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, Liver, Smooth muscle, Brain, Thyroid, Kidney

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
Structural and numerical changes of chromosome X in patients with esophageal atresia. (24398799)
2014
2
A case series study of therapeutic implications of type IIIb4: a rare variant of esophageal atresia and distal tracheoesophageal fistula. (23895955)
2013
3
Using the Pediatric Health Information System to study rare congenital pediatric surgical diseases: development of a cohort of esophageal atresia patients. (24074656)
2013
4
Postoperative appearances of esophageal atresia repair: retrospective study of 210 patients with review of literature - what the radiologist should know. (23117198)
2013
5
Epidemiology of esophageal atresia. (23679022)
2013
6
Esophageal atresia with double tracheoesophageal fistula. (23377222)
2013
7
Feeding difficulties in children with esophageal atresia: treatment by a multidisciplinary team. (23679033)
2013
8
Cluster of 4 cases of esophageal squamous cell cancer developing in adults with surgically corrected esophageal atresia--time for screening to start. (22498376)
2012
9
Associated congenital anomalies between neonates with short-gap and long-gap esophageal atresia: a comparative study. (21760750)
2011
10
Esophageal atresia with distal fistula and long overlapping upper esophageal pouch. (22008350)
2011
11
Primary gastric pull-up in pure esophageal atresia: technique, feasibility and outcome. A prospective observational study. (21258933)
2011
12
Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. (20112230)
2010
13
Diagnosis of esophageal atresia with tracheoesophageal fistula: is there a need for gastrointestinal contrast? (20056230)
2010
14
A rare association of congenital diaphragmatic hernia with lower esophageal atresia and perforation. (20706657)
2010
15
Laparoscopic Collis-Nissen for recurrent severe reflux in pediatric patients with esophageal atresia and recurrent hiatal hernia. (20809817)
2010
16
Assessment of the Analgesic Effects of Extrapleural Infusion of Ropivacaine in Neonates with Esophageal Atresia (EA) Repair. (24363744)
2010
17
Esophageal atresia concomitant with congenital hypothyroidism and phenylketonuria in a newborn. (20432825)
2010
18
Risk factors for short- and long-term morbidity in children with esophageal atresia. (20123142)
2010
19
Type D congenital esophageal atresia associated with omphalomesenteric duct remnant. (20958884)
2010
20
The pitfalls of endotracheal intubation beyond the fistula in babies with type C esophageal atresia. (19349003)
2009
21
Successful treatment of severe refractory anastomotic stricture in an infant after esophageal atresia repair by endoscopic balloon dilation combined with systemic administration of dexamethasone. (19430800)
2009
22
Associated malformations in patients with esophageal atresia. (19410022)
2009
23
Pharyngeal perforation masquerading as esophageal atresia. (19944236)
2009
24
Laparoscopic gastric pull-up for long gap esophageal atresia. (19021469)
2009
25
Coexisting congenital diaphragmatic hernia, esophageal atresia, and tracheoesophageal fistula: a case report and review of the literature. (18828268)
2008
26
Neonatal atrial fibrillation after surgical repair of tracheoesophageal fistula with esophageal atresia. (17926085)
2008
27
Staged esophageal lengthening with internal and subsequent external traction sutures leads to primary repair of an ultralong gap esophageal atresia with upper pouch tracheoesophagel fistula. (18558163)
2008
28
Combined esophageal multichannel intraluminal impedance and pH monitoring after repair of esophageal atresia. (18852636)
2008
29
Esophageal atresia with tracheoesophageal fistula in both members of monozygotic twins. (18704456)
2008
30
A longitudinal study of children treated with the most common form of esophageal atresia and tracheoesophageal fistula. (17848264)
2007
31
Prognosis of congenital tracheoesophageal fistula with esophageal atresia on the basis of gap length. (17579871)
2007
32
Impact of preoperative diagnosis of congenital heart disease on the treatment of esophageal atresia. (16317563)
2006
33
Esophageal atresia with tracheoesophageal fistula: ten years of experience in an institute. (16903645)
2006
34
Incidence of persistent left superior vena cava in esophageal atresia. (16516620)
2006
35
Comment on evaluation of neonates with esophageal atresia using chest CT scan. (16341731)
2006
36
Pure esophageal atresia with no gap and associated intra-abdominal calcification. (16673129)
2006
37
Esophageal atresia with double tracheoesophageal fistula--a case report and review of the literature. (16254849)
2005
38
Thoracoscopic repair of esophageal atresia and tracheo-esophageal fistula. (15770583)
2005
39
Proposal of a novel method to evaluate anastomotic tension in esophageal atresia with a distal tracheoesophageal fistula. (16177921)
2005
40
Infants with repaired esophageal atresia and distal tracheoesophageal fistula with severe respiratory distress: is it tracheomalacia, reflux, or both? (15991167)
2005
41
Extrapleural thoracoscopic repair of esophageal atresia with tracheoesophageal fistula. (15789240)
2005
42
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (15487011)
2004
43
Does postoperative pH monitoring predict complicated gastroesophageal reflux in patients with esophageal atresia? (15372290)
2004
44
A 2-year-old boy, born with polysplenia syndrome, esophageal atresia, and tracheoesophageal fistula (TEF). (15224683)
2004
45
Association of microphthalmia and esophageal atresia: description of a patient and review of the literature. (12749061)
2003
46
Esophageal atresia with distal tracheoesophageal fistula associated with situs inversus. (11666054)
2001
47
Combined pure esophageal atresia, duodenal atresia, biliary atresia, and pancreatic ductal atresia: prenatal diagnostic features and review of the literature. (10813340)
2000
48
Relationship between esophageal atresia with tracheoesophageal fistula and vertebral anomalies in mammalian embryos. (9473101)
1998
49
Oligohydramnios syndrome and esophageal atresia. (318681)
1977
50
Congenital atresia of the esophagus with tracheo-esophageal fistula, duodenal atresia, and other anomalies; a case report. (14915452)
1952

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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Sources:
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