MCID: ESP020
MIFTS: 57

Esophageal Atresia malady

Rare diseases, Fetal diseases, Gastrointestinal diseases categories
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Summaries for Esophageal Atresia

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Wikipedia:65 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, and has symptoms including 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, heart and colon, and related mouse phenotypes are taste/olfaction and tumorigenesis.

Description from OMIM:46 189960

Aliases & Classifications for Esophageal Atresia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Esophageal Atresia, Aliases & Descriptions:

Name: Esophageal Atresia 8 42 10 44 48 46 62
Congenital Imperforate Esophagus 8 62
Congenital Atresia of Esophagus 8 62
 
Imperforate Esophagus 8 62
Oesophageal Atresia 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

48
esophageal atresia:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:10485
NCIt39 C87072
MeSH34 D004933
UMLS via Orphanet63 C0014850
OMIM46 189960
MESH via Orphanet35 D004933
ICD10 via Orphanet26 Q39.0, Q39.1

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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Symptoms by clinical synopsis from OMIM:

189960

Clinical features from OMIM:

189960

HPO human phenotypes related to Esophageal Atresia:

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

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:

32
Lung, Heart, Colon, 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:

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

Publications for Esophageal Atresia

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Articles related to Esophageal Atresia:

(show top 50)    (show all 597)
idTitleAuthorsYear
1
Physiological Studies at 7 Years of Age in Children Born with Esophageal Atresia. (25302538)
2014
2
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
3
The diagnosis of fetal esophageal atresia and its implications on perinatal outcome. (25056797)
2014
4
Prophylactic effect of H2 blocker for anastomotic strictures after esophageal atresia repair. (25348113)
2014
5
Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methamizole embryopathy? (23845657)
2013
6
Long-gap esophageal atresia: traction-growth and anastomosis - before and beyond. (23679026)
2013
7
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
8
Operative intercostal chest drain is not required following extrapleural or transpleural esophageal atresia repair. (23172565)
2013
9
Minimally invasive repair of esophageal atresia: an update. (23720207)
2013
10
A case series study of therapeutic implications of type IIIb4: a rare variant of esophageal atresia and distal tracheoesophageal fistula. (23895955)
2013
11
Mortality in esophageal atresia: Assessment of probable risk factors (10 years' experience). (23626630)
2012
12
A simple technique of oblique anastomosis can prevent stricture formation in primary repair of esophageal atresia. (22974622)
2012
13
Comparison of neonatal tolerance to thoracoscopic and open repair of esophageal atresia with tracheoesophageal fistula. (23044311)
2012
14
Re: Novel use of glycopyrrolate (Robinul) in the treatment of anastomotic leak after repair of esophageal atresia and trachea-esophageal fistula. (23084219)
2012
15
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
16
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
17
Increased incidence of esophageal atresia in northwest Tuscany: years 1994-2007. (21487371)
2011
18
Complete vs partial fundoplication in children with esophageal atresia. (21616240)
2011
19
Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. (20112230)
2010
20
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. (20113643)
2010
21
Diagnosis of esophageal atresia with tracheoesophageal fistula: is there a need for gastrointestinal contrast? (20056230)
2010
22
Pulmonary squamous cell carcinoma associated with repaired congenital tracheoesophageal fistula and esophageal atresia. (20054858)
2010
23
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. (20006009)
2009
24
The right-sided aortic arch in children with esophageal atresia and tracheo-esophageal fistula: a repair through the right thoracotomy. (19308429)
2009
25
Thoracoscopic repair of congenital esophageal atresia in infants. (19243269)
2009
26
The pitfalls of endotracheal intubation beyond the fistula in babies with type C esophageal atresia. (19349003)
2009
27
Esophageal Atresia: Migration of the gastrostomy tube into the bronchus. (20011489)
2008
28
Longitudinal follow-up of bronchial inflammation, respiratory symptoms, and pulmonary function in adolescents after repair of esophageal atresia with tracheoesophageal fistula. (18534205)
2008
29
Long gap esophageal atresia and arterial circle of Willis variant leading to ischemic stroke during gastric transposition. (18437659)
2008
30
Respiratory and gastrointestinal symptoms in esophageal atresia. (19490655)
2008
31
MCRA of an anastomotic stenosis after esophagoesophagostomy for long gap esophageal atresia: a case report. (17502180)
2007
32
VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature. (17377826)
2007
33
Iatrogenic esophageal perforation that may sometimes masquerade as esophageal atresia. (15856590)
2005
34
Esophageal atresia with double tracheoesophageal fistula--a case report and review of the literature. (16254849)
2005
35
Reflux in esophageal atresia, tracheoesophageal cleft, and esophagocoloplasty: Bianchi's procedure as an alternative approach. (15852275)
2005
36
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (15487011)
2004
37
Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
2004
38
"Thoracic gastrostomy"--a new technique for feeding gastrostomy in wide-gap esophageal atresia and tracheo-esophageal fistula. (14551716)
2003
39
Lengthening technique for long gap esophageal atresia and early anastomosis. (12720183)
2003
40
The distal pouch in esophageal atresia -- to dissect or not to dissect, that is the question. (11967754)
2002
41
Esophageal atresia associated with tracheal stenosis and right lung agenesis: report of one case. (12632790)
2002
42
Wide-gap esophageal atresia. (11727069)
2001
43
Elective, postoperative ventilation in the management of esophageal atresia and tracheoesophageal fistula. (9099641)
1997
44
Abnormalities of neuropeptides and neural markers in the esophagus of fetal rats with adriamycin-induced esophageal atresia. (9349759)
1997
45
Coexisting left congenital diaphragmatic hernia and esophageal atresia with tracheoesophageal fistula: successful management in a premature neonate. (8811578)
1996
46
Simple technique for proximal pouch mobilization and circular myotomy in cases of esophageal atresia with tracheoesophageal fistula. (7807338)
1994
47
Esophageal atresia and tracheoesophageal fistula in children. (8374655)
1993
48
Maturational dysautonomia and facial anomalies associated with esophageal atresia: support for neural crest involvement. (8331506)
1993
49
Esophageal Atresia/Tracheoesophageal Fistula Overview (20301753)
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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Expression patterns in normal tissues for genes affiliated with Esophageal Atresia

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/GeneDecks:

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, 61Tocris Bioscience, 24HMDB
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Compounds related to Esophageal Atresia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine44 6110.5NOG, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.6FANCA, CHD7, MYCN, SOX2, SHH

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1somite developmentGO:06105310.0SHH, NOG
2embryonic skeletal system developmentGO:0487069.9NOG, SHH
3dorsal/ventral pattern formationGO:0099539.9NOG, SHH
4branching morphogenesis of an epithelial tubeGO:0487549.9MYCN, SHH
5negative regulation of astrocyte differentiationGO:0487129.9NOG, MYCN
6positive regulation of neuroblast proliferationGO:0020529.8SOX2, SHH
7neuron fate commitmentGO:0486639.8SOX2, SHH
8male genitalia developmentGO:0305399.8SOX2, SHH
9pituitary gland developmentGO:0219839.7SOX2, NOG
10negative regulation of cell migrationGO:0303369.7NOG, SHH
11inner ear developmentGO:0488399.7SOX2, SHH
12negative regulation of osteoblast differentiationGO:0456689.7SOX2, NOG
13forebrain developmentGO:0309009.7SHH, SOX2
14somatic stem cell maintenanceGO:0350199.7NOG, SOX2
15osteoblast differentiationGO:0016499.6NOG, SOX2
16lung developmentGO:0303249.6MYCN, SHH
17limb developmentGO:0601739.6CHD7, NOG
18embryonic hindlimb morphogenesisGO:0351169.5CHD7, SHH
19embryonic digit morphogenesisGO:0427339.5NOG, MYCN, SHH
20regulation of cell proliferationGO:0421279.4FANCA, SHH
21palate developmentGO:0600219.4CHD7, SHH
22negative regulation of canonical Wnt signaling pathwayGO:0900909.4NOG, SOX2, SHH
23central nervous system developmentGO:0074179.2SHH, CHD7
24inner ear morphogenesisGO:0424729.2CHD7, SOX2
25in utero embryonic developmentGO:0017019.2NOG, CHD7
26negative regulation of transcription from RNA polymerase II promoterGO:0001229.1SHH, SOX2, NOG
27skeletal system developmentGO:0015018.9NOG, CHD7
28positive regulation of transcription from RNA polymerase II promoterGO:0459448.8NOG, MYCN, SOX2, SHH

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.1NOG, FANCA, CHD7, MYCN, SOX2, SHH

Products for genes affiliated with Esophageal Atresia

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Sources for Esophageal Atresia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet