracheoesophageal Fistula

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34MalaCards
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MalaCards organs/tissues related to Tracheoesophageal Fistula:

34
Trachea, Lung, Bone, Heart, Colon, Thyroid, Testes, B cells, T cells, Skin, Pancreas, Kidney, Bone marrow

Animal Models for Tracheoesophageal Fistula or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Tracheoesophageal Fistula:

38 (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

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53PubMed
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Articles related to Tracheoesophageal Fistula:

(show top 50)    (show all 499)
idTitleAuthorsYear
1
Management of a congenital tracheoesophageal fistula in a young Spanish water dog. (24423070)
2014
2
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
3
A case series study of therapeutic implications of type IIIb4: a rare variant of esophageal atresia and distal tracheoesophageal fistula. (23895955)
2013
4
Video: argon plasma coagulator in a 2-month-old child with tracheoesophageal fistula. (22476825)
2012
5
Thoracoscopic treatment of congenital esophageal stenosis in combination with H-type tracheoesophageal fistula. (22901927)
2012
6
Comparison of neonatal tolerance to thoracoscopic and open repair of esophageal atresia with tracheoesophageal fistula. (23044311)
2012
7
Selective bilateral bronchial intubation for large, acquired tracheoesophageal fistula. (22474805)
2012
8
Congenital tracheoesophageal fistula. (22272674)
2012
9
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
10
Analysis of saliva pepsin level in patients with tracheoesophageal fistula and voice prosthesis complications. (23397763)
2012
11
Usefulness of dextranomer/hyaluronic acid copolymer in bronchoscopic treatment of recurrent tracheoesophageal fistula in children. (21782257)
2011
12
Choanal atresia associated with tracheoesophageal fistula: the spectrum of carbimazole embryopathy. (21807695)
2011
13
Tracheoesophageal fistula closed by chemoradiotherapy in lung cancer. (21769294)
2011
14
Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. (20112230)
2010
15
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. (20113643)
2010
16
Diagnosis of esophageal atresia with tracheoesophageal fistula: is there a need for gastrointestinal contrast? (20056230)
2010
17
Pulmonary squamous cell carcinoma associated with repaired congenital tracheoesophageal fistula and esophageal atresia. (20054858)
2010
18
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. (20006009)
2009
19
Congenital tracheoesophageal fistula in an elderly patient with thoracic empyema. (19908119)
2009
20
Sternohyoid muscle flap interposition in the treatment of an acquired tracheoesophageal fistula. (19260113)
2009
21
Longitudinal follow-up of bronchial inflammation, respiratory symptoms, and pulmonary function in adolescents after repair of esophageal atresia with tracheoesophageal fistula. (18534205)
2008
22
Eosinophilic esophagitis and intermediate esophagitis after tracheoesophageal fistula repair: a case series. (18485944)
2008
23
Severe stridor following the repair of H-type tracheoesophageal fistula in an 11 month infant. (19235526)
2008
24
Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula. (17848225)
2007
25
Treatment of tracheoesophageal fistula in a child by using an endoscopic suturing device. (17208241)
2007
26
An unknown second tracheoesophageal fistula: a rare cause of postoperative respiratory failure. (16618307)
2006
27
Anesthetic management of tracheoesophageal fistula repair in a newborn with hypoplastic left heart syndrome. (16677272)
2006
28
Faulty bone morphogenetic protein signaling in esophageal atresia with tracheoesophageal fistula. (16818050)
2006
29
Bone morphogenetic protein expression patterns in human esophageal atresia with tracheoesophageal fistula. (16315037)
2006
30
High-grade congenital esophageal stenosis owing to a membranous diaphragm with tracheoesophageal fistula. (16226967)
2005
31
Esophageal atresia with double tracheoesophageal fistula--a case report and review of the literature. (16254849)
2005
32
Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
2004
33
An endotracheal/tracheostomy tube technique for the emergency management of a midtracheal tracheoesophageal fistula. (12819001)
2003
34
Tracheoesophageal fistula caused by a self-expanding esophageal stent. (10215238)
1999
35
Simplifying the Waterston's stratification of infants with tracheoesophageal fistula. (10515532)
1999
36
Successful long-term endoscopic closure of a recurrent tracheoesophageal fistula with fibrin glue in a child. (10402124)
1999
37
Tracheoplasty in a large tracheoesophageal fistula. (10510014)
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

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Expression for genes affiliated with Tracheoesophageal Fistula

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tracheoesophageal Fistula

Search GEO for disease gene expression data for Tracheoesophageal Fistula.

Pathways for genes affiliated with Tracheoesophageal Fistula

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51PathCards, 39NCBI BioSystems Database, 62Tocris Bioscience, 31KEGG
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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

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46Novoseek, 62Tocris Bioscience, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Tracheoesophageal Fistula according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine46 6210.9NOG, SHH
2cycloheximide469.3NOG, MYCN, PTEN
3cisplatin46 52 62 1212.1PTEN, MYCN, FANCA
4retinoic acid46 259.9NOG, MYCN, SOX2, PTEN
5leucine468.9FANCA, MYCN, PTEN

GO Terms for genes affiliated with Tracheoesophageal Fistula

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17Gene Ontology
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Cellular components related to Tracheoesophageal Fistula according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056346.1GLI3, LPP, FANCA, CHD7, MYCN, SOX2

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1somite developmentGO:06105310.3SHH, NOG
2negative regulation of astrocyte differentiationGO:04871210.2NOG, MYCN
3embryonic skeletal system developmentGO:04870610.2NOG, SHH
4branching morphogenesis of an epithelial tubeGO:04875410.2MYCN, SHH
5neuron fate commitmentGO:04866310.2SHH, SOX2
6dorsal/ventral pattern formationGO:00995310.1SHH, NOG
7pituitary gland developmentGO:02198310.1SOX2, NOG
8limb developmentGO:06017310.1NOG, CHD7
9negative regulation of alpha-beta T cell differentiationGO:04663910.1GLI3, SHH
10hindgut morphogenesisGO:00744210.1GLI3, SHH
11embryonic hindlimb morphogenesisGO:03511610.1SHH, CHD7
12negative regulation of osteoblast differentiationGO:04566810.1NOG, SOX2
13artery developmentGO:06084010.1SHH, GLI3
14inner ear developmentGO:04883910.1SOX2, SHH
15positive regulation of alpha-beta T cell differentiationGO:04663810.1SHH, GLI3
16somatic stem cell maintenanceGO:03501910.1NOG, SOX2
17negative thymic T cell selectionGO:04506010.1SHH, GLI3
18positive regulation of protein import into nucleusGO:04230710.0GLI3, SHH
19embryonic digestive tract morphogenesisGO:04855710.0GLI3, SHH
20tongue developmentGO:04358610.0GLI3, SOX2
21metanephros developmentGO:00165610.0GLI3, SHH
22T cell differentiation in thymusGO:03307710.0GLI3, SHH
23forebrain developmentGO:03090010.0SHH, SOX2
24osteoblast differentiationGO:0016499.9NOG, SOX2
25embryonic skeletal system morphogenesisGO:0487049.9GLI3, MYCN
26branching involved in ureteric bud morphogenesisGO:0016589.9GLI3, SHH
27smoothened signaling pathwayGO:0072249.8GLI3, SHH
28negative regulation of neuron differentiationGO:0456659.8SOX2, GLI3
29negative regulation of epithelial cell proliferationGO:0506809.8SOX2, PTEN
30negative regulation of cell migrationGO:0303369.8SHH, PTEN, NOG
31inner ear morphogenesisGO:0424729.8CHD7, SOX2
32lung developmentGO:0303249.7GLI3, MYCN, SHH
33positive regulation of neuroblast proliferationGO:0020529.7GLI3, SOX2, SHH
34palate developmentGO:0600219.7GLI3, CHD7, SHH
35central nervous system developmentGO:0074179.7CHD7, PTEN, SHH
36odontogenesis of dentin-containing toothGO:0424759.7GLI3, SHH
37in utero embryonic developmentGO:0017019.6NOG, GLI3, CHD7
38wound healingGO:0420609.5GLI3, NOG
39heart developmentGO:0075079.5SHH, PTEN, GLI3
40male genitalia developmentGO:0305399.4HOXD13, SHH, SOX2
41negative regulation of canonical Wnt signaling pathwayGO:0900909.4SHH, SOX2, GLI3, NOG
42canonical Wnt signaling pathwayGO:0600709.4PTEN, SHH
43negative regulation of transcription from RNA polymerase II promoterGO:0001229.3NOG, GLI3, SOX2, SHH
44skeletal system developmentGO:0015019.3NOG, CHD7, HOXD13
45regulation of cell proliferationGO:0421279.3FANCA, SHH, HOXD13
46positive regulation of transcription, DNA-templatedGO:0458939.3GLI3, SOX2, SHH
47anterior/posterior pattern specificationGO:0099529.3GLI3, SHH, HOXD13
48embryonic digit morphogenesisGO:0427338.6NOG, GLI3, MYCN, SHH, HOXD13
49positive regulation of transcription from RNA polymerase II promoterGO:0459448.2HOXD13, 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:0037008.4GLI3, MYCN, SOX2, HOXD13
2chromatin bindingGO:0036828.0HOXD13, SOX2, CHD7, GLI3
3protein bindingGO:0055156.5NOG, SHH, PTEN, SOX2, MYCN, CHD7

Products for genes affiliated with Tracheoesophageal Fistula

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Sources for Tracheoesophageal Fistula

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet