EA1
MCID: ESP029
MIFTS: 35

Esophageal Atresia/tracheoesophageal Fistula (EA1) malady

Neuronal category

Summaries for Esophageal Atresia/tracheoesophageal Fistula

Sources:
21Genetics Home Reference, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Esophageal Atresia/tracheoesophageal Fistula, also known as esophageal atresia with tracheo-esophageal fistula, is related to tracheoesophageal fistula and esophageal atresia. An important gene associated with Esophageal Atresia/tracheoesophageal Fistula is MYCN (v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog), and among its related pathways is Cardiac Progenitor Differentiation. Affiliated tissues include lung, fetal lung and trachea, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

GeneReviews summary for tef-ov

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

Sources:
61UMLS, 19GeneReviews, 20GeneTests, 21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

esophageal atresia/tracheoesophageal fistula 19 20 21
esophageal atresia with tracheo-esophageal fistula 61
hereditary cerebellar ataxia with neuromyotonia 19
episodic ataxia with myokymia 19
episodic ataxia type 1 61
ea/tef 21
ea1 19


Related Diseases for Esophageal Atresia/tracheoesophageal Fistula

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1tracheoesophageal fistula31.2NOG
2esophageal atresia31.2NOG
3vacterl association30.5LPP
4episodic ataxia10.8
5ataxia10.8
6episodic ataxia type 110.6
7congenital diaphragmatic hernia10.5
8hypertrophic pyloric stenosis10.3
9episodic ataxia type 210.2
10erythropoietic protoporphyria, autosomal recessive10.2
11medulloblastoma10.0MYCN
12embryonal cancer10.0SOX2, MYCN
13craniosynostosis10.0NOG
14coloboma10.0CHD7, SOX2
15synostosis10.0GLI3, NOG
16syndactyly10.0GLI3, NOG

Graphical network of diseases related to Esophageal Atresia/tracheoesophageal Fistula:



Diseases related to esophageal atresia/tracheoesophageal fistula

Clinical Features for Esophageal Atresia/tracheoesophageal Fistula

Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Esophageal Atresia/tracheoesophageal Fistula

Drug clinical trials:

Search ClinicalTrials for Esophageal Atresia/tracheoesophageal Fistula

Search NIH Clinical Center for Esophageal Atresia/tracheoesophageal Fistula

Search CenterWatch for Esophageal Atresia/tracheoesophageal Fistula

Genetic Tests for Esophageal Atresia/tracheoesophageal Fistula

Sources:
20GeneTests
See all sources

Genetic tests related to Esophageal Atresia/tracheoesophageal Fistula:

id Genetic test Affiliating Genes
1 Esophageal Atresia/tracheoesophageal Fistula20

Anatomical Context for Esophageal Atresia/tracheoesophageal Fistula

Sources:
33MalaCards
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MalaCards organs/tissues related to Esophageal Atresia/tracheoesophageal Fistula:

33
Lung, Fetal lung, Trachea

Animal Models for Esophageal Atresia/tracheoesophageal Fistula or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Esophageal Atresia/tracheoesophageal Fistula

Sources:
51PubMed
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Articles related to Esophageal Atresia/tracheoesophageal Fistula:

(show top 50)    (show all 165)
idTitleAuthorsYear
1
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
2
Foregut duplication cyst associated with esophageal atresia and tracheoesophageal fistula: a case report and literature review. (23701808)
2013
3
Esophageal atresia with proximal tracheoesophageal fistula: a missed diagnosis. (23845651)
2013
4
Genetic and cellular mechanisms of the formation of esophageal atresia and tracheoesophageal fistula. (23679023)
2013
5
Role of preoperative 3D CT reconstruction for evaluation of patients with esophageal atresia and tracheoesophageal fistula. (22722826)
2012
6
Incidence, diagnosis, and outcomes of vocal fold immobility after esophageal atresia (EA) and/or tracheoesophageal fistula (TEF) repair. (22169990)
2011
7
Heterotopic gastric mucosa of the upper esophagus following repair of esophageal atresia with tracheoesophageal fistula. (21238630)
2011
8
Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. (20112230)
2010
9
Esophageal morbidity and function in adults with repaired esophageal atresia with tracheoesophageal fistula: a population-based long-term follow-up. (20485152)
2010
10
Diagnostic difficulties in esophageal atresia with proximal and distal tracheoesophageal fistula: a case report. (20402078)
2010
11
The role of prophylactic chest drainage in the operative management of esophageal atresia with tracheoesophageal fistula. (19290533)
2009
12
Temporary banding of a lower tracheoesophageal fistula in an infant with left congenital diaphragmatic hernia and esophageal atresia. (19224439)
2009
13
Modified method of primary esophageal anastomosis with improved outcome in cases of esophageal atresia with tracheoesophageal fistula. (19214535)
2009
14
Longitudinal follow-up of bronchial inflammation, respiratory symptoms, and pulmonary function in adolescents after repair of esophageal atresia with tracheoesophageal fistula. (18534205)
2008
15
Coexisting congenital diaphragmatic hernia, esophageal atresia, and tracheoesophageal fistula: a case report and review of the literature. (18828268)
2008
16
Neonatal atrial fibrillation after surgical repair of tracheoesophageal fistula with esophageal atresia. (17926085)
2008
17
A congenital proximal tracheoesophageal fistula 14 years after surgical repair of esophageal atresia with distal tracheoesophageal fistula. (18773681)
2008
18
Esophageal atresia and tracheoesophageal fistula with distal esophageal stenosis: preoperative diagnosis. (18485973)
2008
19
The use of biosynthetic mesh to separate the anastomoses during the thoracoscopic repair of esophageal atresia and tracheoesophageal fistula. (17570793)
2007
20
Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia, and duodenal atresia. (17560239)
2007
21
Esophageal replacement in the neonatal period in infants with esophageal atresia and tracheoesophageal fistula. (17848233)
2007
22
Reduced neuronal innervation in the distal end of the proximal esophageal atretic segment in cases of esophageal atresia with distal tracheoesophageal fistula. (17534555)
2007
23
The structural characteristics and expression of neuropeptides in the esophagus of patients with congenital esophageal atresia and tracheoesophageal fistula. (17706510)
2007
24
Esophageal atresia and tracheoesophageal fistula in children of women exposed to diethylstilbestrol in utero. (17618749)
2007
25
Bone morphogenetic protein expression patterns in human esophageal atresia with tracheoesophageal fistula. (16315037)
2006
26
Tracheoesophageal fistula without esophageal atresia: are pull-back tube esophagograms needed for diagnosis? (16967270)
2006
27
Thoracoscopic repair of esophageal atresia and tracheoesophageal fistula: lessons learned. (16646712)
2006
28
Delayed presentation of tracheomalacia in an infant with long-gap esophageal atresia and distal tracheoesophageal fistula and a right aortic arch. (17011296)
2006
29
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. (15933889)
2005
30
Proposal of a novel method to evaluate anastomotic tension in esophageal atresia with a distal tracheoesophageal fistula. (16177921)
2005
31
Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: anesthetic and intensive care management of a series of eight neonates. (15960636)
2005
32
Infants with repaired esophageal atresia and distal tracheoesophageal fistula with severe respiratory distress: is it tracheomalacia, reflux, or both? (15991167)
2005
33
Closure of a benign tracheoesophageal fistula by using a coated, self-expanding plastic stent in a patient with a history of esophageal atresia. (15855991)
2005
34
Long-term complications of congenital esophageal atresia and/or tracheoesophageal fistula. (15364774)
2004
35
Outcomes in esophageal atresia and tracheoesophageal fistula. (14666453)
2003
36
Long-term analysis of children with esophageal atresia and tracheoesophageal fistula. (12778380)
2003
37
One-lung ventilation of a preterm newborn during esophageal atresia and tracheoesophageal fistula repair. (11939927)
2002
38
Congenital bronchoesophageal fistula and tracheoesophageal fistula with esophageal atresia. (11802255)
2002
39
Azygos vein anomaly: the best predictor of a long gap in esophageal atresia and tracheoesophageal fistula. (11315263)
2001
40
Agenesis of right lung with esophageal atresia and distal tracheoesophageal fistula. (11533805)
2000
41
Revisiting the role of routine retropleural drainage after repair of esophageal atresia with distal tracheoesophageal fistula. (10442595)
1999
42
Esophageal atresia and tracheoesophageal fistula. (10068713)
1999
43
Esophageal atresia with tracheoesophageal fistula: suggested mechanism in faulty organogenesis. (10022173)
1999
44
Elective, postoperative ventilation in the management of esophageal atresia and tracheoesophageal fistula. (9099641)
1997
45
Primary reconstruction of esophageal atresia with distal tracheoesophageal fistula in a 740-g infant. (9349778)
1997
46
Tracheomalacia with esophageal atresia and tracheoesophageal fistula in fetal rats. (9396529)
1997
47
Coexisting left congenital diaphragmatic hernia and esophageal atresia with tracheoesophageal fistula: successful management in a premature neonate. (8811578)
1996
48
Analysis of morbidity and mortality in 227 cases of esophageal atresia and/or tracheoesophageal fistula over two decades. (7748088)
1995
49
Survival following gastrointestinal perforation from esophageal atresia and tracheoesophageal fistula. (8301521)
1993
50
Anesthesia for congenital esophageal atresia and tracheoesophageal fistula combine with dextrocardia--case report. (3695840)
1987

Genetic Variations for Esophageal Atresia/tracheoesophageal Fistula

Expression for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

Search GEO for disease gene expression data for Esophageal Atresia/tracheoesophageal Fistula.

Pathways for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

Sources:
38NCBI BioSystems Database
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Pathways related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NOG, SOX2

Compounds for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

GO Terms for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

Sources:
16Gene Ontology
See all sources

Cellular components related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.3GLI3, MYCN, CHD7, LPP, FANCA, SOX2

Biological processes related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1limb developmentGO:0601739.8NOG, CHD7
2pituitary gland developmentGO:0219839.8NOG, SOX2
3negative regulation of osteoblast differentiationGO:0456689.7SOX2, NOG
4tongue developmentGO:0435869.7GLI3, SOX2
5somatic stem cell maintenanceGO:0350199.7SOX2, NOG
6positive regulation of neuroblast proliferationGO:0020529.7SOX2, GLI3
7inner ear morphogenesisGO:0424729.6SOX2, CHD7
8osteoblast differentiationGO:0016499.6NOG, SOX2
9negative regulation of neuron differentiationGO:0456659.6GLI3, SOX2
10skeletal system developmentGO:0015019.5NOG, CHD7
11embryonic digit morphogenesisGO:0427339.5NOG, GLI3
12palate developmentGO:0600219.3GLI3, CHD7
13negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.2NOG, GLI3, SOX2
14in utero embryonic developmentGO:0017019.1NOG, GLI3, CHD7
15negative regulation of transcription from RNA polymerase II promoterGO:0001228.6NOG, GLI3, SOX2

Molecular functions related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.0GLI3, CHD7, SOX2
2protein bindingGO:0055156.4NOG, SOX2, FANCA, LPP, CHD7, MYCN

Products for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Esophageal Atresia/tracheoesophageal Fistula

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet