MCID: ESP020
MIFTS: 59

Esophageal Atresia

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Esophageal Atresia

Summaries for Esophageal Atresia

GARD : 20 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.

MalaCards based summary : Esophageal Atresia, also known as congenital imperforate esophagus, is related to esophageal atresia/tracheoesophageal fistula and microphthalmia, syndromic 3. 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 Ectoderm Differentiation. The drugs Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include trachea, heart and colon, and related phenotypes are tracheoesophageal fistula and dysphagia

Wikipedia : 73 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 344)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 33.2 SOX2 GLI3 EFTUD2
2 microphthalmia, syndromic 3 32.9 SOX2 SIX6 SHH FOXF1 CHD7
3 tracheoesophageal fistula with or without esophageal atresia 32.7 FANCC EFTUD2
4 vater/vacterl association 32.3 FOXF1 FANCL
5 feingold syndrome 1 31.5 SOX2 SHH MYCN GLI3 FOXF1 EFTUD2
6 vacterl association 31.5 SHH LPP FOXF1 FANCL FANCB CHD7
7 duodenal atresia 31.3 SHH MYCN FOXF1
8 diaphragmatic hernia, congenital 31.1 SHH GLI3 FOXF1
9 fanconi anemia, complementation group b 31.0 FANCL FANCG FANCE FANCC FANCB FANCA
10 pyloric stenosis 30.9 TENT5A FOXF1 CHD7
11 choanal atresia, posterior 30.7 TCOF1 EFTUD2 CHD7
12 anus, imperforate 30.6 SHH GLI3 GLI2 FOXF1 FANCB CHD7
13 microphthalmia 30.6 SOX2 SIX6 SHH GLI2 CHD7
14 microtia 30.5 TCOF1 EFTUD2
15 charge syndrome 30.5 TCOF1 SOX2 GLI3 EFTUD2 CHD7
16 pancreas, annular 30.4 SHH FOXF1
17 sox2 disorder 30.3 SOX2 SIX6
18 dysostosis 30.3 TCOF1 NOG GLI3 EFTUD2
19 townes-brocks syndrome 30.3 SHH GLI3 CHD7
20 hemimelia 30.3 GLI3 GLI2
21 renal hypodysplasia/aplasia 1 30.2 SHH FOXF1 CHD7
22 treacher collins syndrome 1 30.1 TCOF1 EFTUD2 CHD7
23 synostosis 30.0 SHH NOG GLI3
24 coloboma of macula 29.9 TCOF1 SOX2 SIX6 SHH EFTUD2 CHD7
25 microcephaly 29.7 TCOF1 SHH MYCN GLI2 FANCE FANCA
26 holoprosencephaly 29.7 SOX2 SIX6 SHH NOG GLI3 GLI2
27 cleft palate, isolated 29.6 TCOF1 SHH NOG GLI3 GLI2 EFTUD2
28 fanconi anemia, complementation group a 29.2 FANCL FANCG FANCE FANCC FANCB FANCA
29 mandibulofacial dysostosis, guion-almeida type 11.4
30 anophthalmia esophageal atresia cryptorchidism 11.1
31 esophageal atresia coloboma talipes 11.1
32 arroyo garcia cimadevilla syndrome 11.1
33 cartilage-hair hypoplasia 11.1
34 diarrhea 5, with tufting enteropathy, congenital 11.1
35 anophthalmos with limb anomalies 11.1
36 methimazole antenatal exposure 11.1
37 gastroesophageal reflux 11.0
38 dysphagia 10.8
39 tracheomalacia 10.8
40 esophagitis 10.7
41 polyhydramnios 10.6
42 barrett esophagus 10.6
43 chromosomal triplication 10.6
44 pneumothorax 10.5
45 scoliosis 10.4
46 down syndrome 10.4
47 esophagitis, eosinophilic, 1 10.4
48 aspiration pneumonia 10.4
49 esophageal cancer 10.4
50 right aortic arch 10.4

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 failure to thrive in infancy 31 frequent (33%) HP:0001531
7 immunologic hypersensitivity 31 frequent (33%) HP:0100326
8 oral aversion 31 frequent (33%) HP:0012523
9 restrictive ventilatory defect 31 frequent (33%) HP:0002091
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 scoliosis 31 very rare (1%) HP:0002650
32 hearing impairment 31 very rare (1%) HP:0000365
33 abnormal facial shape 31 very rare (1%) HP:0001999
34 hypertonia 31 very rare (1%) HP:0001276
35 cleft palate 31 very rare (1%) HP:0000175
36 coarctation of aorta 31 very rare (1%) HP:0001680
37 choanal atresia 31 very rare (1%) HP:0000453
38 tetralogy of fallot 31 very rare (1%) HP:0001636
39 ventricular septal defect 31 very rare (1%) HP:0001629
40 intestinal malrotation 31 very rare (1%) HP:0002566
41 gastrointestinal carcinoma 31 very rare (1%) HP:0002672
42 omphalocele 31 very rare (1%) HP:0001539
43 maternal diabetes 31 very rare (1%) HP:0009800
44 pulmonary hypoplasia 31 very rare (1%) HP:0002089
45 duodenal atresia 31 very rare (1%) HP:0002247
46 renal agenesis 31 very rare (1%) HP:0000104
47 coloboma 31 very rare (1%) HP:0000589
48 laryngeal cleft 31 very rare (1%) HP:0008751
49 abnormal external genitalia 31 very rare (1%) HP:0000811
50 barrett esophagus 31 very rare (1%) HP:0100580

MGI Mouse Phenotypes related to Esophageal Atresia:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.48 CHD7 FAAP20 FANCA FANCB FANCC FANCE
2 endocrine/exocrine gland MP:0005379 10.42 CHD7 FAAP20 FANCA FANCB FANCC FANCE
3 growth/size/body region MP:0005378 10.35 CHD7 EFTUD2 FANCA FANCB FANCE FANCL
4 embryo MP:0005380 10.29 CHD7 EFTUD2 FANCA FANCL FOXF1 GLI2
5 reproductive system MP:0005389 10.28 CHD7 EFTUD2 FAAP20 FANCA FANCB FANCC
6 homeostasis/metabolism MP:0005376 10.25 CHD7 EFTUD2 FANCA FANCB FANCL GLI2
7 craniofacial MP:0005382 10.24 CHD7 FANCA GLI2 GLI3 MYCN NOG
8 mortality/aging MP:0010768 10.21 CHD7 EFTUD2 FANCA FANCL FOXF1 GLI2
9 digestive/alimentary MP:0005381 10.18 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
10 limbs/digits/tail MP:0005371 10.01 CHD7 GLI2 GLI3 MYCN NOG SHH
11 hearing/vestibular/ear MP:0005377 10 CHD7 GLI2 GLI3 NOG SHH SOX2
12 skeleton MP:0005390 9.93 CHD7 FANCA FANCC FANCL GLI2 GLI3
13 respiratory system MP:0005388 9.91 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
14 vision/eye MP:0005391 9.32 CHD7 FANCA GLI2 GLI3 MYCN NOG
15 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 18)
# 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
Ranitidine Approved, Withdrawn 66357-59-3, 66357-35-5, 82530-72-1 3001055
7
Nitric Oxide Approved 10102-43-9 145068
8
Budesonide Approved 51333-22-3 63006 5281004
9 Ranitidine bismuth citrate
10 Histamine H2 Antagonists
11 Respiratory System Agents
12 Anti-Asthmatic Agents
13 Anesthetics
14 Hormones
15 Hormone Antagonists
16 glucocorticoids
17 Anti-Inflammatory Agents
18 Bronchodilator Agents

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Multi-Center Randomized Trial of Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair Unknown status 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 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Withdrawn NCT03127345 Phase 2 Omegaven;Intralipid
4 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
5 Management of Esophagitis Following Repair of Esophageal Atresia Unknown status NCT03619408 Antacids
6 Examination of the Cardiorespiratory Performance Capacity and Pulmonary Microbiome in Patients Following Surgical Repair of Esophageal Atresia Unknown status NCT03767673
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 High-resolution Esophageal Manometry in Teenagers With Esophageal Atresia Completed NCT03415893
10 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
11 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
12 Prevalence of Barrett's Esophagus in Adolescents and Young Adults With Esophageal Atresia Completed NCT02495051
13 Chewing Function in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
14 Concerns of Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
15 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
16 Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period Recruiting NCT04072419
17 A Mixed Methods Exploration of Early Feeding in Children Born With Oesophageal Atresia/Trache-oesophageal Fistula. Recruiting NCT04183621
18 National Register of Oesophageal Atresia Recruiting NCT02883725
19 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
20 Evaluation of the Respiratory Impact of Post-operative Chest Wall Anomalies After Conventional or Minimally Invasive Esophageal Atresia Surgery Not yet recruiting NCT04136795
21 Physiopathology of Dumping Syndrome in Esophageal Atresia Not yet recruiting NCT04522193
22 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
23 Endoscopic Ultrasound Findings in Esophageal Atresia Following Surgical Repair Not yet recruiting NCT04259528
24 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Suspended NCT03615495

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
Trachea, Heart, Colon, Pancreas, Brain, Kidney, Lung

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 3965)
# Title Authors PMID Year
1
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. 61 54
18983945 2009
2
Response to: Esophageal atresia and tracheoesophageal fistula associated with tetralogy of Fallot: a review of mortality. KM O'Shea, ML Griffiths, KL King, P Losty, M Jones, J Minford, F Murphy. Pediatr Surg Int. 2020 Oct; 36(10):1243-1247. 61
33386444 2021
3
Thoracoscopic repair of esophageal atresia with distal tracheoesophageal fistula: is it a safe procedure in infants weighing less than 2000 g? 61
32323019 2021
4
Esophageal atresia with right aortic arch: An experience of thoracoscopic repair through left thorax. 61
32885582 2021
5
Selective approach to preoperative echocardiography in esophageal atresia. 61
33388963 2021
6
Publication Trends and Global Collaborations on Esophageal Atresia Research: A Bibliometric Study. 61
32146714 2021
7
Closure of residual fistula after esophageal atresia repair in a 5-year-old using endoscopic submucosal dissection of surrounding mucosa. 61
32757194 2021
8
"Hand as foot" teaching method in clinical teaching of neonatal esophageal atresia and esophagotracheal fistula. 61
33640243 2021
9
Esophagus stretch tests: Biomechanics for tissue engineering and possible implications on the outcome of esophageal atresia repairs performed under excessive tension. 61
32816188 2021
10
A Continuous Suture Anastomosis Outperforms a Simple Interrupted Suture Anastomosis in Esophageal Elongation. 61
32422674 2021
11
[Long-term consequences of esophageal atresia; esophageal and lung abnormalities in adulthood]. 61
33720564 2021
12
MicroRNA Levels in Exhaled Breath Condensate of Patients with Esophageal Atresia. 61
32869085 2021
13
Validation of low-cost models for minimal invasive surgery training of congenital diaphragmatic hernia and esophageal atresia. 61
32646664 2021
14
Battery swallow-induced tracheoesophageal fistula in a pediatric patient. 61
33768923 2021
15
Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases. 61
33805876 2021
16
Development of patient specific, realistic, and reusable video assisted thoracoscopic surgery simulator using 3D printing and pediatric computed tomography images. 61
33737647 2021
17
Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. 61
33678342 2021
18
Hypopharyngeal Perforation Mimicking Esophageal Atresia: A Case Report of an Extremely Low Birth Weight Infant Emphasizing the Need for Preoperative Endoscopy. 61
33684085 2021
19
Risk Factors of Early Mortality and Morbidity in Esophageal Atresia With Distal Tracheo-Esophageal Fistula: A Population-Based Cohort Study. 61
33667507 2021
20
A brief comment on pneumothorax during extubation period of esophageal atresia repair. 61
33358584 2021
21
Parent-child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish-German cross-sectional study. 61
33676542 2021
22
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs. 61
33734618 2021
23
Reply - A brief comment on pneumothorax during the extubation period of esophageal atresia repair. 61
33451951 2021
24
Thoracoscopic oesophageal atresia/tracheo-oesophageal fistula (OA/TOF) repair is associated with a higher stricture rate: a single institution's experience. 61
33550454 2021
25
Successful primary repair of oesophageal atresia and distal tracheo-oesophageal fistula in a 525 g neonate, the smallest reported in literature. 61
33753380 2021
26
Study protocol: a multicenter, uncontrolled, open-label study of palivizumab in neonates, infants, and preschool children at high risk of severe respiratory syncytial virus infection. 61
33653291 2021
27
Delayed Diagnosis in Esophageal Atresia and Tracheoesophageal Fistula: Case Study. 61
32384331 2021
28
Staged repair of truncus arteriosus with double aortic arch, tracheoesophageal fistula, and choanal atresia via a multi-disciplinary approach: a case report. 61
33708532 2021
29
Abdominal esophageal banding for esophageal atresia with tracheoesophageal fistula in neonates with severe associated anomalies. 61
33388964 2021
30
Quality of life was similar in children with congenital diaphragmatic hernia and oesophageal atresia and related to respiratory morbidity. 61
32567053 2021
31
Clinician Knowledge of Societal Guidelines on Management of Gastrointestinal Complications in Esophageal Atresia. 61
32932384 2021
32
Accompanied anomalies in anal atresia or tracheo-esophageal fistula: Comparison with or without VACTERL association. 61
33616304 2021
33
Vascular and pulmonary comorbidities in children with congenital EA/TEF. 61
33300304 2021
34
Anxiety and depression in parents of children born with esophageal atresia: An international online survey study. 61
33647549 2021
35
Successful treatment of post chemotherapy esophageal cicatricial atresia in a pediatric patient with anaplastic large cell lymphoma through minimally invasive esophagectomy: a case report. 61
33544280 2021
36
Contemporary outcomes of the Foker process and evolution of treatment algorithms for long-gap Esophageal Atresia. 61
33766420 2021
37
Head circumference in infants undergoing Foker process for long-gap esophageal atresia repair: Call for attention. 61
33722370 2021
38
Parent-Reported Feeding Difficulties among Children Born with Esophageal Atresia: Prevalence and Early Risk Factors. 61
33027836 2021
39
Effect of Posterior Tracheopexy on Risk of Recurrence in Children after Recurrent Tracheo-Esophageal Fistula Repair. 61
33556502 2021
40
Flexible and Expandable Robot for Tissue Therapies - Modeling and Design. 61
32746055 2021
41
Gastric pull-up by the retrosternal route for esophageal replacement: Feasibility in a limited-resource scenario. 61
32439181 2021
42
Quality of life after esophageal replacement in children. 61
32829881 2021
43
Fetal esophageal imaging: Early pregnancy as a window of opportunity. 61
33591583 2021
44
Risk factors for digestive morbidities after esophageal atresia repair. 61
32648144 2021
45
The multidisciplinary management of recurrent tracheoesophageal fistula after esophageal atresia: Experience with 135 cases from a tertiary center. 61
33454083 2021
46
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. 61
32641753 2021
47
Evaluation of Gastroesophageal Reflux Disease 1 Year after Esophageal Atresia Repair: Paradigms Lost from a Single Snapshot? 61
32918920 2021
48
Clinical outcomes following implementation of a management bundle for esophageal atresia with distal tracheoesophageal fistula. 61
33131776 2021
49
Successful thoracoscopic treatment for tracheoesophageal fistula and esophageal atresia of communicating bronchopulmonary foregut malformation group IB with dextrocardia: a case report of VACTERL association. 61
33409676 2021
50
Performance of diagnostic ultrasound to identify causes of hydramnios. 61
32920845 2021

