MCID: ESP020
MIFTS: 54

Esophageal Atresia malady

Fetal category

Summaries for Esophageal Atresia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Esophageal atresia (or Oesophageal atresia) is a congenital medical condition (birth defect) which... more...

MalaCards: Esophageal Atresia, also known as congenital imperforate esophagus, is related to tracheoesophageal fistula and vacterl association. An important gene associated with Esophageal Atresia is SHH (sonic hedgehog), and among its related pathways is Hedgehog Signaling Pathway. The compound cyclopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are limbs/digits/tail and taste/olfaction.

Description from OMIM:47 189960

Aliases & Classifications for Esophageal Atresia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


Characteristics (Orphanet epidemiological data):

49
esophageal atresia:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

esophageal atresia 8 43 10 45 49 47 61
congenital imperforate esophagus 8
congenital atresia of esophagus 8
imperforate esophagus 8
oesophageal atresia 8


External Ids:

Disease Ontology8 DOID:10485
NCIt40 C87072
MeSH35 D004933
OMIM47 189960
MESH via Orphanet36 D004933
ICD10 via Orphanet26 Q39.0, Q39.1
SNOMED-CT via Orphanet58 204656005, 26179002
UMLS via Orphanet62 C0014850

Related Diseases for Esophageal Atresia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 132)
idRelated DiseaseScoreTop Affiliating Genes
1tracheoesophageal fistula31.6NOG
2vacterl association30.7FOXF1, LPP, MTHFSD, SHH, HOXD3, HOXA3
3imperforate anus30.5TEF, GLI3
4tracheal stenosis30.3TBX4, TEF
5coloboma30.0CHD7, SOX2
6clubfoot30.0GLI3, TBX4
7synostosis30.0SHH, GLI3, NOG
8pallister-hall syndrome30.0GLI3, SHH
9esophageal atresia/tracheoesophageal fistula11.1
10congenital diaphragmatic hernia10.6
11anal fistula10.5
12duodenal atresia10.4
13microphthalmia10.4
14sox2 anophthalmia syndrome10.3
15hypertrophic pyloric stenosis10.3
16micro syndrome10.3
17anophthalmia esophageal atresia cryptorchidism10.3
18lung agenesis10.3
19renal agenesis10.2
20digeorge syndrome10.2
21eosinophilic esophagitis10.2
22situs inversus10.2
23anophthalmia/microphthalmia10.2
24charge syndrome10.2
25esophageal duplication cyst10.2
26congenital hypothyroidism10.1
27achalasia10.1
28microcephaly10.1
29barrett's esophagus10.1
30char syndrome10.1
31anorectal atresia10.1
32laryngeal cleft10.1
33feingold syndrome10.1
34colonic atresia10.1
35tricuspid atresia10.1
36esophageal atresia coloboma talipes10.1
37anophthalmia-esophageal atresia-genital abnormalities syndrome10.1
38dysautonomia10.1
39epidermolysis bullosa dystrophica, ar10.1
40pulmonary function10.1
41omphalocele10.1
42renal dysplasia10.1
43cleft palate10.1
44spina bifida10.1
45aberrant subclavian artery10.1
46stroke, ischemic10.0
47goldenhar syndrome10.0
48williams-beuren syndrome10.0
49biliary atresia10.0
50cryptorchidism10.0

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



Diseases related to esophageal atresia

Clinical Features for Esophageal Atresia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

189960

Clinical synopsis from OMIM:

189960

Drugs & Therapeutics for Esophageal Atresia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Esophageal Atresia

Drug clinical trials:

Search ClinicalTrials for Esophageal Atresia

Search NIH Clinical Center for Esophageal Atresia

Search CenterWatch for Esophageal Atresia

Genetic Tests for Esophageal Atresia

Anatomical Context for Esophageal Atresia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Esophageal Atresia:

33
Brain, Spinal cord, Heart, Smooth muscle, Colon, Kidney, Liver, Lung, Pancreas, Thyroid, T cells, B cells, Fetal brain, Fetal liver, Fetal lung, Trachea, Fetal thyroid

Animal Models for Esophageal Atresia or affiliated genes

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

MGI Mouse Phenotypes related to Esophageal Atresia:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.2CHD7, GLI3, NOG
2MP:000539410.1NOG, GLI3, SHH, SOX2
3MP:000539110.1NOG, CHD7, FANCA, SOX2
4MP:00053779.9SOX2, SHH, CHD7, GLI3, NOG
5MP:00053699.5SHH, MYCN, HOXA3, HOXC4, NOG, SOX2
6MP:00053899.4SOX2, FANCA, GAL, LPP, SHH, CHD7
7MP:00053819.3SOX2, FOXF1, SHH, CHD7, MYCN, GLI3
8MP:00028739.3SOX2, SHH, TBX4, MYCN, HOXB3, SIX2
9MP:00053829.2SOX2, FANCA, SHH, CHD7, MYCN, GLI3
10MP:00053889.2CHD7, SHH, FOXF1, SOX2, MYCN, GLI3
11MP:00053799.1SOX2, FANCA, GAL, SHH, CHD7, GLI3
12MP:00053979.1FANCA, SHH, CHD7, MYCN, HOXD3, HOXA3
13MP:00053769.1SHH, LPP, GAL, SOX2, TBX4, CHD7
14MP:00053859.0TBX4, SHH, FANCA, FOXF1, CHD7, MYCN
15MP:00053808.9SOX2, FOXF1, FANCA, SHH, TBX4, CHD7
16MP:00053788.8SOX2, FANCA, GAL, SHH, CHD7, MYCN
17MP:00053908.8NOG, SOX2, FANCA, SHH, TBX4, CHD7
18MP:00053848.7SHH, LPP, GAL, FANCA, SOX2, TBX4
19MP:00036318.5CHD7, TBX4, SHH, GAL, SOX2, MYCN
20MP:00107688.1CHD7, TBX4, SHH, LPP, FANCA, FOXF1

Publications for Esophageal Atresia

Sources:
51PubMed
See all sources

Articles related to Esophageal Atresia:

(show top 50)    (show all 600)
idTitleAuthorsYear
1
Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: a methamizole embryopathy? (23845657)
2013
2
Barrett esophagus and esophagojejunal anastomotic stenosis as complications of esophagogastric disconnection in children with esophageal atresia. (23535759)
2013
3
Congenital diaphragmatic hernia associated with esophageal atresia: incidence, outcomes, and determinants of mortality. (23177372)
2013
4
Delayed primary reconstruction of esophageal atresia and distal tracheoesophageal fistula in a 471-g infant. (23276758)
2013
5
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum. (24307608)
2013
6
Type-A long-gap esophageal atresia treated by thoracoscopic esophagoesophagostomy after sequential extrathoracic esophageal elongation (Kimura's technique). (23996146)
2013
7
Refractory strictures post-esophageal atresia repair: what are the alternatives? (23679028)
2013
8
A simple technique of oblique anastomosis can prevent stricture formation in primary repair of esophageal atresia. (22974622)
2012
9
Aspects of esophageal atresia in a population-based setting: incidence, mortality, and cancer risk. (22020495)
2012
10
Functional gastrointestinal disorders induced by esophageal atresia surgery: is it valid in humans? (23106001)
2012
11
Prevalence of esophageal atresia among 18 international birth defects surveillance programs. (22945024)
2012
12
Role of preoperative 3D CT reconstruction for evaluation of patients with esophageal atresia and tracheoesophageal fistula. (22722826)
2012
13
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? (20954108)
2011
14
Perioperative outcome of patients with esophageal atresia and tracheo-esophageal fistula undergoing open versus thoracoscopic surgery. (21486154)
2011
15
Pulmonary outcome of esophageal atresia. (21499043)
2011
16
The outcome of conservative treatment for anastomotic leakage after surgical repair of esophageal atresia. (22152864)
2011
17
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. (20221592)
2010
18
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. (19822228)
2010
19
Asymmetric sweating and flushing in infants with esophageal atresia. (19524714)
2009
20
Gastric tube-pericardial fistula: a remote complication of esophageal replacement for long gap esophageal atresia. (19573675)
2009
21
Urinary tract and other associated anomalies in newborns with esophageal atresia. (19472132)
2009
22
Colonic replacement in cases of esophageal atresia. (19103421)
2009
23
Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study. (18172903)
2008
24
Esophageal atresia and tracheoesophageal fistula with distal esophageal stenosis: preoperative diagnosis. (18485973)
2008
25
Intrinsic esophageal innervation in esophageal atresia without fistula. (17962964)
2008
26
Does esophageal atresia influence the mother-infant interaction? (18926210)
2008
27
MCRA of an anastomotic stenosis after esophagoesophagostomy for long gap esophageal atresia: a case report. (17502180)
2007
28
Results of the operative treatment of gastroesophageal reflux in childhood with particular focus on patients with esophageal atresia. (17638154)
2007
29
Pure esophageal atresia with normal outer appearance: case report. (17706479)
2007
30
Thoracoscopic repair of a type D esophageal atresia in a newborn with complex congenital heart disease. (17848260)
2007
31
Primary repair in esophageal atresia. The results of long term follow-up. (16541002)
2006
32
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. (16892407)
2006
33
Prenatal diagnosis of horseshoe lung and esophageal atresia. (16767398)
2006
34
Babies with esophageal and duodenal atresia: a 30-year review of a multifaceted problem. (16516629)
2006
35
Reflux in esophageal atresia, tracheoesophageal cleft, and esophagocoloplasty: Bianchi's procedure as an alternative approach. (15852275)
2005
36
Gaseous distention of the hypopharynx and cervical esophagus with nasal CPAP: a mimicker of pharyngeal perforation and esophageal atresia. (16096824)
2005
37
Temporary transgastric fistula occlusion as salvage procedure in neonates with esophageal atresia with wide distal fistula and moderate to severe pneumonia. (15937658)
2005
38
Unusually delayed presentation of esophageal atresia. (15205896)
2004
39
Lengthening technique for long gap esophageal atresia and early anastomosis. (12720183)
2003
40
Delayed blind-pouch apposition, guide wire placement, and nonoperative establishment of luminal continuity in a child with long gap esophageal atresia. (12778390)
2003
41
Esophageal atresia and tracheoesophageal fistula: the impact of prenatal suspicion on neonatal outcome in a tertiary care center. (12747226)
2003
42
The elongation of distal esophageal pouch by mechanical bougienage for a year resulted in a tension-free anastomosis in a patient with long gap esophageal atresia: a case report. (14768476)
2003
43
A technique to facilitate nursing care in patients with long-gap esophageal atresia. (12598982)
2002
44
Diagnosing tracheoesophageal fistula without esophageal atresia. (8775485)
1996
45
Simple technique for proximal pouch mobilization and circular myotomy in cases of esophageal atresia with tracheoesophageal fistula. (7807338)
1994
46
Survival following gastrointestinal perforation from esophageal atresia and tracheoesophageal fistula. (8301521)
1993
47
Combined esophageal and duodenal atresia: sonographic findings. (6600333)
1983
48
Sonography of combined esophageal and duodenal atresia. (6632063)
1983
49
Combined esophageal and duodenal atresia: experience of 18 patients. (7229841)
1981
50
Lower esophageal sphincter dysfunction in esophageal atresia: nocturnal regurgitation and aspiration pneumonia. (592067)
1977

Genetic Variations for Esophageal Atresia

Expression for genes affiliated with Esophageal Atresia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 60Tocris Bioscience
See all sources

Pathways related to Esophageal Atresia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2GLI3, SHH

Compounds for genes affiliated with Esophageal Atresia

Sources:
45Novoseek, 60Tocris Bioscience
See all sources

Compounds related to Esophageal Atresia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine45 6011.2NOG, SHH

GO Terms for genes affiliated with Esophageal Atresia

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.7TEF, FOXF1, FANCA, LPP, SHH, TBX4

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of alpha-beta T cell differentiationGO:04663910.6GLI3, SHH
2hindgut morphogenesisGO:00744210.6GLI3, SHH
3lung lobe morphogenesisGO:06046310.6FOXF1, SHH
4somite developmentGO:06105310.6SHH, NOG
5artery developmentGO:06084010.5GLI3, SHH
6tongue developmentGO:04358610.5GLI3, SOX2
7positive regulation of alpha-beta T cell differentiationGO:04663810.5GLI3, SHH
8organ formationGO:04864510.5SHH, HOXA3
9renal system developmentGO:07200110.5SHH, FOXF1
10embryonic foregut morphogenesisGO:04861710.5FOXF1, SHH
11negative thymic T cell selectionGO:04506010.5SHH, GLI3
12positive regulation of neuroblast proliferationGO:00205210.5GLI3, SHH, SOX2
13limb developmentGO:06017310.5CHD7, NOG
14embryonic digit morphogenesisGO:04273310.5SHH, GLI3, NOG
15epithelial tube branching involved in lung morphogenesisGO:06044110.4SOX2, FOXF1
16positive regulation of protein import into nucleusGO:04230710.4SHH, GLI3
17smoothened signaling pathwayGO:00722410.4GLI3, SHH, FOXF1
18neuron fate commitmentGO:04866310.4SOX2, SHH
19face developmentGO:06032410.4CHD7, HOXB3
20palate developmentGO:06002110.4SHH, CHD7, GLI3
21limb morphogenesisGO:03510810.4TBX4, GLI3
22embryonic digestive tract morphogenesisGO:04855710.3FOXF1, GLI3
23negative regulation of canonical Wnt receptor signaling pathwayGO:09009010.3SOX2, SHH, GLI3, NOG
24pancreas developmentGO:03101610.3FOXF1, SHH
25male genitalia developmentGO:03053910.3SOX2, SHH
26lung developmentGO:03032410.3GLI3, TBX4, SHH, FOXF1
27in utero embryonic developmentGO:00170110.3NOG, GLI3, CHD7, FOXF1
28middle ear morphogenesisGO:04247410.2NOG, SIX2
29glossopharyngeal nerve morphogenesisGO:02161510.2HOXB3, HOXA3, HOXD3
30T cell differentiation in thymusGO:03307710.2GLI3, SHH
31thyroid gland developmentGO:03087810.1SHH, HOXD3, HOXA3, HOXB3
32pituitary gland developmentGO:02198310.1NOG, SOX2
33embryonic skeletal system morphogenesisGO:04870410.1GLI3, HOXD3, HOXA3, HOXB3
34heart developmentGO:00750710.0FOXF1, SHH, GLI3
35negative regulation of transcription from RNA polymerase II promoterGO:0001229.9SOX2, FOXF1, SHH, GLI3, HOXB3, NOG
36embryonic skeletal system developmentGO:0487069.9NOG, SHH
37cartilage developmentGO:0512169.9HOXD3, HOXA3, HOXC4, HOXB3, NOG
38positive regulation of transcription from RNA polymerase II promoterGO:0459449.8SOX2, FOXF1, SHH, GLI3, SIX2, NOG
39anterior/posterior pattern specificationGO:0099529.7HOXB3, HOXC4, HOXA3, HOXD3, GLI3, SHH
40transcription, DNA-dependentGO:0063519.3TBX4, CHD7, GLI3, HOXD3, HOXA3, HOXC4

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

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:07183710.0HOXC4, HOXA3
2sequence-specific DNA bindingGO:0435658.7SOX2, FOXF1, GLI3, HOXD3, HOXA3, HOXC4
3sequence-specific DNA binding transcription factor activityGO:0037008.5TEF, SOX2, TBX4, MYCN, GLI3, HOXD3

Products for genes affiliated with Esophageal Atresia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Esophageal Atresia

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