MCID: ESP020
MIFTS: 56

Esophageal Atresia malady

Fetal diseases category

Summaries for Esophageal Atresia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 vacterl association and imperforate anus. 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 lung, heart and colon, and related mouse phenotypes are limbs/digits/tail and taste/olfaction.

Description from OMIM:46 189960

Aliases & Classifications for Esophageal Atresia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

esophageal atresia 8 42 10 44 48 46 60
congenital imperforate esophagus 8
congenital atresia of esophagus 8
imperforate esophagus 8
oesophageal atresia 8


External Ids:

Disease Ontology8 DOID:10485
NCIt39 C87072
MeSH34 D004933
OMIM46 189960
MESH via Orphanet35 D004933
ICD10 via Orphanet26 Q39.0, Q39.1
SNOMED-CT via Orphanet57 204656005, 26179002
UMLS via Orphanet61 C0014850

Related Diseases for Esophageal Atresia

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17GeneCards, 18GeneDecks
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Diseases related to Esophageal Atresia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1vacterl association30.7FOXF1, LPP, MTHFSD, SHH, HOXD3, HOXA3
2imperforate anus30.5TEF, GLI3
3tracheal stenosis30.3TBX4, TEF
4tracheoesophageal fistula30.2NOG
5choanal atresia30.2CHD7
6coloboma29.9CHD7, SOX2
7clubfoot29.9GLI3, TBX4
8synostosis29.9SHH, GLI3, NOG
9pallister-hall syndrome29.9GLI3, SHH
10esophagitis11.4
11esophageal atresia/tracheoesophageal fistula10.6
12congenital diaphragmatic hernia10.6
13esophageal disease10.5
14duodenitis10.4
15microphthalmia10.4
16eosinophilic esophagitis10.3
17pharyngitis10.3
18hypertrophic pyloric stenosis10.3
19laryngitis10.3
20pyloric stenosis10.3
21renal agenesis10.2
22digeorge syndrome10.2
23situs inversus10.2
24esophageal cancer10.2
25charge syndrome10.2
26anophthalmia esophageal atresia cryptorchidism10.2
27sox2 anophthalmia syndrome10.2
28congenital hypothyroidism10.1
29cerebritis10.1
30microcephaly10.1
31cervicitis10.1
32pneumonia10.1
33anophthalmia/microphthalmia10.1
34esophageal atresia coloboma talipes10.1
35anophthalmia-esophageal atresia-genital abnormalities syndrome10.1
36epidermolysis bullosa dystrophica, ar10.1
37meckel's diverticulum10.0
38cleft lip10.0
39cleft palate10.0
40intestinal atresia10.0
41peritonitis10.0
42spina bifida10.0
43stroke, ischemic10.0
44goldenhar syndrome10.0
45urethritis10.0
46williams-beuren syndrome10.0
47biliary atresia10.0
48cryptorchidism10.0
49achalasia10.0
50antley-bixler syndrome10.0

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



Diseases related to esophageal atresia

Clinical Features for Esophageal Atresia

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46OMIM
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Clinical features from OMIM:

189960

Clinical synopsis from OMIM:

189960

Drugs & Therapeutics for Esophageal Atresia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Esophageal Atresia

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32MalaCards
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MalaCards organs/tissues related to Esophageal Atresia:

32
Lung, Heart, Colon, Trachea, Pancreas, Bone, Kidney, Brain, Thyroid, Smooth muscle, Liver

Animal Models for Esophageal Atresia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Esophageal Atresia:

36 (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

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50PubMed
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Articles related to Esophageal Atresia:

(show top 50)    (show all 600)
idTitleAuthorsYear
1
Surgical intervention for esophageal atresia in patients with trisomy 18. (24311518)
2014
2
Long-gap esophageal atresia: traction-growth and anastomosis - before and beyond. (23679026)
2013
3
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
4
Second conference on esophageal atresia. (23679021)
2013
5
Assessment of risk of bleeding from esophageal varices during management of biliary atresia in children. (23263589)
2013
6
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. (23879989)
2013
7
Esophageal lung diagnosed following the primary repair of esophageal atresia with tracheo-esophageal fistula in a neonate. (23900505)
2013
8
Preliminary investigation of the diagnosis of neonatal congenital esophageal atresia using high-resolution ultrasonography: a report of three cases. (23583123)
2013
9
Esophageal atresia: long-term morbidities in adolescence and adulthood. (23679035)
2013
10
Re: Novel use of glycopyrrolate (Robinul) in the treatment of anastomotic leak after repair of esophageal atresia and trachea-esophageal fistula. (23084219)
2012
11
Thoracoscopic repair of esophageal atresia and tracheo-esophageal fistula in neonates: evolution of a technique. (22044457)
2012
12
An analysis of early nonmortality outcome prediction in esophageal atresia. (22595565)
2012
13
Clinical characteristics and treatment of esophageal atresia: a single institutional experience. (22792533)
2012
14
Endoscopic surveillance and primary prophylaxis sclerotherapy of esophageal varices in biliary atresia. (22614114)
2012
15
Transient elastography for predicting esophageal/gastric varices in children with biliary atresia. (21501480)
2011
16
Dumping syndrome after esophageal atresia repair without antireflux surgery. (20385264)
2010
17
Bilateral otosclerosis in a child with esophageal atresia, protruding ears, hyperopia, clinodactyly, and broad thumbs: a unique clinical presentation. (20828497)
2010
18
Esophageal atresia: new guidelines in management. (20853572)
2010
19
Discordance in twins for esophageal atresia with tracheoesophageal fistula. (19205648)
2009
20
Temporary banding of a lower tracheoesophageal fistula in an infant with left congenital diaphragmatic hernia and esophageal atresia. (19224439)
2009
21
Esophageal atresia repair with thoracotomy: the Cincinnati contemporary experience. (19103416)
2009
22
Esophageal atresia surgery in the 21st century. (19103417)
2009
23
Respiratory and gastrointestinal symptoms in esophageal atresia. (19490655)
2008
24
Maternal tobacco smoking, obesity, and low socioeconomic status during early pregnancy in the etiology of esophageal atresia. (18926209)
2008
25
Stapled tapering coloplasty to manage colon interposition graft redundancy for long-gap esophageal atresia. (19040963)
2008
26
Efficacy of postoperative elective ventilatory support for leakage protection in primary anastomosis of congenital esophageal atresia. (16736216)
2006
27
Esophageal atresia. Lessons I have learned in a 40-year experience. (17011260)
2006
28
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
29
Esophageal atresia and severe respiratory failure--cuffed pediatric tracheal tubes as an additional therapeutic option? (15991161)
2005
30
A flexible approach to achieve a true primary repair for all infants with esophageal atresia. (15770584)
2005
31
Laparoscopic antireflux procedures in the management of gastroesophageal reflux following esophageal atresia repair. (15735491)
2005
32
Genetic players in esophageal atresia and tracheoesophageal fistula. (15917211)
2005
33
Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: anesthetic and intensive care management of a series of eight neonates. (15960636)
2005
34
Cameron Haight: pioneer in the treatment of esophageal atresia. (15890217)
2005
35
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. (15214011)
2004
36
Dynamic esophageal lengthening for long gap esophageal atresia: experience with two cases. (15547839)
2004
37
Very long gap esophageal atresia successfully treated by esophageal lengthening using external traction sutures. (15300549)
2004
38
"Thoracic gastrostomy"--a new technique for feeding gastrostomy in wide-gap esophageal atresia and tracheo-esophageal fistula. (14551716)
2003
39
A new variant of esophageal atresia with distal tracheo-antral fistula associated with congenital intrathoracic stomach and situs inversus. (12861598)
2003
40
Can 'long-gap' esophageal atresia be safely managed at home while awaiting anastomosis? (12720175)
2003
41
Preoperative tracheoscopy in neonates with esophageal atresia. (12456480)
2002
42
Collis-Nissen procedure in patients with esophageal atresia: long-term evaluation. (12205555)
2002
43
Successful treatment of tracheomalacia associated with esophageal atresia without a tracheoesophageal fistula by aortopexy: report of a case. (10211565)
1999
44
The frequency, significance, and management of a right aortic arch in association with esophageal atresia. (9914350)
1999
45
Abnormalities of neuropeptides and neural markers in the esophagus of fetal rats with adriamycin-induced esophageal atresia. (9349759)
1997
46
Aortic arch anomalies associated with long gap esophageal atresia and tracheoesophageal fistula. (9396531)
1997
47
Analysis of morbidity and mortality in 227 cases of esophageal atresia and/or tracheoesophageal fistula over two decades. (7748088)
1995
48
Invertogram in a baby with imperforate anus and esophageal atresia. (6601408)
1983
49
The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. (4681850)
1973
50
Chondroepithelial choristoma (tracheobronchial rest) of the esophagus associated with esophageal atresia. Report of an unusual case. (5009744)
1972

Genetic Variations for Esophageal Atresia

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Expression for genes affiliated with Esophageal Atresia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 59Tocris Bioscience
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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

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44Novoseek, 59Tocris Bioscience
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Compounds related to Esophageal Atresia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine44 5911.2NOG, SHH

GO Terms for genes affiliated with Esophageal Atresia

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16Gene Ontology
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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet