TEF
MCID: TRC109
MIFTS: 54

Tracheoesophageal Fistula with or Without Esophageal Atresia (TEF)

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Tracheoesophageal Fistula with or Without Esophageal Atresia

MalaCards integrated aliases for Tracheoesophageal Fistula with or Without Esophageal Atresia:

Name: Tracheoesophageal Fistula with or Without Esophageal Atresia 56 52
Tracheoesophageal Fistula 52 29 54 6
Esophageal Atresia 58 71
Esophageal Atresia with or Without Tracheoesophageal Fistula 56
Te Fistula 52
Tef 52

Characteristics:

Orphanet epidemiological data:

58
esophageal atresia
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Neonatal;

OMIM:

56
Inheritance:
probably multifactorial


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 189960
MESH via Orphanet 44 D004933
ICD10 via Orphanet 33 Q39.0 Q39.1
UMLS via Orphanet 72 C0014850
Orphanet 58 ORPHA1199
MedGen 41 C1861028
SNOMED-CT via HPO 68 26179002 95435007
UMLS 71 C0014850

Summaries for Tracheoesophageal Fistula with or Without Esophageal Atresia

NIH Rare Diseases : 52 Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia ). In many cases the cause is unknown but it has been associated with some chromosome disorders . In some cases it may be acquired later in life after a cancer , infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%.

MalaCards based summary : Tracheoesophageal Fistula with or Without Esophageal Atresia, also known as tracheoesophageal fistula, is related to esophageal atresia/tracheoesophageal fistula and esophageal atresia. An important gene associated with Tracheoesophageal Fistula with or Without Esophageal Atresia is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. The drugs Omeprazole and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, trachea and colon, and related phenotypes are tracheoesophageal fistula and clinodactyly

Wikipedia : 74 A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula)... more...

More information from OMIM: 189960

Related Diseases for Tracheoesophageal Fistula with or Without Esophageal Atresia

Diseases related to Tracheoesophageal Fistula with or Without Esophageal Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 428)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 32.5 FANCC BRCA2
2 esophageal atresia 30.9 NOG FANCC
3 fanconi anemia, complementation group f 29.5 FANCC BRCA2
4 fanconi anemia, complementation group q 29.2 PALB2 FANCC
5 fanconi anemia, complementation group o 29.2 PALB2 FANCC
6 fanconi anemia, complementation group p 29.1 PALB2 FANCC
7 fanconi anemia, complementation group a 29.0 PALB2 FANCC BRCA2
8 aplastic anemia 28.7 PALB2 FANCC BRCA2
9 fanconi anemia, complementation group n 28.6 PALB2 FANCC BRCA2
10 fanconi anemia, complementation group d1 28.6 PALB2 FANCC BRCA2
11 fanconi anemia, complementation group j 28.6 PALB2 FANCC BRCA2
12 microphthalmia, syndromic 3 12.4
13 martinez-frias syndrome 12.4
14 anophthalmia esophageal atresia cryptorchidism 12.3
15 esophageal atresia coloboma talipes 12.3
16 mandibulofacial dysostosis, guion-almeida type 11.9
17 mitchell-riley syndrome 11.7
18 feingold syndrome 1 11.6
19 arroyo garcia cimadevilla syndrome 11.6
20 fanconi anemia, complementation group b 11.6
21 major depressive disorder 11.6
22 vacterl association with hydrocephalus 11.6
23 vacterl association, x-linked, with or without hydrocephalus 11.6
24 feingold syndrome 2 11.4
25 cartilage-hair hypoplasia 11.3
26 diarrhea 5, with tufting enteropathy, congenital 11.3
27 anophthalmos with limb anomalies 11.3
28 methimazole antenatal exposure 11.3
29 plasminogen deficiency, type i 11.2
30 cataract 25 11.0
31 chromosome 15q11.2 deletion syndrome 11.0
32 fusariosis 11.0
33 diaphragm disease 11.0
34 rectal disease 11.0
35 anterior scleritis 11.0
36 sclerosing keratitis 11.0
37 dermatomycosis 11.0
38 anus disease 11.0
39 esophageal disease 11.0
40 deep keratitis 11.0
41 esophagitis 10.7
42 polyhydramnios 10.6
43 duodenal atresia 10.6
44 barrett esophagus 10.6
45 diaphragmatic hernia, congenital 10.5
46 anus, imperforate 10.5
47 pneumothorax 10.4
48 esophagitis, eosinophilic, 1 10.4
49 right aortic arch 10.4
50 esophageal cancer 10.4

Graphical network of the top 20 diseases related to Tracheoesophageal Fistula with or Without Esophageal Atresia:



Diseases related to Tracheoesophageal Fistula with or Without Esophageal Atresia

Symptoms & Phenotypes for Tracheoesophageal Fistula with or Without Esophageal Atresia

Human phenotypes related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tracheoesophageal fistula 58 31 Very frequent (99-80%) HP:0002575
2 clinodactyly 58 Occasional (29-5%)
3 muscular hypotonia 58 Very rare (<4-1%)
4 dysphagia 58 Frequent (79-30%)
5 scoliosis 58 Very rare (<4-1%)
6 hearing impairment 58 Very rare (<4-1%)
7 recurrent respiratory infections 58 Frequent (79-30%)
8 abnormal facial shape 58 Very rare (<4-1%)
9 abnormal vertebral morphology 58 Occasional (29-5%)
10 ventricular septal defect 58 Very rare (<4-1%)
11 hypertonia 58 Very rare (<4-1%)
12 gastroesophageal reflux 58 Occasional (29-5%)
13 feeding difficulties in infancy 58 Frequent (79-30%)
14 polyhydramnios 58 Occasional (29-5%)
15 vomiting 58 Frequent (79-30%)
16 cleft palate 58 Very rare (<4-1%)
17 pallor 58 Occasional (29-5%)
18 respiratory distress 58 Occasional (29-5%)
19 restrictive ventilatory defect 58 Frequent (79-30%)
20 morphological abnormality of the gastrointestinal tract 58 Occasional (29-5%)
21 growth delay 58 Occasional (29-5%)
22 failure to thrive in infancy 58 Frequent (79-30%)
23 coarctation of aorta 58 Very rare (<4-1%)
24 choanal atresia 58 Very rare (<4-1%)
25 tetralogy of fallot 58 Very rare (<4-1%)
26 chronic obstructive pulmonary disease 58 Frequent (79-30%)
27 intestinal malrotation 58 Very rare (<4-1%)
28 anorectal anomaly 58 Occasional (29-5%)
29 esophagitis 58 Frequent (79-30%)
30 abnormality of the urinary system 58 Occasional (29-5%)
31 pyloric stenosis 58 Occasional (29-5%)
32 gastrointestinal carcinoma 58 Very rare (<4-1%)
33 aspiration 58 Occasional (29-5%)
34 omphalocele 58 Very rare (<4-1%)
35 esophageal atresia 31 HP:0002032
36 pulmonary hypoplasia 58 Very rare (<4-1%)
37 abnormality of cardiovascular system morphology 58 Occasional (29-5%)
38 maternal diabetes 58 Very rare (<4-1%)
39 immunologic hypersensitivity 58 Frequent (79-30%)
40 renal agenesis 58 Very rare (<4-1%)
41 duodenal atresia 58 Very rare (<4-1%)
42 cyanosis 58 Occasional (29-5%)
43 abnormality of the genitourinary system 58 Occasional (29-5%)
44 vocal cord paresis 58 Occasional (29-5%)
45 abnormality of skeletal muscles 58 Occasional (29-5%)
46 excessive salivation 58 Frequent (79-30%)
47 abnormal external genitalia 58 Very rare (<4-1%)
48 oral aversion 58 Frequent (79-30%)
49 gastrointestinal dysmotility 58 Frequent (79-30%)
50 absence of stomach bubble on fetal sonography 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
G I:
tracheoesophageal fistula
esophageal atresia

Clinical features from OMIM:

189960

GenomeRNAi Phenotypes related to Tracheoesophageal Fistula with or Without Esophageal Atresia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-3 8.96 BRCA2 PALB2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 BRCA2 FANCC PALB2

MGI Mouse Phenotypes related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.26 BRCA2 FANCC NOG PALB2
2 limbs/digits/tail MP:0005371 8.8 BRCA2 NOG PALB2

Drugs & Therapeutics for Tracheoesophageal Fistula with or Without Esophageal Atresia

Drugs for Tracheoesophageal Fistula with or Without Esophageal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Gastrointestinal Agents Phase 3
3 Anti-Ulcer Agents Phase 3
4 Antacids Phase 3
5 Proton Pump Inhibitors Phase 3
6 Fibrin Tissue Adhesive Phase 3
7 Coagulants Phase 3
8 Hemostatics Phase 3
9
Durvalumab Approved, Investigational Phase 2 1428935-60-7
10 Antineoplastic Agents, Immunological Phase 2
11 Antibodies, Monoclonal Phase 2
12 Immunoglobulins Phase 2
13 Immunologic Factors Phase 2
14 Antibodies Phase 2
15
Nitric Oxide Approved 10102-43-9 145068
16
Ropivacaine Approved 84057-95-4 71273 175805
17
Budesonide Approved 51333-22-3 63006 5281004
18
Iodine Approved, Investigational 7553-56-2 807
19
Threonine Approved, Nutraceutical 72-19-5 6288
20 Neurotransmitter Agents
21 Protective Agents
22 Free Radical Scavengers
23 Vasodilator Agents
24 Antioxidants
25 Anesthetics, Local
26 Central Nervous System Depressants
27 Anti-Inflammatory Agents
28 Anesthetics
29 Respiratory System Agents
30 glucocorticoids
31 Anti-Asthmatic Agents
32 Hormone Antagonists
33 Autonomic Agents
34 Bronchodilator Agents
35 Hormones
36 Ranitidine bismuth citrate
37 Histamine H2 Antagonists
38 cadexomer iodine

Interventional clinical trials:

(show all 36)
# 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 Endoscopic Closure of Tracheoesophageal Fistulas With a Cardiac Septal Defect Occluder Terminated NCT01153061 Phase 4
3 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
4 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
5 Swallowing Rehabilitation of Dysphagic Tracheostomized Patients Under Mechanical Ventilation at Intensive Care Unit Unknown status NCT01496924 Phase 2
6 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
7 Durvalumab (MEDI4736) as Maintenance Treatment Following Chemoradiation for Locally Advanced Unresectable Esophageal Squamous Cell Carcinoma (DESC). Not yet recruiting NCT04054518 Phase 2 Durvalumab
8 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Withdrawn NCT03127345 Phase 2 Omegaven;Intralipid
9 A Pilot Study: Evaluating the Safety and Feasibility of Using Autologous Adipose-Derived Stromal Vascular Fraction (SVF) for the Treatment of Aerodigestive Fistulae in Adults Not yet recruiting NCT03792360 Phase 1 SVF (Stromal Vascular Fraction)
10 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
11 Trichloroacetic Acid for Endoscopic Tracho-esophageal Fistula Repair Unknown status NCT01287312
12 Individualized Diagnosis and Treatment for Long Gap Esophageal Atresia Based on the Principle of Biological Growth Under Stress Unknown status NCT03023865
13 Concerns of Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
14 Chewing Function in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
15 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
16 High-resolution Esophageal Manometry in Teenagers With Esophageal Atresia Completed NCT03415893
17 Prevalence of Barrett's Esophagus in Adolescents and Young Adults With Esophageal Atresia Completed NCT02495051
18 Esaphageal Balloon Dilatation in Children: Hemodynamic , Ventilatory Changes and Complications Completed NCT02512770
19 Frequency of Occurrence of Dumping Syndrome After Operation of Esophageal Atresia Type III Completed NCT02525705
20 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
21 The Changes of Endotracheal Tube Cuff Pressures After Ear, Head and Neck Surgery-Related Positions: A Prospective Observational Study Completed NCT04037553
22 National Register of Oesophageal Atresia Recruiting NCT02883725
23 Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period Recruiting NCT04072419
24 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
25 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Recruiting NCT03615495
26 Examination of the Cardiorespiratory Performance Capacity and Pulmonary Microbiome in Patients Following Surgical Repair of Esophageal Atresia Recruiting NCT03767673
27 Blood Ropivacaine Concentrations Following Paravertebral Nerve Block and Continuous Infusion in Infants and Toddlers Undergoing Staged Esophageal Atresia Repair Recruiting NCT02860091 Ropivacaine infusion
28 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Recruiting NCT03666767
29 Pilot Study on Sham Feeding in Post-operative Gastrointestinal Surgery Infants Active, not recruiting NCT03350022
30 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
31 Evaluation of the Respiratory Impact of Post-operative Chest Wall Anomalies After Conventional or Minimally Invasive Esophageal Atresia Surgery Not yet recruiting NCT04136795
32 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
33 A Mixed Methods Exploration of Early Feeding in Children Born With Oesophageal Atresia/Trache-oesophageal Fistula. Not yet recruiting NCT04183621
34 Management of Esophagitis Following Repair of Esophageal Atresia Not yet recruiting NCT03619408 Antacids
35 The Efficacy and Safety of a Metal Bare Stent With 125I Seeds for the Treatment of Malignant Central Airway Compared to a Metal Bare Stent: A Multicentric Randomized Controlled Study. Not yet recruiting NCT03944408
36 Sonographic Assessment of Cricoid Pressure Not yet recruiting NCT04190524

Search NIH Clinical Center for Tracheoesophageal Fistula with or Without Esophageal Atresia

Genetic Tests for Tracheoesophageal Fistula with or Without Esophageal Atresia

Genetic tests related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

# Genetic test Affiliating Genes
1 Tracheoesophageal Fistula 29

Anatomical Context for Tracheoesophageal Fistula with or Without Esophageal Atresia

MalaCards organs/tissues related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

40
Lung, Trachea, Colon, Heart, Skeletal Muscle, Pancreas, Thyroid

Publications for Tracheoesophageal Fistula with or Without Esophageal Atresia

Articles related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

(show top 50) (show all 2358)
# Title Authors PMID Year
1
Esophageal Atresia/Tracheoesophageal Fistula Overview 61 6
20301753 2009
2
Familial occurrence of esophageal atresia with and without tracheoesophagel fistula: report of two unusual kindreds. 56 61
1877613 1991
3
Familial congenital esophageal atresia. Personal case report and review of the literature. 56 61
6714984 1984
4
Tracheoesophageal fistula in parent and offspring: a rare occurrence. 56 61
7416122 1980
5
Esophageal atresia with tracheoesophageal fistula in mother and child. 61 56
5505694 1970
6
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 56
16299066 2006
7
Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. 56
11182929 2000
8
Two-generation transmission of oesophageal atresia with tracheo-oesophageal fistula. 56
7234408 1981
9
Oesophageal atresia. 3 cases in 2 generations. 56
4765663 1973
10
CONGENITAL ATRESIA OF THE OESOPHAGUS IN TWO BROTHERS. 56
20321441 1939
11
Pediatric Esophageal Dilatations: A Cross-Specialty Experience. 61
31794681 2019
12
Prevalence and Predictive Factors of Histopathological Complications in Children with Esophageal Atresia. 61
30566986 2019
13
Evaluation of Gastroesophageal Reflux in Children Born With Esophageal Atresia Using pH and Impedance Monitoring. 61
31490855 2019
14
Neonatal surgery in low- vs. high-volume institutions: a KID inpatient database outcomes and cost study after repair of congenital diaphragmatic hernia, esophageal atresia, and gastroschisis. 61
31372730 2019
15
Surgical repair of mechanical ventilation induced tracheoesophageal fistula. 61
31705278 2019
16
Tracheoesophageal fistula following button battery ingestion in an infant : Airway management considerations. 61
31624891 2019
17
ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Follow-up and Framework. 61
31777030 2019
18
Thoracoscopy vs. thoracotomy for the repair of esophageal atresia and tracheoesophageal fistula: a systematic review and meta-analysis. 61
31359222 2019
19
Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. 61
31436871 2019
20
Ventilation Failure due to Endotracheal Tube Migration Into a Tracheal Pouch in a Toddler With a Repaired Tracheoesophageal Fistula: A Case Report. 61
31770133 2019
21
Repair of adult benign tracheoesophageal fistulae with absorbable patches: single-center experience. 61
31760058 2019
22
Outcomes of tracheoesophageal puncture in twice-radiated patients. 61
31445930 2019
23
Critical design and validation considerations for the development of neonatal minimally invasive surgery simulators. 61
31213289 2019
24
Thoracoscopic Posterior Tracheopexy Is a Feasible and Effective Treatment for Tracheomalacia. 61
31219396 2019
25
Analysis of Endoscopy Intervention in Postesophagectomy Anastomotic Leak: A Retrospective Study. 61
30071560 2019
26
Thoracoscopic versus conventional open repair of tracheoesophageal fistula in neonates: A short-term comparative study. 61
31785836 2019
27
Endoscopic closure of a 6-cm long esophageal defect with tracheoesophageal fistula. 61
31121618 2019
28
Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula. 61
31103274 2019
29
Endoscopically assisted transstomal primary repair of an acquired tracheoesophageal fistula. 61
30575042 2019
30
Tracheoesophageal Fistula due to Prolonged Mechanical Ventilation. 61
31640901 2019
31
Thoracoscopy in pediatrics: Surgical perspectives. 61
31620207 2019
32
Tracheostomy: Experience at Tertiary Hospital. 61
31742024 2019
33
Outcome of Declined Neonatal Surgical Referrals at Cairo University Specialized Pediatric Hospital. 61
31676080 2019
34
Outcome of Care Provided in Neonatal Surgery Intensive Care Unit of a Public Sector Tertiary Care Teaching Hospital of India. 61
31571756 2019
35
VACTERL association complicated with multiple airway abnormalities: A case report. 61
31626096 2019
36
Prediction of Gap Length by Plain Radiograph of Chest with Nasogastric Tube in the Upper Esophagus in Patients with Esophageal Atresia and Distal Tracheoesophageal Fistula. 61
31571760 2019
37
Successful Closure of a Benign Refractory Tracheoesophageal Fistula Using an Over-the-Scope Clip after Failed Esophageal Stent Placement and Surgical Management. 61
31657194 2019
38
Novel Approach for the Dissection of Upper Pouch during Primary Repair of Esophageal Atresia with Tracheoesophageal Fistula: Technique and Results. 61
31706617 2019
39
Bronchoendoscopic Repair of Tracheoesophageal Fistula. 61
30973758 2019
40
The Pediatric Surgical Team: a Model for Increased Surgeon Index Case Exposure. 61
30765153 2019
41
Successful treatment of tracheoesophageal fistula using a covered esophageal stent. 61
29761794 2019
42
An Unusual Lung Mass of Heterotopic Pancreatic Tissue in a Neonate With an Elevated Immunoreactive Trypsinogen on Newborn Screen. 61
31514577 2019
43
Tyrosine Kinase Inhibitor Use and Wound Healing in Tracheoesophageal Punctures. 61
30974994 2019
44
Fatality Due to Button Battery Lodgment in the Upper Digestive Tract of a Neonate: An Unusual Presentation. 61
31246582 2019
45
[Interventional treatment of tracheoesophageal/bronchoesophageal fistulas]. 61
31240352 2019
46
The DATE Association: A Separate Entity or a Further Extension of the VACTERL Association? 61
31022678 2019
47
Novel magnetic compression technique for establishment of a canine model of tracheoesophageal fistula. 61
31435174 2019
48
Vocal cord dysfunction following esophageal atresia and tracheoesophageal fistula (EA/TEF) repair. 61
30274710 2019
49
Neural monitoring during H-type tracheoesophageal fistula division: A way to decrease recurrent laryngeal nerve injury? 61
30594308 2019
50
Mandibulofacial dysostosis with microcephaly: a syndrome to remember. 61
31413053 2019

Variations for Tracheoesophageal Fistula with or Without Esophageal Atresia

ClinVar genetic disease variations for Tracheoesophageal Fistula with or Without Esophageal Atresia:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter)SNV Pathogenic 38099 rs80358972 13:32930609-32930609 13:32356472-32356472
2 46;XY;t(15;17)(q24;q21.3)dnTranslocation Pathogenic 267840
3 46;XY;t(6;8)(q13;q13)dnTranslocation Pathogenic 267897
4 BRCA2 NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=)SNV Pathogenic 38215 rs28897756 13:32954050-32954050 13:32379913-32379913
5 BRCA2 NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter)SNV Pathogenic 37989 rs41293497 13:32914174-32914174 13:32340037-32340037
6 PALB2 NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)SNV Pathogenic 128144 rs118203998 16:23614792-23614792 16:23603471-23603471
7 PALB2 NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter)SNV Pathogenic 128117 rs180177100 16:23646627-23646627 16:23635306-23635306
8 BRCA2 NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter)SNV Pathogenic 51952 rs80358814 13:32914349-32914349 13:32340212-32340212
9 BRCA2 NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter)SNV Pathogenic 51129 rs80358435 13:32893291-32893291 13:32319154-32319154
10 FANCC NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)SNV Pathogenic/Likely pathogenic 12047 rs104886457 9:97864024-97864024 9:95101742-95101742
11 PALB2 NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)SNV Conflicting interpretations of pathogenicity 126681 rs180177125 16:23635391-23635391 16:23624070-23624070
12 PALB2 NM_024675.3(PALB2):c.11C>T (p.Pro4Leu)SNV Conflicting interpretations of pathogenicity 126593 rs45619737 16:23652468-23652468 16:23641147-23641147
13 BRCA2 NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met)SNV Conflicting interpretations of pathogenicity 96854 rs80358989 13:32931886-32931886 13:32357749-32357749
14 BRCA2 NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr)SNV Conflicting interpretations of pathogenicity 52256 rs80358930 13:32929041-32929041 13:32354904-32354904
15 BRIP1 NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter)SNV Conflicting interpretations of pathogenicity 4738 rs137852986 17:59793412-59793412 17:61716051-61716051

Expression for Tracheoesophageal Fistula with or Without Esophageal Atresia

Search GEO for disease gene expression data for Tracheoesophageal Fistula with or Without Esophageal Atresia.

Pathways for Tracheoesophageal Fistula with or Without Esophageal Atresia

GO Terms for Tracheoesophageal Fistula with or Without Esophageal Atresia

Biological processes related to Tracheoesophageal Fistula with or Without Esophageal Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.43 PALB2 FANCC BRCA2
2 in utero embryonic development GO:0001701 9.4 PALB2 NOG
3 DNA recombination GO:0006310 9.37 PALB2 BRCA2
4 double-strand break repair via homologous recombination GO:0000724 9.32 PALB2 BRCA2
5 nucleotide-excision repair GO:0006289 9.16 FANCC BRCA2
6 DNA repair GO:0006281 9.13 PALB2 FANCC BRCA2
7 inner cell mass cell proliferation GO:0001833 8.62 PALB2 BRCA2

Sources for Tracheoesophageal Fistula with or Without 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
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