MCID: ESP020
MIFTS: 62

Esophageal Atresia

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Esophageal Atresia

Summaries for Esophageal Atresia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1199 Definition Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. Epidemiology OA occurs in 1 in 2500 live births. Clinical description Infants with OA are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning. Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association anomalies (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects). In 86% of cases there is a distal tracheooesophageal fistula, in 7% of cases there is no fistulous connection, while in 4% of cases there is a tracheooesophageal fistula without atresia. The remaining cases are made up of patients with OA with proximal, or both proximal and distal, tracheooesophageal fistula. Etiology The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal models , particularly defects in the expression of the Sonic hedgehog (Shh ) gene . Diagnostic methods The diagnosis may be suspected prenatally by a small or absent stomach bubble on ultrasound scan at around 18 weeks of gestation. The likelihood of an atresia is increased by the presence of polyhydramnios. Inserting a nasogastric tube at birth allows the diagnosis to be confirmed or excluded and should be performed in all infants born to a mother with polyhydramnios, as well as in infants who produce excessive mucus soon after delivery. In OA, the tube will not progress beyond 10 cm from the mouth. Further confirmation is obtained by plain X-ray of the chest and abdomen. Genetic counseling The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. Management and treatment Definitive management involves disconnection of the tracheooesophageal fistula, closure of the tracheal defect and primary anastomosis of the oesophagus. Delayed primary repair should be attempted when there is a 'long gap' between the ends of the oesophagus. Only very rarely willoesophageal replacement be required. Prognosis Survival is directly related to birth weight and to the presence of a major cardiac defect. Infants weighing over 1500 g and having no major cardiac problems have a near 100% survival rate, but the survival rate decreases in the presence of additional risk factors . Visit the Orphanet disease page for more resources.

MalaCards based summary : Esophageal Atresia, also known as congenital imperforate esophagus, is related to tracheoesophageal fistula with or without esophageal atresia and esophageal atresia/tracheoesophageal fistula. An important gene associated with Esophageal Atresia is SOX2 (SRY-Box Transcription Factor 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Omeprazole and Anti-Ulcer Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, lung and heart, and related phenotypes are tracheoesophageal fistula and dysphagia

Wikipedia : 74 Esophageal atresia is a congenital medical condition (birth defect) that affects the alimentary tract.... 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 334)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula with or without esophageal atresia 34.7 NOG FANCC
2 esophageal atresia/tracheoesophageal fistula 33.8 TEF FANCC FANCB FANCA CHD7
3 feingold syndrome 1 32.8 MYCN GLI3 FOXF1 CHD7
4 fanconi anemia, complementation group b 32.0 FANCE FANCD2 FANCC FANCB FANCA
5 vacterl association 32.0 TEF SHH LPP FOXF1 FANCB CHD7
6 duodenal atresia 30.9 TEF SHH MYCN FOXF1
7 diaphragmatic hernia, congenital 30.7 TEF SHH GLI3 FOXF1
8 hernia, hiatus 30.6 TEF FOXF1
9 patent ductus arteriosus 1 30.4 TEF FOXF1 CHD7
10 townes-brocks syndrome 30.4 SHH GLI3 CHD7
11 choanal atresia, posterior 30.3 TEF SHH EFTUD2 CHD7
12 charge syndrome 30.3 TEF SOX2 SHH GLI3 CHD7
13 tetralogy of fallot 30.2 TEF SHH LPP CHD7
14 coloboma of macula 30.2 SOX2 SHH GLI3 EFTUD2 CHD7
15 synostosis 30.2 SHH NOG GLI3
16 pancreas, annular 30.2 TEF SHH FOXF1
17 pallister-hall syndrome 30.1 SHH GLI3 GLI2 FOXF1
18 holoprosencephaly 30.0 SHH NOG GLI3 GLI2
19 anus, imperforate 30.0 TEF SHH GLI3 GLI2 FOXF1 FANCB
20 fanconi anemia, complementation group c 29.9 FANCD2 FANCC FANCA
21 cleft palate, isolated 29.8 SHH NOG GLI3 GLI2 EFTUD2
22 fanconi anemia, complementation group f 29.6 FANCE FANCD2 FANCC FANCA
23 fanconi anemia, complementation group e 29.6 FANCE FANCD2 FANCC FANCA
24 fanconi anemia, complementation group i 29.3 FANCM FANCD2
25 fanconi anemia, complementation group a 29.0 FANCM FANCE FANCD2 FANCC FANCB FANCA
26 fanconi anemia, complementation group q 28.9 FANCM FANCE FANCD2 FANCC FANCB FANCA
27 fanconi anemia, complementation group o 28.9 FANCM FANCE FANCD2 FANCC FANCB FANCA
28 fanconi anemia, complementation group p 28.9 FANCM FANCE FANCD2 FANCC FANCB FANCA
29 fanconi anemia, complementation group n 28.9 FANCM FANCE FANCD2 FANCC FANCB FANCA
30 fanconi anemia, complementation group d1 28.9 FANCM FANCE FANCD2 FANCC FANCB FANCA
31 fanconi anemia, complementation group j 28.9 FANCM FANCE FANCD2 FANCC FANCB FANCA
32 microphthalmia, syndromic 3 12.4
33 anophthalmia esophageal atresia cryptorchidism 12.3
34 esophageal atresia coloboma talipes 12.3
35 mandibulofacial dysostosis, guion-almeida type 11.9
36 vater/vacterl association 11.8
37 arroyo garcia cimadevilla syndrome 11.6
38 cartilage-hair hypoplasia 11.3
39 diarrhea 5, with tufting enteropathy, congenital 11.3
40 anophthalmos with limb anomalies 11.3
41 methimazole antenatal exposure 11.3
42 gastroesophageal reflux 11.0
43 dysphagia 10.8
44 tracheomalacia 10.8
45 esophagitis 10.7
46 polyhydramnios 10.6
47 barrett esophagus 10.6
48 holzgreve syndrome 10.6 SOX2 GLI3
49 chromosomal triplication 10.6
50 melanotic medulloblastoma 10.5 SHH MYCN

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



Diseases related to Esophageal Atresia

Symptoms & Phenotypes for Esophageal Atresia

Human phenotypes related to Esophageal Atresia:

31 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 tracheoesophageal fistula 31 hallmark (90%) HP:0002575
2 dysphagia 31 frequent (33%) HP:0002015
3 recurrent respiratory infections 31 frequent (33%) HP:0002205
4 feeding difficulties in infancy 31 frequent (33%) HP:0008872
5 vomiting 31 frequent (33%) HP:0002013
6 restrictive ventilatory defect 31 frequent (33%) HP:0002091
7 failure to thrive in infancy 31 frequent (33%) HP:0001531
8 chronic obstructive pulmonary disease 31 frequent (33%) HP:0006510
9 esophagitis 31 frequent (33%) HP:0100633
10 immunologic hypersensitivity 31 frequent (33%) HP:0100326
11 excessive salivation 31 frequent (33%) HP:0003781
12 oral aversion 31 frequent (33%) HP:0012523
13 gastrointestinal dysmotility 31 frequent (33%) HP:0002579
14 absence of stomach bubble on fetal sonography 31 frequent (33%) HP:0010963
15 bronchitis 31 frequent (33%) HP:0012387
16 clinodactyly 31 occasional (7.5%) HP:0030084
17 abnormal vertebral morphology 31 occasional (7.5%) HP:0003468
18 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
19 polyhydramnios 31 occasional (7.5%) HP:0001561
20 pallor 31 occasional (7.5%) HP:0000980
21 growth delay 31 occasional (7.5%) HP:0001510
22 anorectal anomaly 31 occasional (7.5%) HP:0012732
23 pyloric stenosis 31 occasional (7.5%) HP:0002021
24 aspiration 31 occasional (7.5%) HP:0002835
25 cyanosis 31 occasional (7.5%) HP:0000961
26 vocal cord paresis 31 occasional (7.5%) HP:0001604
27 small for gestational age 31 occasional (7.5%) HP:0001518
28 subglottic stenosis 31 occasional (7.5%) HP:0001607
29 episodic respiratory distress 31 occasional (7.5%) HP:0004885
30 laryngotracheomalacia 31 occasional (7.5%) HP:0008755
31 scoliosis 31 very rare (1%) HP:0002650
32 muscular hypotonia 31 very rare (1%) HP:0001252
33 hearing impairment 31 very rare (1%) HP:0000365
34 abnormal facial shape 31 very rare (1%) HP:0001999
35 ventricular septal defect 31 very rare (1%) HP:0001629
36 hypertonia 31 very rare (1%) HP:0001276
37 cleft palate 31 very rare (1%) HP:0000175
38 coarctation of aorta 31 very rare (1%) HP:0001680
39 choanal atresia 31 very rare (1%) HP:0000453
40 tetralogy of fallot 31 very rare (1%) HP:0001636
41 intestinal malrotation 31 very rare (1%) HP:0002566
42 gastrointestinal carcinoma 31 very rare (1%) HP:0002672
43 omphalocele 31 very rare (1%) HP:0001539
44 pulmonary hypoplasia 31 very rare (1%) HP:0002089
45 maternal diabetes 31 very rare (1%) HP:0009800
46 renal agenesis 31 very rare (1%) HP:0000104
47 duodenal atresia 31 very rare (1%) HP:0002247
48 abnormal external genitalia 31 very rare (1%) HP:0000811
49 coloboma 31 very rare (1%) HP:0000589
50 laryngeal cleft 31 very rare (1%) HP:0008751

MGI Mouse Phenotypes related to Esophageal Atresia:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.47 CHD7 FAAP20 FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 10.37 CHD7 FAAP20 FANCA FANCB FANCC FANCD2
3 homeostasis/metabolism MP:0005376 10.35 CHD7 CLIP3 EFTUD2 FANCA FANCB FANCD2
4 growth/size/body region MP:0005378 10.32 CHD7 EFTUD2 FANCA FANCB FANCD2 FANCE
5 mortality/aging MP:0010768 10.31 CHD7 CLIP3 EFTUD2 FANCA FANCD2 FANCM
6 reproductive system MP:0005389 10.25 CHD7 EFTUD2 FAAP20 FANCA FANCB FANCC
7 embryo MP:0005380 10.24 CHD7 EFTUD2 FANCA FOXF1 GLI2 GLI3
8 craniofacial MP:0005382 10.16 CHD7 FANCA GLI2 GLI3 MYCN NOG
9 digestive/alimentary MP:0005381 10.15 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
10 nervous system MP:0003631 10.11 CHD7 CLIP3 FANCD2 GAL GLI2 GLI3
11 muscle MP:0005369 10.01 CHD7 CLIP3 FOXF1 GLI2 MYCN NOG
12 limbs/digits/tail MP:0005371 10 CHD7 FANCD2 GLI2 GLI3 MYCN NOG
13 hearing/vestibular/ear MP:0005377 9.97 CHD7 GLI2 GLI3 NOG SHH SOX2
14 respiratory system MP:0005388 9.91 CHD7 CLIP3 FOXF1 GLI2 GLI3 MYCN
15 skeleton MP:0005390 9.81 CHD7 FANCA FANCC GLI2 GLI3 MYCN
16 vision/eye MP:0005391 9.28 CHD7 FANCA FANCD2 GLI2 GLI3 MYCN
17 taste/olfaction MP:0005394 9.26 GLI3 NOG SHH SOX2

Drugs & Therapeutics for Esophageal Atresia

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Anti-Ulcer Agents Phase 3
3 Gastrointestinal Agents Phase 3
4 Antacids Phase 3
5 Proton Pump Inhibitors Phase 3
6 Fibrin Tissue Adhesive Phase 3
7 Hemostatics Phase 3
8 Coagulants Phase 3
9
Nitric Oxide Approved 10102-43-9 145068
10
Ropivacaine Approved 84057-95-4 71273 175805
11
Budesonide Approved 51333-22-3 63006 5281004
12 Neurotransmitter Agents
13 Antioxidants
14 Free Radical Scavengers
15 Vasodilator Agents
16 Protective Agents
17 Chlorhexidine gluconate
18 Anesthetics, Local
19 Central Nervous System Depressants
20 Anti-Asthmatic Agents
21 Respiratory System Agents
22 Autonomic Agents
23 Bronchodilator Agents
24 Anesthetics
25 Hormone Antagonists
26 Anti-Inflammatory Agents
27 glucocorticoids
28 Hormones
29 Histamine H2 Antagonists
30 Ranitidine bismuth citrate

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 A Multi-Center Randomized Trial of Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair Recruiting NCT03730454 Phase 4
2 Rectal and Oral Omeprazole Treatment of Gastroesophageal Reflux in Infants With Esophageal Atresia or Congenital Diaphragmatic Hernia; A Pharmacodynamic and Pharmacokinetic Study. Completed NCT00226044 Phase 3 Omeprazole rectally 1mg/kg
3 A Multicenter Prospective Randomized Controlled Study of Porcine Fibrin Sealant in Preventing Cervical Anastomotic Leakage for Esophageal or Junctional Carcinoma. (PLACE030) Recruiting NCT03847857 Phase 3
4 Porcine Fibrin Sealant in Preventing Cervical Anastomotic Leakage After Esophagectomy for Esophageal or Junctional Carcinoma: A Phase II,Single Arm,Prospective Study. Active, not recruiting NCT03529266 Phase 2
5 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Withdrawn NCT03127345 Phase 2 Omegaven;Intralipid
6 Hypercapnia During Thoracoscopy or Open Surgery for Repair of Oesophageal Atresia With Tracheo-oesophageal Fistula or Congenital Diaphragmatic Hernia in Neonates: Pilot Randomised Controlled Trial Unknown status NCT01467245
7 Individualized Diagnosis and Treatment for Long Gap Esophageal Atresia Based on the Principle of Biological Growth Under Stress Unknown status NCT03023865
8 Frequency of Occurrence of Dumping Syndrome After Operation of Esophageal Atresia Type III Completed NCT02525705
9 Observational Longitudinal Study in Children With the Diagnosis of Diaphragmatic Hernia and/or Oesophageal Atresia for Assessing Lung Function Parameters and Quality of Life Completed NCT02466451
10 Concerns of Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
11 Prevalence of Barrett's Esophagus in Adolescents and Young Adults With Esophageal Atresia Completed NCT02495051
12 Chewing Function in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
13 High-resolution Esophageal Manometry in Teenagers With Esophageal Atresia Completed NCT03415893
14 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
15 Esaphageal Balloon Dilatation in Children: Hemodynamic , Ventilatory Changes and Complications Completed NCT02512770
16 Qualitative Study of the Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation on the Parental Adjustment of the First Year Completed NCT03565822
17 National Register of Oesophageal Atresia Recruiting NCT02883725
18 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Recruiting NCT03666767
19 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Recruiting NCT03615495
20 Examination of the Cardiorespiratory Performance Capacity and Pulmonary Microbiome in Patients Following Surgical Repair of Esophageal Atresia Recruiting NCT03767673
21 Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period Recruiting NCT04072419
22 Blood Ropivacaine Concentrations Following Paravertebral Nerve Block and Continuous Infusion in Infants and Toddlers Undergoing Staged Esophageal Atresia Repair Recruiting NCT02860091 Ropivacaine infusion
23 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
24 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
25 Pilot Study on Sham Feeding in Post-operative Gastrointestinal Surgery Infants Active, not recruiting NCT03350022
26 A Mixed Methods Exploration of Early Feeding in Children Born With Oesophageal Atresia/Trache-oesophageal Fistula. Not yet recruiting NCT04183621
27 Evaluation of the Respiratory Impact of Post-operative Chest Wall Anomalies After Conventional or Minimally Invasive Esophageal Atresia Surgery Not yet recruiting NCT04136795
28 A Multicentre, Prospective, Randomized, Placebo Controlled, Double-blinded Study to Demonstrate Potential and Beneficial Effects of Oral Viscous Budesonide (OVB) in the Prevention of Recurrence of Anastomotic Stricture in Children Operated on for Esophageal Atresia With Recurrent Anastomotic Strictures Not yet recruiting NCT03999008 Budesonide Oral;Placebos
29 Management of Esophagitis Following Repair of Esophageal Atresia Not yet recruiting NCT03619408 Antacids
30 Assessment of Feeding and Eating Disorders of Young Children : Standardisation of a New Tool, the Hetero-questionnaire Named ORALQUEST Not yet recruiting NCT04133038
31 Sonographic Assessment of Cricoid Pressure Not yet recruiting NCT04190524

Search NIH Clinical Center for Esophageal Atresia

Cochrane evidence based reviews: esophageal atresia

Genetic Tests for Esophageal Atresia

Anatomical Context for Esophageal Atresia

MalaCards organs/tissues related to Esophageal Atresia:

40
Colon, Lung, Heart, Trachea, Brain, Pancreas, Testes

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 3738)
# Title Authors PMID Year
1
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. 54 61
18983945 2009
2
Ductus venosus-systemic shunt. Report of six cases and systematic review of the literature. 61
30691333 2020
3
Fiberoptic bronchoesophagoscopy-assisted evaluation and prognostic factor analysis in children with congenital esophageal atresia and tracheoesophageal fistula. 61
31876795 2020
4
H-type tracheoesophageal fistula in the neonatal period: Difficulties in diagnosis and different treatment approaches. A case series. 61
31984700 2020
5
Tracheal agenesis with esophageal atresia: an autopsy case report of a variant incompatible with life. 61
31314628 2020
6
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations. 61
31837127 2020
7
Congenital heart defects: the 10-year experience at a single center. 61
29914284 2020
8
Criticality in tailoring the treatment for tracheoesophageal fistulas in children. 61
31707468 2020
9
Innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy. 61
30908672 2020
10
Comorbidities and course of lung function in patients with congenital esophageal atresia. 61
31984692 2020
11
Management of Choledocholithiasis in a 5-Month-Old Male Postprimary Repair of Esophageal Atresia with Tracheoesophageal Fistula. 61
31896899 2020
12
The Impact of Congenital Esophageal Atresia on the Family Functioning. 61
31027866 2020
13
Predictors of Mortality after Primary Discharge from Hospital in Patients with Esophageal Atresia. 61
31952847 2020
14
Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts. 61
31959377 2020
15
Impact of Intravenous Omega-3-Enriched Lipid Emulsion on Liver Enzyme and Triglyceride Serum Levels of Children Undergoing Gastrointestinal Surgery. 61
31988880 2020
16
Nutritional Status in Adolescents with Esophageal Atresia. 61
31982089 2020
17
Diagnostic Difficulties Reveal Rare form of Membranous Esophageal Atresia. 61
31805598 2020
18
Pulmonary function in children and adolescents after esophageal atresia repair. 61
31535483 2020
19
Laparoscopic Collis-Nissen approach for shortened esophagus treatment in children. 61
31967614 2020
20
Classical but Not Rap Music Significantly Improves Transferability and Long-Term Acquisition of Laparoscopic Suturing Skills: A Randomized Controlled Trial. 61
31910451 2020
21
Dynamic study by magnetic resonance imaging in the evaluation of fetal esophageal atresia. 61
31945249 2020
22
Fixed the gap, solved the problem? Eating skills in esophageal atresia patients at 3 years. 61
31907526 2020
23
Frequency of Abnormal Glucose Tolerance Test Suggestive of Dumping Syndrome Following œsophageal Atresia Repair. 61
32000165 2020
24
Gastro-oesophageal reflux disease in infancy: a review based on international guidelines. 61
31834639 2020
25
Feeding problems and gastrointestinal diseases in Down syndrome. 61
31784293 2020
26
A Novel Technique for Prevention of Gastroesophageal Reflux in Staged Repair of Long Gap Esophageal Atresia with Tracheoesophageal Fistula. 61
31896897 2020
27
Indications, Surgical Complications, and Long-Term Outcomes in Pediatric Esophageal Reconstructions with Pedicled Jejunal Interposition Graft. 61
31893560 2020
28
Development of an instrumented thoracoscopic surgical trainer for objective evaluation of esophageal atresia/tracheoesophageal fistula repair. 61
31927721 2020
29
Interkinetic nuclear movements promote apical expansion in pseudostratified epithelia at the expense of apicobasal elongation. 61
31869321 2019
30
Pediatric Esophageal Dilatations: A Cross-Specialty Experience. 61
31794681 2019
31
Prevalence and Predictive Factors of Histopathological Complications in Children with Esophageal Atresia. 61
30566986 2019
32
Pneumonia after Repair of Esophageal Atresia-Incidence and Main Risk Factors. 61
30469161 2019
33
Quality of life assessment in esophageal atresia patients: a systematic review focusing on long-gap esophageal atresia. 61
31669125 2019
34
A clinical-grade acellular matrix for esophageal replacement. 61
31670903 2019
35
Esophageal Diameters in Children Correlated to Body Weight. 61
30477027 2019
36
Isl1 Regulation of Nkx2.1 in the Early Foregut Epithelium Is Required for Trachea-Esophageal Separation and Lung Lobation. 61
31813798 2019
37
Sonographic demonstration of fetal esophagus using three-dimensional ultrasound imaging. 61
30672651 2019
38
Quantitative MRI study of infant regional brain size following surgery for long-gap esophageal atresia requiring prolonged critical care. 61
31563705 2019
39
Neurologic Injury and Brain Growth in the Setting of Long-Gap Esophageal Atresia Perioperative Critical Care: A Pilot Study. 61
31861169 2019
40
Intramural Injection of Botulinum Toxin A in Surgical Treatment of a Long Gap Esophageal Atresia-Rat Model. 61
31858493 2019
41
Therapeutic effect of one-stage esophageal replacement with stomach in newborns in the treatment of long-gap esophageal atresia. 61
28471144 2019
42
An interesting case of 'strange lines' a neonate with oesophageal atresia, tracheo-oesophageal fistula, situs inversus abdominalis and azygos continuation. 61
31791982 2019
43
Intralesional steroid injections to prevent refractory strictures in patients with oesophageal atresia: study protocol for an international, multicentre randomised controlled trial (STEPS-EA trial). 61
31848172 2019
44
Acquired Tracheoesophageal Fistula After Esophageal Atresia Repair 61
31742365 2019
45
Long-Term Effectiveness of Antireflux Surgery in Esophageal Atresia Patients. 61
30822811 2019
46
Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula. 61
31993350 2019
47
Gastric heterotopic pancreas in children: A prospective endoscopic study. 61
31757509 2019
48
Critical design and validation considerations for the development of neonatal minimally invasive surgery simulators. 61
31213289 2019
49
Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. 61
31436871 2019
50
Thoracoscopy vs. thoracotomy for the repair of esophageal atresia and tracheoesophageal fistula: a systematic review and meta-analysis. 61
31359222 2019

Variations for Esophageal Atresia

ClinVar genetic disease variations for Esophageal Atresia:

6 (show top 50) (show all 118) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 34 genes: MAGEL2 , SNURF , UBE3A complex Pathogenic 638670 15:22676913-30137106
2 CAMTA1 NM_015215.4(CAMTA1):c.2153A>G (p.Tyr718Cys)SNV Likely pathogenic 691417 1:7724760-7724760 1:7664700-7664700
3 ZAP70 NM_001079.3(ZAP70):c.880C>G (p.Pro294Ala)SNV Likely pathogenic 691471 2:98350049-98350049 2:97733586-97733586
4 CELF3 NM_007185.7(CELF3):c.367G>A (p.Glu123Lys)SNV Likely pathogenic 691420 1:151681735-151681735 1:151709259-151709259
5 SOX2 NM_003106.4(SOX2):c.698C>G (p.Pro233Arg)SNV Likely pathogenic 691384 3:181430846-181430846 3:181713058-181713058
6 TENT5A NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg)SNV Likely pathogenic 691346 6:82461794-82461794 6:81752077-81752077
7 UNC13A NM_001080421.2(UNC13A):c.4225G>A (p.Gly1409Ser)SNV Likely pathogenic 691465 19:17732658-17732658 19:17621849-17621849
8 SH3KBP1 NM_031892.3(SH3KBP1):c.801G>C (p.Lys267Asn)SNV Likely pathogenic 691378 X:19663519-19663519 X:19645401-19645401
9 KALRN NM_001024660.4(KALRN):c.5395A>G (p.Ser1799Gly)SNV Likely pathogenic 691361 3:124351485-124351485 3:124632638-124632638
10 TMCC1 NM_001349272.1(TMCC1):c.889C>T (p.Arg297Trp)SNV Uncertain significance 691459 3:129389276-129389276 3:129670433-129670433
11 IGSF3 NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu)SNV Uncertain significance 691355 1:117142751-117142751 1:116600129-116600129
12 RPGR NM_000328.3(RPGR):c.780G>T (p.Glu260Asp)SNV Uncertain significance 691374 X:38164042-38164042 X:38304789-38304789
13 SLC38A5 NM_033518.4(SLC38A5):c.517C>G (p.Leu173Val)SNV Uncertain significance 691383 X:48321340-48321340 X:48462955-48462955
14 WDR13 NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile)SNV Uncertain significance 691467 X:48460251-48460251 X:48601863-48601863
15 CDC27 NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)SNV Uncertain significance 691419 17:45266535-45266535 17:47189169-47189169
16 DSCAM NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn)SNV Uncertain significance 691432 21:41427708-41427708 21:40055781-40055781
17 ATP13A1 NM_020410.3(ATP13A1):c.1790C>T (p.Ala597Val)SNV Uncertain significance 691411 19:19765375-19765375 19:19654566-19654566
18 KMT2B NM_014727.2(KMT2B):c.4166C>T (p.Thr1389Ile)SNV Uncertain significance 691443 19:36218387-36218387 19:35727486-35727486
19 CLIP3 NM_015526.3(CLIP3):c.1255G>A (p.Gly419Arg)SNV Uncertain significance 691424 19:36508822-36508822 19:36017920-36017920
20 CLIP3 NM_015526.3(CLIP3):c.2T>C (p.Met1Thr)SNV Uncertain significance 691423 19:36523258-36523258 19:36032356-36032356
21 ATP1A3 NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile)SNV Uncertain significance 691412 19:42480684-42480684 19:41976532-41976532
22 MEGF8 NM_001271938.2(MEGF8):c.124G>C (p.Gly42Arg)SNV Uncertain significance 691446 19:42830519-42830519 19:42326367-42326367
23 IRGQ NM_001007561.2(IRGQ):c.1000G>A (p.Glu334Lys)SNV Uncertain significance 691358 19:44097050-44097050 19:43592898-43592898
24 INSR NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr)SNV Uncertain significance 691357 19:7122895-7122895 19:7122884-7122884
25 XAB2 NM_020196.3(XAB2):c.644A>G (p.Lys215Arg)SNV Uncertain significance 691468 19:7691035-7691035 19:7626149-7626149
26 XKR7 NM_001011718.2(XKR7):c.1025G>A (p.Trp342Ter)SNV Uncertain significance 691469 20:30584545-30584545 20:31996742-31996742
27 HSPA12B NM_052970.5(HSPA12B):c.944G>A (p.Arg315His)SNV Uncertain significance 691354 20:3730403-3730403 20:3749756-3749756
28 GNAS NM_001077488.4(GNAS):c.977C>T (p.Thr326Ile)SNV Uncertain significance 691351 20:57485392-57485392 20:58910337-58910337
29 DGCR8 NM_022720.7(DGCR8):c.1253G>A (p.Gly418Glu)SNV Uncertain significance 691428 22:20077728-20077728 22:20090205-20090205
30 PI4KA NM_058004.4(PI4KA):c.508G>C (p.Ala170Pro)SNV Uncertain significance 691368 22:21174848-21174848 22:20820560-20820560
31 GNAZ NM_002073.4(GNAZ):c.493G>A (p.Ala165Thr)SNV Uncertain significance 691352 22:23438375-23438375 22:23096188-23096188
32 MYH9 NM_002473.5(MYH9):c.5734C>T (p.Arg1912Cys)SNV Uncertain significance 691449 22:36680170-36680170 22:36284124-36284124
33 MID2 NM_012216.4(MID2):c.1757T>C (p.Ile586Thr)SNV Uncertain significance 691447 X:107169483-107169483 X:107926253-107926253
34 TENT5A NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala)SNV Uncertain significance 691345 6:82461795-82461795 6:81752078-81752078
35 TENT5A NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly)SNV Uncertain significance 691347 6:82461833-82461833 6:81752116-81752116
36 CUX1 NM_181552.4(CUX1):c.3367T>C (p.Ser1123Pro)SNV Uncertain significance 691426 7:101870883-101870883 7:102227603-102227603
37 ZNF777 NM_015694.3(ZNF777):c.2317A>G (p.Thr773Ala)SNV Uncertain significance 691473 7:149129046-149129046 7:149431955-149431955
38 KLHL7 NM_001031710.3(KLHL7):c.1268A>G (p.His423Arg)SNV Uncertain significance 691441 7:23207545-23207545 7:23167926-23167926
39 XPO7 NM_015024.5(XPO7):c.110T>G (p.Phe37Cys)SNV Uncertain significance 691470 8:21824459-21824459 8:21966948-21966948
40 NOTCH1 NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro)SNV Uncertain significance 691452 9:139393614-139393614 9:136499162-136499162
41 ANAPC2 NM_013366.4(ANAPC2):c.1399G>A (p.Gly467Ser)SNV Uncertain significance 691341 9:140076202-140076202 9:137181750-137181750
42 RORB NM_006914.4(RORB):c.953T>C (p.Val318Ala)SNV Uncertain significance 691373 9:77280464-77280464 9:74665548-74665548
43 SLC18A2 NM_003054.6(SLC18A2):c.1505C>A (p.Ser502Ter)SNV Uncertain significance 691382 10:119036737-119036737 10:117277226-117277226
44 ITGB1 NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter)SNV Uncertain significance 691359 10:33197375-33197375 10:32908447-32908447
45 DSCAML1 NM_020693.4(DSCAML1):c.4034A>G (p.Asn1345Ser)SNV Uncertain significance 691343 11:117310092-117310092 11:117439376-117439376
46 KMT2A NM_005933.4(KMT2A):c.4810+6G>CSNV Uncertain significance 691442 11:118362030-118362030 11:118491315-118491315
47 CHST1 NM_003654.6(CHST1):c.1015G>A (p.Asp339Asn)SNV Uncertain significance 691422 11:45671459-45671459 11:45649909-45649909
48 AMBRA1 NM_001267782.2(AMBRA1):c.431C>T (p.Ala144Val)SNV Uncertain significance 691340 11:46567274-46567274 11:46545724-46545724
49 MARK2 NM_001039469.2(MARK2):c.1888G>C (p.Ala630Pro)SNV Uncertain significance 691445 11:63672469-63672469 11:63904997-63904997
50 NRXN2 NM_015080.4(NRXN2):c.3663C>A (p.Ser1221Arg)SNV Uncertain significance 691456 11:64397968-64397968 11:64630496-64630496

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:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.06 TEF SOX2 MYCN LPP GLI3 GLI2
2 nucleoplasm GO:0005654 9.77 SOX2 MYCN GLI3 GLI2 FANCM FANCE
3 Fanconi anaemia nuclear complex GO:0043240 9.1 FANCM FANCE FANCC FANCB FANCA FAAP20

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

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.28 TEF SOX2 SHH MYCN GLI3 FOXF1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.19 SOX2 SHH NOG GLI3 GLI2 FOXF1
3 positive regulation of transcription, DNA-templated GO:0045893 10.14 SOX2 SHH MYCN GLI3 GLI2 FOXF1
4 heart development GO:0007507 10.02 SHH GLI3 GLI2 FOXF1
5 axon guidance GO:0007411 10 SHH NOG GLI3 GLI2
6 cellular response to DNA damage stimulus GO:0006974 10 FANCM FANCE FANCD2 FANCC FANCB FANCA
7 negative regulation of canonical Wnt signaling pathway GO:0090090 9.97 SOX2 SHH NOG GLI3
8 in utero embryonic development GO:0001701 9.97 NOG GLI3 GLI2 FOXF1 CHD7
9 central nervous system development GO:0007417 9.94 SHH NOG GLI3 CHD7
10 anterior/posterior pattern specification GO:0009952 9.91 SHH GLI3 GLI2
11 DNA repair GO:0006281 9.91 FANCM FANCE FANCD2 FANCC FANCB FANCA
12 kidney development GO:0001822 9.9 SHH GLI3 GLI2
13 osteoblast differentiation GO:0001649 9.9 SOX2 NOG GLI2
14 forebrain development GO:0030900 9.88 SOX2 SHH GLI3
15 lung development GO:0030324 9.88 SHH GLI3 GLI2 FOXF1
16 roof of mouth development GO:0060021 9.87 SHH GLI3 CHD7
17 camera-type eye development GO:0043010 9.87 SHH GLI3 CHD7
18 negative regulation of cell differentiation GO:0045596 9.86 SHH NOG GLI3
19 odontogenesis of dentin-containing tooth GO:0042475 9.86 SHH GLI3 GLI2
20 inner ear development GO:0048839 9.85 SOX2 SHH GLI3
21 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 TEF SOX2 SHH NOG MYCN GLI3
22 neural tube development GO:0021915 9.84 NOG GLI3 GLI2
23 anatomical structure development GO:0048856 9.83 SHH GLI3 GLI2
24 smoothened signaling pathway GO:0007224 9.81 SHH GLI3 GLI2 FOXF1
25 pattern specification process GO:0007389 9.8 SHH NOG GLI3 GLI2
26 pituitary gland development GO:0021983 9.78 SOX2 NOG GLI2
27 embryonic digit morphogenesis GO:0042733 9.78 SHH NOG GLI3 GLI2
28 developmental growth GO:0048589 9.77 SHH GLI3 GLI2
29 branching morphogenesis of an epithelial tube GO:0048754 9.77 SHH GLI3 GLI2
30 embryonic morphogenesis GO:0048598 9.74 SHH GLI3
31 hindbrain development GO:0030902 9.74 SHH GLI2
32 neuronal stem cell population maintenance GO:0097150 9.74 SOX2 FANCD2 FANCC
33 brain morphogenesis GO:0048854 9.73 FANCD2 FANCC
34 osteoblast development GO:0002076 9.73 SHH GLI2
35 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 SHH FOXF1
36 spinal cord motor neuron differentiation GO:0021522 9.73 SHH GLI3 GLI2
37 limb development GO:0060173 9.73 SHH NOG GLI3 CHD7
38 somite development GO:0061053 9.72 SHH NOG
39 regulation of regulatory T cell differentiation GO:0045589 9.72 FANCD2 FANCA
40 prostate gland development GO:0030850 9.72 SHH GLI3
41 dorsal/ventral neural tube patterning GO:0021904 9.72 SHH GLI2
42 lung morphogenesis GO:0060425 9.72 SHH NOG FOXF1
43 renal system development GO:0072001 9.71 SHH FOXF1
44 negative thymic T cell selection GO:0045060 9.71 SHH GLI3
45 positive regulation of alpha-beta T cell differentiation GO:0046638 9.71 SHH GLI3
46 positive regulation of T cell differentiation in thymus GO:0033089 9.71 SHH GLI2
47 embryonic digestive tract development GO:0048566 9.71 GLI3 GLI2 FOXF1
48 dorsal/ventral pattern formation GO:0009953 9.71 SHH NOG GLI3 GLI2
49 embryonic foregut morphogenesis GO:0048617 9.7 SHH FOXF1
50 embryonic digestive tract morphogenesis GO:0048557 9.7 SHH GLI3 FOXF1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 TEF SOX2 MYCN GLI3 GLI2 FOXF1
2 DNA-binding transcription factor activity GO:0003700 9.63 TEF SOX2 MYCN GLI3 GLI2 FOXF1
3 protein binding GO:0005515 9.58 TEF SOX2 SHH NOG MYCN LPP
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.35 SOX2 MYCN GLI3 GLI2 FOXF1

Sources for Esophageal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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