MCID: ESP020
MIFTS: 46

Esophageal Atresia malady

Rare diseases, Fetal diseases categories

Aliases & Classifications for Esophageal Atresia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 62UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Esophageal Atresia:

Name: Esophageal Atresia 8 42 10 44 48 61
Congenital Imperforate Esophagus 8
Congenital Atresia of Esophagus 8
 
Imperforate Esophagus 8
Oesophageal Atresia 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
esophageal atresia:
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Neonatal


External Ids:

Disease Ontology8 DOID:10485
NCIt39 C87072
MeSH33 D004933
Orphanet48 1199
UMLS via Orphanet62 C0014850
MESH via Orphanet34 D004933
ICD10 via Orphanet26 Q39.0, Q39.1

Summaries for Esophageal Atresia

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Wikipedia:64 Esophageal atresia (or Oesophageal atresia) is a congenital medical condition (birth defect) which... more...

MalaCards based summary: Esophageal Atresia, also known as congenital imperforate esophagus, is related to tracheoesophageal fistula and synostosis. An important gene associated with Esophageal Atresia is SHH (sonic hedgehog), and among its related pathways are Wnt / Hedgehog / Notch and Human Embryonic Stem Cell Pluripotency. The compounds cyclopamine and retinoid have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and heart, and related mouse phenotypes are taste/olfaction and tumorigenesis.

Related Diseases for Esophageal Atresia

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Graphical network of the top 20 diseases related to Esophageal Atresia:



Diseases related to esophageal atresia

Symptoms for Esophageal Atresia

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Drugs & Therapeutics for Esophageal Atresia

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Drug clinical trials:

Search ClinicalTrials for Esophageal Atresia

Search NIH Clinical Center for Esophageal Atresia

Genetic Tests for Esophageal Atresia

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Anatomical Context for Esophageal Atresia

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MalaCards organs/tissues related to Esophageal Atresia:

31
Lung, Colon, Heart, Trachea, Bone, Pancreas, Brain, Smooth muscle, Kidney

Animal Models for Esophageal Atresia or affiliated genes

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MGI Mouse Phenotypes related to Esophageal Atresia:

35 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.2NOG, SOX2, SHH
2MP:00020069.0SOX2, SHH, FANCA
3MP:00030128.9SOX2, MYCN, SHH
4MP:00053678.8SHH, MYCN, NOG
5MP:00053698.6NOG, SHH, SOX2, MYCN
6MP:00028738.6SHH, SOX2, NOG, MYCN
7MP:00053718.5CHD7, SHH, NOG, MYCN
8MP:00053778.4SHH, SOX2, CHD7, NOG
9MP:00053978.2CHD7, SHH, MYCN, FANCA
10MP:00053868.0SOX2, SHH, MYCN, CHD7
11MP:00053858.0NOG, FANCA, CHD7, MYCN, SHH
12MP:00053888.0SHH, CHD7, SOX2, MYCN, NOG
13MP:00053818.0SHH, NOG, CHD7, MYCN, SOX2
14MP:00053797.9CHD7, SHH, FANCA, NOG, SOX2
15MP:00036317.8SOX2, CHD7, NOG, MYCN, SHH
16MP:00053767.8NOG, SHH, MYCN, SOX2, CHD7
17MP:00053827.5SOX2, SHH, MYCN, CHD7, FANCA, NOG
18MP:00053917.5SHH, MYCN, CHD7, FANCA, NOG, SOX2
19MP:00053907.5CHD7, MYCN, NOG, FANCA, SHH, SOX2
20MP:00053807.5SHH, FANCA, NOG, MYCN, CHD7, SOX2
21MP:00053897.5FANCA, CHD7, MYCN, SOX2, SHH, NOG
22MP:00053847.5SHH, SOX2, MYCN, CHD7, FANCA, NOG
23MP:00053787.4CHD7, MYCN, SOX2, SHH, NOG, FANCA
24MP:00107687.4CHD7, NOG, FANCA, MYCN, SOX2, SHH

Publications for Esophageal Atresia

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Articles related to Esophageal Atresia:

(show top 50)    (show all 625)
idTitleAuthorsYear
1
A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula. (25783403)
2015
2
Physiological Studies at 7 Years of Age in Children Born with Esophageal Atresia. (25302538)
2014
3
Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: overcoming the learning curve. (25475795)
2014
4
Efficacy and histopathological esophageal wall damage of biodegradable esophageal stents for treatment of severe refractory esophageal anastomotic stricture in a child with long gap esophageal atresia. (25399341)
2014
5
The diagnosis of fetal esophageal atresia and its implications on perinatal outcome. (25056797)
2014
6
Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methamizole embryopathy? (23845657)
2013
7
Long-gap esophageal atresia: traction-growth and anastomosis - before and beyond. (23679026)
2013
8
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
9
Operative intercostal chest drain is not required following extrapleural or transpleural esophageal atresia repair. (23172565)
2013
10
Minimally invasive repair of esophageal atresia: an update. (23720207)
2013
11
A case series study of therapeutic implications of type IIIb4: a rare variant of esophageal atresia and distal tracheoesophageal fistula. (23895955)
2013
12
Mortality in esophageal atresia: Assessment of probable risk factors (10 years' experience). (23626630)
2012
13
A simple technique of oblique anastomosis can prevent stricture formation in primary repair of esophageal atresia. (22974622)
2012
14
Comparison of neonatal tolerance to thoracoscopic and open repair of esophageal atresia with tracheoesophageal fistula. (23044311)
2012
15
Re: Novel use of glycopyrrolate (Robinul) in the treatment of anastomotic leak after repair of esophageal atresia and trachea-esophageal fistula. (23084219)
2012
16
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
17
A pilot study of laparoscopic gastric pull-up by using the natural orifice translumenal endoscopic surgery technique: a novel procedure for treating long-gap esophageal atresia (type a). (21859341)
2011
18
Increased incidence of esophageal atresia in northwest Tuscany: years 1994-2007. (21487371)
2011
19
Complete vs partial fundoplication in children with esophageal atresia. (21616240)
2011
20
Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. (20112230)
2010
21
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. (20113643)
2010
22
Diagnosis of esophageal atresia with tracheoesophageal fistula: is there a need for gastrointestinal contrast? (20056230)
2010
23
Pulmonary squamous cell carcinoma associated with repaired congenital tracheoesophageal fistula and esophageal atresia. (20054858)
2010
24
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. (20006009)
2009
25
The right-sided aortic arch in children with esophageal atresia and tracheo-esophageal fistula: a repair through the right thoracotomy. (19308429)
2009
26
Thoracoscopic repair of congenital esophageal atresia in infants. (19243269)
2009
27
The pitfalls of endotracheal intubation beyond the fistula in babies with type C esophageal atresia. (19349003)
2009
28
Esophageal Atresia: Migration of the gastrostomy tube into the bronchus. (20011489)
2008
29
Longitudinal follow-up of bronchial inflammation, respiratory symptoms, and pulmonary function in adolescents after repair of esophageal atresia with tracheoesophageal fistula. (18534205)
2008
30
Long gap esophageal atresia and arterial circle of Willis variant leading to ischemic stroke during gastric transposition. (18437659)
2008
31
Respiratory and gastrointestinal symptoms in esophageal atresia. (19490655)
2008
32
MCRA of an anastomotic stenosis after esophagoesophagostomy for long gap esophageal atresia: a case report. (17502180)
2007
33
VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature. (17377826)
2007
34
Iatrogenic esophageal perforation that may sometimes masquerade as esophageal atresia. (15856590)
2005
35
Esophageal atresia with double tracheoesophageal fistula--a case report and review of the literature. (16254849)
2005
36
Reflux in esophageal atresia, tracheoesophageal cleft, and esophagocoloplasty: Bianchi's procedure as an alternative approach. (15852275)
2005
37
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (15487011)
2004
38
Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
2004
39
"Thoracic gastrostomy"--a new technique for feeding gastrostomy in wide-gap esophageal atresia and tracheo-esophageal fistula. (14551716)
2003
40
Lengthening technique for long gap esophageal atresia and early anastomosis. (12720183)
2003
41
The distal pouch in esophageal atresia -- to dissect or not to dissect, that is the question. (11967754)
2002
42
Esophageal atresia associated with tracheal stenosis and right lung agenesis: report of one case. (12632790)
2002
43
Wide-gap esophageal atresia. (11727069)
2001
44
Elective, postoperative ventilation in the management of esophageal atresia and tracheoesophageal fistula. (9099641)
1997
45
Abnormalities of neuropeptides and neural markers in the esophagus of fetal rats with adriamycin-induced esophageal atresia. (9349759)
1997
46
Coexisting left congenital diaphragmatic hernia and esophageal atresia with tracheoesophageal fistula: successful management in a premature neonate. (8811578)
1996
47
Simple technique for proximal pouch mobilization and circular myotomy in cases of esophageal atresia with tracheoesophageal fistula. (7807338)
1994
48
Esophageal atresia and tracheoesophageal fistula in children. (8374655)
1993
49
Maturational dysautonomia and facial anomalies associated with esophageal atresia: support for neural crest involvement. (8331506)
1993
50
Esophageal atresia, coloboma, and clubfoot in two unrelated infants. (6469248)
1984

Variations for Esophageal Atresia

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Expression for genes affiliated with Esophageal Atresia

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Search GEO for disease gene expression data for Esophageal Atresia.

Pathways for genes affiliated with Esophageal Atresia

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Pathways related to Esophageal Atresia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4SOX2, SHH
2
Show member pathways
9.4NOG, SOX2
39.4NOG, SOX2

Compounds for genes affiliated with Esophageal Atresia

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Sources:
44Novoseek, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Esophageal Atresia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cyclopamine44 6010.5NOG, SHH
2retinoid449.5NOG, MYCN
3retinoic acid44 249.6NOG, MYCN, SOX2

GO Terms for genes affiliated with Esophageal Atresia

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Cellular components related to Esophageal Atresia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056347.6FANCA, CHD7, MYCN, SOX2, SHH

Biological processes related to Esophageal Atresia according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1somite developmentGO:006105310.0SHH, NOG
2embryonic skeletal system developmentGO:00487069.9SHH, NOG
3dorsal/ventral pattern formationGO:00099539.9NOG, SHH
4branching morphogenesis of an epithelial tubeGO:00487549.9MYCN, SHH
5negative regulation of astrocyte differentiationGO:00487129.9NOG, MYCN
6neuron fate commitmentGO:00486639.8SHH, SOX2
7positive regulation of neuroblast proliferationGO:00020529.8SOX2, SHH
8male genitalia developmentGO:00305399.8SOX2, SHH
9pituitary gland developmentGO:00219839.7SOX2, NOG
10negative regulation of cell migrationGO:00303369.7SHH, NOG
11inner ear developmentGO:00488399.7SOX2, SHH
12negative regulation of osteoblast differentiationGO:00456689.7NOG, SOX2
13forebrain developmentGO:00309009.7SOX2, SHH
14somatic stem cell maintenanceGO:00350199.7NOG, SOX2
15osteoblast differentiationGO:00016499.6SOX2, NOG
16lung developmentGO:00303249.6SHH, MYCN
17limb developmentGO:00601739.6CHD7, NOG
18embryonic hindlimb morphogenesisGO:00351169.5CHD7, SHH
19embryonic digit morphogenesisGO:00427339.5NOG, SHH, MYCN
20regulation of cell proliferationGO:00421279.4FANCA, SHH
21palate developmentGO:00600219.4SHH, CHD7
22negative regulation of canonical Wnt signaling pathwayGO:00900909.4NOG, SOX2, SHH
23central nervous system developmentGO:00074179.2CHD7, SHH
24inner ear morphogenesisGO:00424729.2SOX2, CHD7
25in utero embryonic developmentGO:00017019.2CHD7, NOG
26negative regulation of transcription from RNA polymerase II promoterGO:00001229.1SHH, SOX2, NOG
27skeletal system developmentGO:00015018.9CHD7, NOG
28positive regulation of transcription from RNA polymerase II promoterGO:00459448.8SHH, MYCN, NOG, SOX2

Molecular functions related to Esophageal Atresia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055157.1NOG, FANCA, CHD7, MYCN, SOX2, SHH

Sources for Esophageal Atresia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet