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 microphthalmia, syndromic 3 and tracheoesophageal fistula with or without esophageal atresia. 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 Cells and Lineage-specific Markers. The drugs Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include colon, lung and trachea, and related phenotypes are tracheoesophageal fistula and recurrent respiratory infections

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 342)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 34.6 SOX2 SIX6
2 tracheoesophageal fistula with or without esophageal atresia 34.6 NOG FANCC EFTUD2
3 esophageal atresia/tracheoesophageal fistula 33.9 TEF FANCC FANCB FANCA CHD7
4 feingold syndrome 1 32.2 TEF MYCN GLI3 FOXF1 CHD7
5 fanconi anemia, complementation group b 31.7 FANCL FANCG FANCE FANCC FANCB FANCA
6 vacterl association 31.6 TEF SHH LPP FOXF1 FANCL FANCB
7 duodenal atresia 30.9 TEF SHH MYCN FOXF1
8 diaphragmatic hernia, congenital 30.8 TEF SHH GLI3 FOXF1
9 microphthalmia 30.6 SOX2 SIX6 SHH GLI2 CHD7
10 sox2-related eye disorders 30.6 SOX2 SIX6
11 hernia, hiatus 30.6 TEF FOXF1
12 choanal atresia, posterior 30.5 TEF EFTUD2 CHD7
13 dysostosis 30.4 SHH NOG GLI3 EFTUD2
14 patent ductus arteriosus 1 30.4 TEF FOXF1 CHD7
15 townes-brocks syndrome 30.4 SHH GLI3 CHD7
16 synostosis 30.2 SHH NOG GLI3
17 tetralogy of fallot 30.2 TEF SHH LPP CHD7
18 pancreas, annular 30.2 TEF SHH FOXF1
19 charge syndrome 30.1 TEF SOX2 SHH GLI3 EFTUD2 CHD7
20 pallister-hall syndrome 30.1 SHH GLI3 GLI2 FOXF1
21 fanconi anemia, complementation group d2 30.1 FANCG FANCB FANCA
22 holoprosencephaly 30.0 SHH NOG GLI3 GLI2
23 anus, imperforate 30.0 TEF SHH GLI3 GLI2 FOXF1 FANCB
24 cleft palate, isolated 29.8 SHH NOG GLI3 GLI2 EFTUD2
25 coloboma of macula 29.8 SOX2 SIX6 SHH GLI3 GLI2 EFTUD2
26 fanconi anemia, complementation group e 29.7 FANCG FANCE FANCC FANCA
27 fanconi anemia, complementation group f 29.7 FANCG FANCE FANCC FANCA
28 fanconi anemia, complementation group c 29.7 FANCL FANCC FANCB FANCA
29 fanconi anemia, complementation group a 29.2 FANCL FANCG FANCE FANCC FANCB FANCA
30 fanconi anemia, complementation group o 29.0 FANCL FANCG FANCE FANCC FANCB FANCA
31 fanconi anemia, complementation group q 29.0 FANCL FANCG FANCE FANCC FANCB FANCA
32 fanconi anemia, complementation group n 29.0 FANCL FANCG FANCE FANCC FANCB FANCA
33 fanconi anemia, complementation group d1 29.0 FANCL FANCG FANCE FANCC FANCB FANCA
34 fanconi anemia, complementation group j 29.0 FANCL FANCG FANCE FANCC FANCB FANCA
35 fanconi anemia, complementation group p 28.7 FANCL FANCG FANCE FANCC FANCB FANCA
36 anophthalmia esophageal atresia cryptorchidism 12.3
37 esophageal atresia coloboma talipes 12.3
38 mandibulofacial dysostosis, guion-almeida type 11.9
39 vater/vacterl association 11.8
40 arroyo garcia cimadevilla syndrome 11.6
41 cartilage-hair hypoplasia 11.3
42 diarrhea 5, with tufting enteropathy, congenital 11.3
43 anophthalmos with limb anomalies 11.3
44 methimazole antenatal exposure 11.3
45 gastroesophageal reflux 11.0
46 dysphagia 10.8
47 tracheomalacia 10.8
48 esophagitis 10.7
49 polyhydramnios 10.6
50 chromosomal triplication 10.6

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

MGI Mouse Phenotypes related to Esophageal Atresia:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 CHD7 FAAP20 FANCA FANCB FANCC FANCE
2 endocrine/exocrine gland MP:0005379 10.39 CHD7 FAAP20 FANCA FANCB FANCC FANCE
3 growth/size/body region MP:0005378 10.31 CHD7 EFTUD2 FANCA FANCB FANCE FANCL
4 mortality/aging MP:0010768 10.28 CHD7 EFTUD2 FANCA FANCL FOXF1 GLI2
5 homeostasis/metabolism MP:0005376 10.27 CHD7 EFTUD2 FANCA FANCB FANCL GLI2
6 embryo MP:0005380 10.26 CHD7 EFTUD2 FANCA FANCL FOXF1 GLI2
7 reproductive system MP:0005389 10.22 CHD7 EFTUD2 FAAP20 FANCA FANCB FANCC
8 digestive/alimentary MP:0005381 10.19 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
9 craniofacial MP:0005382 10.15 CHD7 FANCA GLI2 GLI3 MYCN NOG
10 hearing/vestibular/ear MP:0005377 9.95 CHD7 GLI2 GLI3 NOG SHH SOX2
11 muscle MP:0005369 9.95 CHD7 FOXF1 GLI2 MYCN NOG SHH
12 no phenotypic analysis MP:0003012 9.91 FANCG GLI2 GLI3 MYCN PI4KA SHH
13 respiratory system MP:0005388 9.86 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
14 skeleton MP:0005390 9.85 CHD7 FANCA FANCC FANCL GLI2 GLI3
15 vision/eye MP:0005391 9.28 CHD7 FANCA GLI2 GLI3 MYCN NOG
16 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Antacids Phase 3
3 Anti-Ulcer Agents Phase 3
4 Gastrointestinal Agents 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
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
11
Ropivacaine Approved 84057-95-4 71273 175805
12
Budesonide Approved 51333-22-3 63006 5281004
13 Chlorhexidine gluconate
14 Anesthetics, Local
15 Respiratory System Agents
16 Anesthetics
17 Hormones
18 Hormone Antagonists
19 Anti-Asthmatic Agents
20 glucocorticoids
21 Anti-Inflammatory Agents
22 Bronchodilator Agents
23 Ranitidine bismuth citrate
24 Histamine H2 Antagonists

Interventional clinical trials:

(show all 33)
# 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 Relevance of Gastric Aspirate in HCMV Detection Unknown status NCT03262194
9 Frequency of Occurrence of Dumping Syndrome After Operation of Esophageal Atresia Type III Completed NCT02525705
10 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
11 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
12 Concerns of Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
13 Prevalence of Barrett's Esophagus in Adolescents and Young Adults With Esophageal Atresia Completed NCT02495051
14 Chewing Function in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
15 High-resolution Esophageal Manometry in Teenagers With Esophageal Atresia Completed NCT03415893
16 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
17 Esaphageal Balloon Dilatation in Children: Hemodynamic , Ventilatory Changes and Complications Completed NCT02512770
18 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
19 Pilot Study on Sham Feeding in Post-operative Gastrointestinal Surgery Infants Completed NCT03350022
20 National Register of Oesophageal Atresia Recruiting NCT02883725
21 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Recruiting NCT03615495
22 Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period Recruiting NCT04072419
23 Examination of the Cardiorespiratory Performance Capacity and Pulmonary Microbiome in Patients Following Surgical Repair of Esophageal Atresia Recruiting NCT03767673
24 Blood Ropivacaine Concentrations Following Paravertebral Nerve Block and Continuous Infusion in Infants and Toddlers Undergoing Staged Esophageal Atresia Repair Recruiting NCT02860091 Ropivacaine infusion
25 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
26 Psychosocial Situation of Children With Rare (Congenital) Pediatric Surgical Diseases and Their Families Recruiting NCT04382820
27 A Mixed Methods Exploration of Early Feeding in Children Born With Oesophageal Atresia/Trache-oesophageal Fistula. Not yet recruiting NCT04183621
28 Evaluation of the Respiratory Impact of Post-operative Chest Wall Anomalies After Conventional or Minimally Invasive Esophageal Atresia Surgery Not yet recruiting NCT04136795
29 Endoscopic Ultrasound Findings in Esophageal Atresia Following Surgical Repair Not yet recruiting NCT04259528
30 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
31 Management of Esophagitis Following Repair of Esophageal Atresia Not yet recruiting NCT03619408 Antacids
32 Assessment of Feeding and Eating Disorders of Young Children : Standardisation of a New Tool, the Hetero-questionnaire Named ORALQUEST Not yet recruiting NCT04133038
33 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, Trachea, Heart, Testes, Brain, Pancreas