Variations for Esophageal Atresia

ClinVar genetic disease variations for Esophageal Atresia:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 34 genes Complex Pathogenic 638670 GRCh37: 15:22676913-30137106
GRCh38:
2 TENT5A NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg) SNV Likely pathogenic 691346 rs1311215973 GRCh37: 6:82461794-82461794
GRCh38: 6:81752077-81752077
3 TENT5A NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly) SNV Uncertain significance 691347 rs1581992148 GRCh37: 6:82461833-82461833
GRCh38: 6:81752116-81752116
4 IGSF3 NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) SNV Uncertain significance 691355 rs190300523 GRCh37: 1:117142751-117142751
GRCh38: 1:116600129-116600129
5 INSR NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) SNV Uncertain significance 691357 rs1250061465 GRCh37: 19:7122895-7122895
GRCh38: 19:7122884-7122884
6 ITGB1 NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter) SNV Uncertain significance 691359 rs1593853217 GRCh37: 10:33197375-33197375
GRCh38: 10:32908447-32908447
7 KCNA6 NM_002235.3(KCNA6):c.233A>G (p.Asp78Gly) SNV Uncertain significance 691364 rs1591588696 GRCh37: 12:4919440-4919440
GRCh38: 12:4810274-4810274
8 PDE4D NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His) SNV Uncertain significance 691367 rs1580132131 GRCh37: 5:58285695-58285695
GRCh38: 5:58989868-58989868
9 RPGR NM_000328.3(RPGR):c.780G>T (p.Glu260Asp) SNV Uncertain significance 691374 rs1328506002 GRCh37: X:38164042-38164042
GRCh38: X:38304789-38304789
10 SIPA1 NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly) SNV Uncertain significance 691381 rs1590917647 GRCh37: 11:65408759-65408759
GRCh38: 11:65641288-65641288
11 STAT5A NM_001288719.1(STAT5A):c.1189G>A (p.Ala397Thr) SNV Uncertain significance 691386 rs1598364148 GRCh37: 17:40456569-40456569
GRCh38: 17:42304551-42304551
12 TENM2 NM_001080428.3(TENM2):c.3448C>A (p.Leu1150Met) SNV Uncertain significance 691387 rs1581659572 GRCh37: 5:167643859-167643859
GRCh38: 5:168216854-168216854
13 ATP1A3 NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile) SNV Uncertain significance 691412 rs1599713761 GRCh37: 19:42480684-42480684
GRCh38: 19:41976532-41976532
14 ATP6V0A1 NM_001130020.2(ATP6V0A1):c.1361G>A (p.Arg454Gln) SNV Uncertain significance 691414 rs1204448380 GRCh37: 17:40647077-40647077
GRCh38: 17:42495059-42495059
15 C2CD4A NM_207322.3(C2CD4A):c.284A>C (p.His95Pro) SNV Uncertain significance 691415 rs1596557030 GRCh37: 15:62360096-62360096
GRCh38: 15:62067897-62067897
16 CDC27 NM_001256.6(CDC27):c.4A>G (p.Thr2Ala) SNV Uncertain significance 691419 rs62077280 GRCh37: 17:45266535-45266535
GRCh38: 17:47189169-47189169
17 DROSHA NM_013235.5(DROSHA):c.323G>A (p.Arg108Lys) SNV Uncertain significance 691431 rs1580396270 GRCh37: 5:31526717-31526717
GRCh38: 5:31526610-31526610
18 DSCAM NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn) SNV Uncertain significance 691432 rs1601280227 GRCh37: 21:41427708-41427708
GRCh38: 21:40055781-40055781
19 MID2 , LOC101928335 NM_012216.4(MID2):c.1757T>C (p.Ile586Thr) SNV Uncertain significance 691447 rs1602513371 GRCh37: X:107169483-107169483
GRCh38: X:107926253-107926253
20 NAGS NM_153006.3(NAGS):c.1378C>G (p.Leu460Val) SNV Uncertain significance 691450 rs1272126077 GRCh37: 17:42085068-42085068
GRCh38: 17:44007700-44007700
21 WDR13 NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile) SNV Uncertain significance 691467 rs1602147382 GRCh37: X:48460251-48460251
GRCh38: X:48601863-48601863
22 PLK2 NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile) SNV Uncertain significance 691369 rs1579964675 GRCh37: 5:57752879-57752879
GRCh38: 5:58457052-58457052
23 CMIP NM_030629.3(CMIP):c.1196C>G (p.Thr399Ser) SNV Uncertain significance 691425 rs1597258512 GRCh37: 16:81726786-81726786
GRCh38: 16:81693181-81693181
24 TERT NM_198253.3(TERT):c.1185G>T (p.Glu395Asp) SNV Uncertain significance 691457 rs1579596881 GRCh37: 5:1293816-1293816
GRCh38: 5:1293701-1293701
25 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) SNV Uncertain significance 691416 rs1603462691 GRCh37: 12:2795412-2795412
GRCh38: 12:2686246-2686246
26 overlap with 5 genes GRCh37/hg19 15q26.3(chr15:100923767-101626187) copy number loss Uncertain significance 638671 GRCh37: 15:100923767-101626187
GRCh38:
27 KCNN3 NM_002249.6(KCNN3):c.200_202AGC[16] (p.Gln79_Gln80dup) Microsatellite Uncertain significance 682032 rs3831942 GRCh37: 1:154842199-154842200
GRCh38: 1:154869723-154869724
28 GABRG2 NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser) SNV Uncertain significance 691349 rs1581342223 GRCh37: 5:161520881-161520881
GRCh38: 5:162093875-162093875
29 NOTCH1 NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) SNV Uncertain significance 691452 rs1589054568 GRCh37: 9:139393614-139393614
GRCh38: 9:136499162-136499162
30 TCF4 NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) SNV Uncertain significance 468958 rs1556050492 GRCh37: 18:53070717-53070717
GRCh38: 18:55403486-55403486
31 AMBRA1 NM_001267782.2(AMBRA1):c.431C>T (p.Ala144Val) SNV Uncertain significance 691340 rs1565279367 GRCh37: 11:46567274-46567274
GRCh38: 11:46545724-46545724
32 DST NM_015548.5(DST):c.4124C>G (p.Ser1375Ter) SNV Uncertain significance 691344 rs1586153937 GRCh37: 6:56462740-56462740
GRCh38: 6:56597942-56597942
33 TENT5A NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala) SNV Uncertain significance 691345 rs1581992092 GRCh37: 6:82461795-82461795
GRCh38: 6:81752078-81752078

