MCID: ESP020
MIFTS: 50

Esophageal Atresia malady

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Esophageal Atresia

Aliases & Descriptions for Esophageal Atresia:

Name: Esophageal Atresia 12 50 29 52 42 14 69
Congenital Imperforate Esophagus 12
Congenital Atresia of Esophagus 12
Imperforate Esophagus 12
Oesophageal Atresia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10485
ICD10 33 Q39.0
MeSH 42 D004933
NCIt 47 C87072
UMLS 69 C0014850

Summaries for Esophageal Atresia

MalaCards based summary : Esophageal Atresia, also known as congenital imperforate esophagus, is related to esophageal atresia/tracheoesophageal fistula and tracheoesophageal fistula with or without esophageal atresia. An important gene associated with Esophageal Atresia is SHH (Sonic Hedgehog), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Wnt / Hedgehog / Notch. The drugs Omeprazole and Proton pump inhibitors have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and heart, and related phenotypes are cellular and homeostasis/metabolism

Wikipedia : 71 Esophageal atresia (or Oesophageal atresia) is a congenital medical condition (birth defect) that... more...

Related Diseases for Esophageal Atresia

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

(show top 50) (show all 110)
id Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 12.4
2 tracheoesophageal fistula with or without esophageal atresia 12.0
3 anophthalmia-esophageal atresia-genital abnormalities syndrome 11.9
4 anophthalmia esophageal atresia cryptorchidism 11.9
5 esophageal atresia coloboma talipes 11.9
6 microphthalmia, syndromic 3 11.8
7 tracheoesophageal fistula 11.8
8 vater/vacterl association 11.4
9 esophagitis 11.0
10 fanconi anemia, complementation group b 10.9
11 arroyo garcia cimadevilla syndrome 10.9
12 anosmia, isolated congenital 10.2 GLI3 SHH
13 cloacal exstrophy 10.2 GLI3 LPP
14 congenital diaphragmatic hernia 10.2
15 gastroesophageal reflux 10.1
16 rhabdomyosarcoma, embryonal, 2 10.1 MYCN SHH
17 cornelia de lange syndrome 5 10.1 CHD7 SHH SOX2
18 tracheomalacia 10.1
19 pulmonary atresia with intact ventricular septum 10.1 CHD7 EFTUD2 SHH
20 thyroid dyshormonogenesis 3 10.1 CHD7 FOXF1
21 intellectual developmental disorder with persistence of fetal hemoglobin 10.1 GLI2 GLI3
22 aica-ribosiduria due to atic deficiency 10.1 GLI3 NOG
23 nodular goiter 10.1 GLI3 MYCN SOX2
24 t cell immunodeficiency primary 10.1 GLI3 NOG
25 duodenitis 10.1
26 polydactyly, preaxial, type iv 10.0 GLI2 GLI3
27 polydactyly, postaxial, types a1 and b 10.0 GLI2 GLI3 SHH
28 breasts and/or nipples, aplasia or hypoplasia of, 2 10.0 GLI2 GLI3 SHH
29 duodenal atresia 10.0
30 horner's syndrome 10.0 GLI2 GLI3 SHH
31 orchitis 10.0 GLI2 GLI3 SHH
32 hypertrophic pyloric stenosis 10.0
33 pyloric stenosis 10.0
34 right aortic arch 10.0
35 imperforate anus 10.0
36 microphthalmia 10.0
37 colorectal cancer, hereditary nonpolyposis, type 2 10.0 GLI2 SHH
38 tricho odonto onychodysplasia syndactyly dominant type 10.0 CHD7 GLI3 NOG SHH
39 malignant oculomotor nerve tumor 9.9 FOXF1 SHH
40 heart disease 9.9
41 pharyngitis 9.9
42 dysphagia 9.9
43 laryngitis 9.9
44 situs inversus 9.9
45 extragonadal germ cell cancer 9.9 GLI2 GLI3 MYCN SHH
46 lung agenesis 9.8
47 tracheal stenosis 9.8
48 digeorge syndrome 9.8
49 dysautonomia 9.7
50 cervicitis 9.7

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



Diseases related to Esophageal Atresia

Symptoms & Phenotypes for Esophageal Atresia

MGI Mouse Phenotypes related to Esophageal Atresia:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 CHD7 FANCB GAL GLI2 GLI3 LPP
2 homeostasis/metabolism MP:0005376 10.25 NOG SHH SOX2 CHD7 EFTUD2 FANCB
3 growth/size/body region MP:0005378 10.19 GAL GLI2 GLI3 MYCN NOG SHH
4 digestive/alimentary MP:0005381 10.17 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
5 embryo MP:0005380 10.16 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
6 mortality/aging MP:0010768 10.16 CHD7 EFTUD2 FOXF1 GLI2 GLI3 LPP
7 endocrine/exocrine gland MP:0005379 10.15 CHD7 FANCB GAL GLI2 GLI3 NOG
8 craniofacial MP:0005382 10.12 CHD7 GLI2 GLI3 MYCN NOG SHH
9 reproductive system MP:0005389 10.02 LPP MYCN NOG SHH SOX2 CHD7
10 nervous system MP:0003631 10.01 CHD7 GAL GLI2 GLI3 MYCN NOG
11 hearing/vestibular/ear MP:0005377 10 SOX2 CHD7 GLI2 GLI3 NOG SHH
12 muscle MP:0005369 9.98 CHD7 FOXF1 GLI2 MYCN NOG SHH
13 integument MP:0010771 9.97 GAL GLI2 GLI3 NOG SHH SOX2
14 limbs/digits/tail MP:0005371 9.95 GLI3 MYCN NOG SHH CHD7 GLI2
15 respiratory system MP:0005388 9.86 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
16 normal MP:0002873 9.85 GLI2 GLI3 MYCN NOG SHH SOX2
17 skeleton MP:0005390 9.7 SHH SOX2 CHD7 GLI2 GLI3 MYCN
18 taste/olfaction MP:0005394 9.26 GLI3 NOG SHH SOX2
19 vision/eye MP:0005391 9.17 CHD7 GLI2 GLI3 MYCN NOG SHH

Drugs & Therapeutics for Esophageal Atresia

Drugs for Esophageal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2
Proton pump inhibitors Phase 3
3 Gastrointestinal Agents Phase 3
4 Antacids Phase 3
5 Anti-Ulcer Agents Phase 3
6 Pharmaceutical Solutions Phase 2
7 Soybean oil, phospholipid emulsion Phase 2
8 Parenteral Nutrition Solutions Phase 2
9 Fat Emulsions, Intravenous Phase 2
10 Soy Bean Nutraceutical Phase 2
11 Omega 3 Fatty Acid Nutraceutical Phase 2
12
Nitric Oxide Approved 10102-43-9 145068
13
Ropivacaine Approved 84057-95-4 71273 175805
14 Trace Elements
15 Vitamins
16 Micronutrients
17 Anesthetics
18 Peripheral Nervous System Agents
19 Anesthetics, Local
20 Central Nervous System Depressants
21 lysine Nutraceutical

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants. Unknown status NCT00226044 Phase 3
2 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Not yet recruiting NCT03127345 Phase 2
3 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245
4 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
5 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
6 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
7 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
8 National Register of Oesophageal Atresia Recruiting NCT02883725
9 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705
10 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
11 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Enrolling by invitation NCT02033772
12 Individualized Management for Long Gap Esophageal Atresia Not yet recruiting NCT03023865
13 Blood Ropivacaine Concentrations Following Nerve Block in Infants and Toddlers Undergoing Esophageal Atresia Repair Not yet recruiting NCT02860091

Search NIH Clinical Center for Esophageal Atresia

Cochrane evidence based reviews: esophageal atresia

Genetic Tests for Esophageal Atresia

Genetic tests related to Esophageal Atresia:

id Genetic test Affiliating Genes
1 Esophageal Atresia 29

Anatomical Context for Esophageal Atresia

MalaCards organs/tissues related to Esophageal Atresia:

39
Lung, Colon, Heart, Trachea, Brain, Bone, Pancreas

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 717)
id Title Authors Year
1
Brain Oxygenation During Thoracoscopic Repair of Long Gap Esophageal Atresia. ( 28058473 )
2017
2
Thoracoscopic surgery for esophageal atresia. ( 28064362 )
2017
3
Risk Factors for Anastomotic Strictures after Esophageal Atresia Repair: Prophylactic Proton Pump Inhibitors Do Not Reduce the Incidence of Strictures. ( 27769086 )
2017
4
New Variant of Esophageal Atresia. ( 28083495 )
2017
5
Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. ( 28061520 )
2017
6
Dilations of anastomotic strictures over time after repair of esophageal atresia. ( 27844168 )
2017
7
Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients. ( 28061521 )
2017
8
Two-Stage Thoracoscopic Repair of Long-Gap Esophageal Atresia Using Internal Traction Is Safe and Feasible. ( 27792528 )
2017
9
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
10
Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns. ( 26931365 )
2016
11
Ulcerative Colitis in Colonic Interposition for Esophageal Atresia. ( 27847835 )
2016
12
A new approach for the management of esophageal atresia without tracheo-esophageal fistula. ( 27365910 )
2016
13
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene. ( 27614115 )
2016
14
Perioperative management and outcomes of esophageal atresia and tracheoesophageal fistula. ( 27993359 )
2016
15
Evaluation of the intraoperative risk factors for esophageal anastomotic complications after primary repair of esophageal atresia with tracheoesophageal fistula. ( 27461430 )
2016
16
Impaired VEGF Signaling in Lungs with Hypoplastic Esophageal Atresia and Effects on Branching Morphogenesis. ( 27372649 )
2016
17
An Unusual Case of Foreign Body Lodged in the Laryngopharynx of Neonate with Esophageal Atresia. ( 26793600 )
2016
18
Role of glycopyrrolate in healing of anastomotic dehiscence after primary repair of esophageal atresia in a low resource setting-A randomized controlled study. ( 27939204 )
2016
19
Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: Basics of technique and its nuances. ( 27365905 )
2016
20
Thoracoscopic Esophageal Atresia with Tracheoesophageal Fistula Repair: The First Iranian Group Report, Passing the Learning Curve. ( 27471677 )
2016
21
Environmental factors in the etiology of isolated and nonisolated esophageal atresia in a Chinese population: A case-control study. ( 27494675 )
2016
22
Routine post-operative esophagram is not necessary after repair of esophageal atresia. ( 28057296 )
2016
23
Weekday vs. weekend repair of esophageal atresia and tracheoesophageal fistula. ( 26932247 )
2016
24
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. ( 27139297 )
2016
25
Pure Esophageal Atresia without a Gap: An Unusual Variant. ( 27123408 )
2016
26
Is fundoplication required after the Foker procedure for long gap esophageal atresia? ( 28063681 )
2016
27
Validation of an inanimate low cost model for training minimal invasive surgery (MIS) of esophageal atresia with tracheoesophageal fistula (AE/TEF) repair. ( 27530889 )
2016
28
An approximation technique for primary anastomosis (Gazi method) in selected cases of long gap esophageal atresia. ( 26961289 )
2016
29
Prevalence of Barrett Esophagus in Adolescents and Young Adults With Esophageal Atresia. ( 27163954 )
2016
30
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. ( 27607100 )
2016
31
Transition of Patients with Esophageal Atresia to Adult Care: Results of a Transition-Specific Education Program. ( 27522121 )
2016
32
An Unusual Passage of a Nasogastric Tube in Esophageal Atresia. ( 26794469 )
2016
33
The management of newborns with esophageal atresia and right aortic arch: A systematic review or still unsolved problem. ( 26592954 )
2016
34
Posttraumatic Stress Reactions in Parents of Children Esophageal Atresia. ( 26953589 )
2016
35
Gastric tube esophageal reconstruction in children with esophageal atresia and caustic stricture Study of clinical value based on 25 single-center. Centre experience. ( 27872426 )
2016
36
Coping strategies used by children and adolescents born with esophageal atresia - a focus group study obtaining the child and parent perspective. ( 27469614 )
2016
37
Assessment of Clinical Symptoms and Multichannel Intraluminal Impedance and pH Monitoring in Children After Thoracoscopic Repair of Esophageal Atresia and Distal Tracheoesophageal Fistula. ( 28028956 )
2016
38
Functional residual capacity and lung clearance index in infants treated for esophageal atresia and tracheoesophageal fistula. ( 26607967 )
2016
39
Outcomes of thoracoscopy versus thoracotomy for esophageal atresia with tracheoesophageal fistula repair: A PRISMA-compliant systematic review and meta-analysis. ( 27472740 )
2016
40
Long Upper Pouch in Esophageal Atresia: A Rare Variant. ( 26793598 )
2016
41
Esophageal Atresia: Future Directions for Research on the Digestive Tract. ( 27533315 )
2016
42
Long-term morbidity in adolescents and young adults with surgically treated esophageal atresia. ( 28028638 )
2016
43
Repair of esophageal atresia with proximal fistula using endoscopic magnetic compression anastomosis (magnamosis) after staged lengthening. ( 27012861 )
2016
44
Fluoroscopic balloon dilatation for anastomotic strictures in patients with esophageal atresia: A fifteen-year single centre UK experience. ( 27032608 )
2016
45
END-TO-END VERSUS END-TO-SIDE ANASTOMOSIS IN THE TREATMENT OF ESOPHAGEAL ATRESIA OR TRACHEO-ESOPHAGEAL FISTULA. ( 27120740 )
2016
46
Creation of an animal model for long gap pure esophageal atresia. ( 27838766 )
2016
47
Esophageal Atresia with Tracheoesophageal Fistula. ( 27387366 )
2016
48
Categorization and repair of recurrent and acquired tracheoesophageal fistulae occurring after esophageal atresia repair. ( 27616617 )
2016
49
Long-term pulmonary function in esophageal atresia-A case-control study. ( 27164020 )
2016
50
An assessment of quality of life of operated cases of esophageal atresia in the community. ( 27365908 )
2016

Variations for Esophageal Atresia

Expression for Esophageal Atresia

Search GEO for disease gene expression data for Esophageal Atresia.

Pathways for Esophageal Atresia

GO Terms for Esophageal Atresia

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

id Name GO ID Score Top Affiliating Genes
1 ciliary base GO:0097546 8.62 GLI2 GLI3

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

(show top 50) (show all 77)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 FOXF1 GLI2 GLI3 SHH
2 axon guidance GO:0007411 9.96 GLI2 GLI3 NOG SHH
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.94 GLI3 NOG SHH SOX2
4 regulation of gene expression GO:0010468 9.92 GLI3 SHH SOX2
5 negative regulation of gene expression GO:0010629 9.91 MYCN NOG SHH
6 skeletal system development GO:0001501 9.9 CHD7 GLI2 NOG
7 osteoblast differentiation GO:0001649 9.89 GLI2 NOG SOX2
8 kidney development GO:0001822 9.89 GLI2 GLI3 SHH
9 central nervous system development GO:0007417 9.89 CHD7 GLI3 NOG SHH
10 in utero embryonic development GO:0001701 9.89 CHD7 FOXF1 GLI2 GLI3 NOG
11 anterior/posterior pattern specification GO:0009952 9.88 GLI2 GLI3 SHH
12 palate development GO:0060021 9.87 CHD7 GLI3 SHH
13 forebrain development GO:0030900 9.87 GLI3 SHH SOX2
14 camera-type eye development GO:0043010 9.85 CHD7 GLI3 SHH
15 negative regulation of cell differentiation GO:0045596 9.85 GLI3 NOG SHH
16 odontogenesis of dentin-containing tooth GO:0042475 9.85 GLI2 GLI3 SHH
17 inner ear development GO:0048839 9.84 GLI3 SHH SOX2
18 neural tube development GO:0021915 9.82 GLI2 GLI3 NOG
19 smoothened signaling pathway GO:0007224 9.81 FOXF1 GLI2 GLI3 SHH
20 pituitary gland development GO:0021983 9.78 GLI2 NOG SOX2
21 pattern specification process GO:0007389 9.78 GLI2 GLI3 NOG SHH
22 developmental growth GO:0048589 9.77 GLI2 GLI3 SHH
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 FOXF1 MYCN SHH
24 dorsal/ventral pattern formation GO:0009953 9.76 GLI2 GLI3 NOG SHH
25 embryonic skeletal system development GO:0048706 9.75 NOG SHH
26 embryonic organ development GO:0048568 9.75 GLI3 SHH
27 oligodendrocyte differentiation GO:0048709 9.75 GLI3 SHH
28 metanephros development GO:0001656 9.75 GLI3 SHH
29 neuron fate commitment GO:0048663 9.74 GLI3 SHH
30 mammary gland development GO:0030879 9.74 GLI2 GLI3
31 T cell differentiation in thymus GO:0033077 9.74 GLI3 SHH
32 embryonic hindlimb morphogenesis GO:0035116 9.74 CHD7 SHH
33 pancreas development GO:0031016 9.74 FOXF1 SHH
34 spinal cord motor neuron differentiation GO:0021522 9.74 GLI2 GLI3 SHH
35 proximal/distal pattern formation GO:0009954 9.73 GLI2 GLI3
36 renal system development GO:0072001 9.73 FOXF1 SHH
37 hindbrain development GO:0030902 9.73 GLI2 SHH
38 positive regulation of neuroblast proliferation GO:0002052 9.73 GLI3 SHH
39 osteoblast development GO:0002076 9.73 GLI2 SHH
40 lung morphogenesis GO:0060425 9.73 FOXF1 NOG SHH
41 limb development GO:0060173 9.73 CHD7 GLI3 NOG SHH
42 positive regulation of protein import into nucleus GO:0042307 9.72 GLI3 SHH
43 epithelial tube branching involved in lung morphogenesis GO:0060441 9.72 FOXF1 SHH
44 somite development GO:0061053 9.72 NOG SHH
45 embryonic morphogenesis GO:0048598 9.72 GLI3 SHH
46 dorsal/ventral neural tube patterning GO:0021904 9.72 GLI2 SHH
47 embryonic digestive tract morphogenesis GO:0048557 9.72 FOXF1 GLI3 SHH
48 negative regulation of astrocyte differentiation GO:0048712 9.71 MYCN NOG
49 negative thymic T cell selection GO:0045060 9.71 GLI3 SHH
50 embryonic digestive tract development GO:0048566 9.71 FOXF1 GLI2 GLI3

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.46 FOXF1 GLI2 GLI3 SOX2
2 transcription regulatory region DNA binding GO:0044212 9.43 FOXF1 GLI2 SOX2
3 transcription factor activity, sequence-specific DNA binding GO:0003700 9.35 FOXF1 GLI2 GLI3 MYCN SOX2
4 promoter-specific chromatin binding GO:1990841 8.62 CHD7 GLI2

Sources for Esophageal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....