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 3800)
# 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
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 61
32382369 2020
3
Scoliosis after thoracotomy repair of esophageal atresia: a systematic review. 61
32451635 2020
4
Breathing pattern disorders (dysfunctional breathing) characteristics and outcomes of children and young people attending a secondary care respiratory clinic. 61
32449843 2020
5
Outcomes for Correction of Long-Gap Esophageal Atresia: A 22-Year Experience. 61
32113037 2020
6
The value of prophylactic chest tubes in tracheoesophageal fistula repair. 61
32377785 2020
7
Diagnosis and management of complete tracheal rings with concurrent tracheoesophageal fistula. 61
32179205 2020
8
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. 61
32250545 2020
9
Association Between Administration of Antacid Medication and Anastomotic Stricture Formation After Repair of Esophageal Atresia. 61
32521372 2020
10
Quality of life was similar in children with congenital diaphragmatic hernia and oesophageal atresia and related to respiratory morbidity. 61
32567053 2020
11
Impact of consolidation of cases on post-operative outcomes for index pediatric surgery cases. 61
32173118 2020
12
Esophageal atresia type C with overlapping long upper pouch: A rare variant. 61
32553938 2020
13
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia. 61
32573094 2020
14
Genetic mouse models and induced pluripotent stem cells for studying tracheal-esophageal separation and esophageal development. 61
32515280 2020
15
Assessment of the Concerns of Caregivers of Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula Related to Feeding-Swallowing Difficulties. 61
31410568 2020
16
Low gestational age is associated with less anastomotic complications after open primary repair of esophageal atresia with tracheoesophageal fistula. 61
32493241 2020
17
[Antenatal ultrasound prediction of esophageal atresia type]. 61
32522613 2020
18
Early Management of Esophageal Leak in Esophageal Atresia: Changing Paradigms. 61
32552247 2020
19
Characterization of Esophageal Motility in Children with Operated Esophageal Atresia Using High-Resolution Impedance Manometry and Pressure Flow Analysis. 61
32541198 2020
20
End-User Input into the Design and Validation of a Synthetic Thoracoscopic Esophageal Atresia/Tracheo-Esophageal Fistula Simulator. 61
32348697 2020
21
Frequency of Abnormal Glucose Tolerance Test Suggestive of Dumping Syndrome Following Oesophageal Atresia Repair. 61
32443041 2020
22
Bronchopulmonary and vascular anomalies are frequent in children with oesophageal atresia. 61
31710383 2020
23
Sex differences in surgically correctable congenital anomalies: A systematic review. 61
32061363 2020
24
Delayed Diagnosis in Esophageal Atresia and Tracheoesophageal Fistula: Case Study. 61
32384331 2020
25
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia. 61
32298054 2020
26
Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistula. 61
32415337 2020
27
Nationwide analysis of mortality and hospital readmissions in esophageal atresia. 61
32061361 2020
28
Magnamosis for esophageal atresia is associated with anastomotic strictures requiring an increased number of dilatations. 61
32061365 2020
29
Health-Related Quality of Life in Patients after Repair of Esophageal Atresia: A Review of Current Literature. 61
32483796 2020
30
A Continuous Suture Anastomosis Outperforms a Simple Interrupted Suture Anastomosis in Esophageal Elongation. 61
32422674 2020
31
Esophageal Atresia: Associated Anomalies, Mortality, and Morbidity in Jordan. 61
32432365 2020
32
Recurrent Tracheitis Due to Acquired Esophageal Atresia. 61
32425072 2020
33
Noggin regulates foregut progenitor cell programming and mis-expression leads to esophageal atresia. 61
32427591 2020
34
Repair of oesophageal atresia by consultants and supervised trainees results in similar outcomes. 61
32436786 2020
35
Prognostic value of prenatally detected small or absent fetal stomach with particular reference to oesophageal atresia. 61
31744858 2020
36
Parental feeding concerns of infants and young children with oesophageal atresia. 61
32463154 2020
37
Utility of repeated therapeutic endoscopies for pediatric esophageal anastomotic strictures. 61
32462191 2020
38
Esophageal atresia and tracheoesophageal fistula: prenatal sonographic Manifestation from early to late pregnancy. 61
32304613 2020
39
Multi-layered Free-form 3D Cell-printed Tubular Construct with Decellularized Inner and Outer Esophageal Tissue-derived Bioinks. 61
32350326 2020
40
Thoracoscopic repair of esophageal atresia with distal tracheoesophageal fistula: is it a safe procedure in infants weighing less than 2000 g? 61
32323019 2020
41
Thoracoscopic surgery for recurrent tracheoesophageal fistula after esophageal atresia repair. 61
32322874 2020
42
Evaluation of nebulized N-acetyl cysteine in outcome of esophageal atresia with tracheoesophegeal fistula. 61
32467034 2020
43
The functional chewing training for chewing dysfunction in children with repaired EA-TEF. 61
31109732 2020
44
Thoracoscopic approach for complications after esophageal atresia repair: initial experience. 61
31066217 2020
45
Predictors of Mortality after Primary Discharge from Hospital in Patients with Esophageal Atresia. 61
31952847 2020
46
The Current Thoracoscopic Management of Esophageal Atresia. 61
32146717 2020
47
Novel approach for the dissection of upper pouch during primary repair of esophageal atresia with tracheoesophageal fistula: Technique and results. 61
31706617 2020
48
Eosinophilic esophagitis in esophageal atresia: Tertiary care experience of a "selective" approach for biopsy sampling. 61
32256942 2020
49
Clinical Analysis of Azygos Vein Preservation Under Thoracoscope in the Operation of Type III Esophageal Atresia. 61
32045333 2020
50
Outcomes in adulthood of gastric transposition for complex and long gap esophageal atresia. 61
31519362 2020

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_001197104.2(KMT2A):c.4816G>C (p.Glu1606Gln)SNV 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 nucleoplasm GO:0005654 9.97 SOX2 MYCN GLI3 GLI2 FANCL FANCG
2 nucleus GO:0005634 9.89 TEF SOX2 SIX6 MYCN LPP GLI3
3 Fanconi anaemia nuclear complex GO:0043240 9.17 FANCL FANCG FANCE FANCC FANCB FANCA

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.27 TEF SOX2 SIX6 SHH MYCN GLI3
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 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 TEF SOX2 SHH NOG MYCN GLI3
5 heart development GO:0007507 10.01 SHH GLI3 GLI2 FOXF1
6 axon guidance GO:0007411 10.01 SHH NOG GLI3 GLI2
7 regulation of cell proliferation GO:0042127 9.99 SHH GLI3 FANCL FANCA
8 cellular response to DNA damage stimulus GO:0006974 9.98 FANCL FANCG FANCE FANCC FANCB FANCA
9 in utero embryonic development GO:0001701 9.97 NOG GLI3 GLI2 FOXF1 CHD7
10 negative regulation of canonical Wnt signaling pathway GO:0090090 9.96 SOX2 SHH NOG GLI3
11 central nervous system development GO:0007417 9.95 SHH NOG GLI3 CHD7
12 kidney development GO:0001822 9.9 SHH GLI3 GLI2
13 anterior/posterior pattern specification GO:0009952 9.9 SHH GLI3 GLI2
14 osteoblast differentiation GO:0001649 9.9 SOX2 NOG GLI2
15 forebrain development GO:0030900 9.88 SOX2 SHH GLI3
16 lung development GO:0030324 9.88 SHH GLI3 GLI2 FOXF1
17 roof of mouth development GO:0060021 9.87 SHH GLI3 CHD7
18 DNA repair GO:0006281 9.87 FANCL FANCG FANCE FANCC FANCB FANCA
19 camera-type eye development GO:0043010 9.86 SHH GLI3 CHD7
20 negative regulation of cell differentiation GO:0045596 9.86 SHH NOG GLI3
21 odontogenesis of dentin-containing tooth GO:0042475 9.85 SHH GLI3 GLI2
22 inner ear development GO:0048839 9.84 SOX2 SHH GLI3
23 neural tube development GO:0021915 9.83 NOG GLI3 GLI2
24 smoothened signaling pathway GO:0007224 9.83 SHH GLI3 GLI2 FOXF1
25 anatomical structure development GO:0048856 9.81 SIX6 SHH GLI3 GLI2
26 embryonic digit morphogenesis GO:0042733 9.8 SHH NOG GLI3 GLI2
27 pituitary gland development GO:0021983 9.78 SOX2 NOG GLI2
28 pattern specification process GO:0007389 9.78 SHH NOG GLI3 GLI2
29 developmental growth GO:0048589 9.77 SHH GLI3 GLI2
30 branching morphogenesis of an epithelial tube GO:0048754 9.77 SHH GLI3 GLI2
31 spinal cord motor neuron differentiation GO:0021522 9.75 SHH GLI3 GLI2
32 embryonic morphogenesis GO:0048598 9.73 SHH GLI3
33 osteoblast development GO:0002076 9.73 SHH GLI2
34 lung morphogenesis GO:0060425 9.73 SHH NOG FOXF1
35 epithelial tube branching involved in lung morphogenesis GO:0060441 9.72 SHH FOXF1
36 somite development GO:0061053 9.72 SHH NOG
37 prostate gland development GO:0030850 9.72 SHH GLI3
38 dorsal/ventral neural tube patterning GO:0021904 9.72 SHH GLI2
39 embryonic digestive tract development GO:0048566 9.72 GLI3 GLI2 FOXF1
40 negative thymic T cell selection GO:0045060 9.71 SHH GLI3
41 positive regulation of alpha-beta T cell differentiation GO:0046638 9.71 SHH GLI3
42 embryonic digestive tract morphogenesis GO:0048557 9.71 SHH GLI3 FOXF1
43 limb development GO:0060173 9.71 SHH NOG GLI3 CHD7
44 positive regulation of T cell differentiation in thymus GO:0033089 9.7 SHH GLI2
45 artery development GO:0060840 9.7 SHH GLI3
46 embryonic foregut morphogenesis GO:0048617 9.7 SHH FOXF1
47 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.68 GLI3 GLI2
48 lung lobe morphogenesis GO:0060463 9.68 SHH FOXF1
49 respiratory tube development GO:0030323 9.68 SHH FOXF1
50 dorsal/ventral pattern formation GO:0009953 9.67 SHH NOG GLI3 GLI2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 TEF SOX2 SHH PI4KA NOG MYCN
2 DNA-binding transcription factor activity GO:0003700 9.63 TEF SOX2 MYCN GLI3 GLI2 FOXF1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 SIX6 MYCN GLI3 GLI2 FOXF1 CHD7
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 TEF SOX2 SIX6 MYCN GLI3 GLI2

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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