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 10.09 TCOF1 SOX2 SIX6 MYCN LPP GLI3
2 nucleoplasm GO:0005654 9.8 TCOF1 SOX2 MYCN GLI3 GLI2 FANCL
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 65)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.27 SOX2 SIX6 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 by RNA polymerase II GO:0045944 10.18 SOX2 SHH NOG MYCN GLI3 GLI2
4 positive regulation of transcription, DNA-templated GO:0045893 10.15 SOX2 SHH MYCN GLI3 GLI2 FOXF1
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 10 SHH GLI3 FANCL FANCA
8 cellular response to DNA damage stimulus GO:0006974 9.98 FANCL FANCG FANCE FANCC FANCB FANCA
9 negative regulation of canonical Wnt signaling pathway GO:0090090 9.97 SOX2 SHH NOG GLI3
10 in utero embryonic development GO:0001701 9.96 NOG GLI3 GLI2 FOXF1 CHD7
11 central nervous system development GO:0007417 9.94 SHH NOG GLI3 CHD7
12 skeletal system development GO:0001501 9.94 TCOF1 NOG GLI2 CHD7
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 roof of mouth development GO:0060021 9.87 SHH GLI3 CHD7
17 camera-type eye development GO:0043010 9.87 SHH GLI3 CHD7
18 lung development GO:0030324 9.87 SHH GLI3 GLI2 FOXF1
19 DNA repair GO:0006281 9.87 FANCL FANCG FANCE FANCC FANCB FANCA
20 anatomical structure development GO:0048856 9.86 SHH GLI3 GLI2
21 negative regulation of cell differentiation GO:0045596 9.85 SHH NOG GLI3
22 odontogenesis of dentin-containing tooth GO:0042475 9.85 SHH GLI3 GLI2
23 inner ear development GO:0048839 9.84 SOX2 SHH GLI3
24 neural tube development GO:0021915 9.83 NOG GLI3 GLI2
25 smoothened signaling pathway GO:0007224 9.8 SHH GLI3 GLI2 FOXF1
26 pattern specification process GO:0007389 9.78 SHH NOG GLI3 GLI2
27 pituitary gland development GO:0021983 9.77 SOX2 NOG GLI2
28 branching morphogenesis of an epithelial tube GO:0048754 9.77 SHH GLI3 GLI2
29 developmental growth GO:0048589 9.76 SHH GLI3 GLI2
30 embryonic digit morphogenesis GO:0042733 9.76 SHH NOG GLI3 GLI2
31 neuronal stem cell population maintenance GO:0097150 9.74 SOX2 FANCC
32 embryonic morphogenesis GO:0048598 9.73 SHH GLI3
33 hindbrain development GO:0030902 9.73 SHH GLI2
34 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 SHH FOXF1
35 osteoblast development GO:0002076 9.73 SHH GLI2
36 somite development GO:0061053 9.73 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 lung morphogenesis GO:0060425 9.72 SHH NOG 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 positive regulation of T cell differentiation in thymus GO:0033089 9.71 SHH GLI2
43 spinal cord motor neuron differentiation GO:0021522 9.71 SHH GLI3 GLI2
44 limb development GO:0060173 9.71 SHH NOG GLI3 CHD7
45 artery development GO:0060840 9.7 SHH GLI3
46 embryonic foregut morphogenesis GO:0048617 9.7 SHH FOXF1
47 embryonic digestive tract development GO:0048566 9.7 GLI3 GLI2 FOXF1
48 embryonic digestive tract morphogenesis GO:0048557 9.69 SHH GLI3 FOXF1
49 lung lobe morphogenesis GO:0060463 9.68 SHH FOXF1
50 respiratory tube development GO:0030323 9.68 SHH FOXF1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.17 SOX2 SIX6 MYCN GLI3 GLI2 FOXF1

Sources for Esophageal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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