TEF
MCID: TRC109
MIFTS: 55

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 Resolution of D-loop Structures through Holliday Junction Intermediates and BRCA1 Pathway. The drugs Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include lung, trachea and colon, and related phenotypes are tracheoesophageal fistula and hearing impairment

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 433)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 32.6 FANCC BRCA2
2 esophageal atresia 30.3 NOG FANCC EFTUD2
3 fanconi anemia, complementation group f 29.6 FANCC BRCA2
4 dysostosis 29.5 NOG EFTUD2
5 fanconi anemia, complementation group o 29.2 PALB2 FANCC
6 fanconi anemia, complementation group q 29.2 PALB2 FANCC
7 fanconi anemia, complementation group p 29.2 PALB2 FANCC
8 fanconi anemia, complementation group a 29.0 PALB2 FANCC BRCA2
9 fanconi anemia, complementation group n 28.7 PALB2 FANCC BRCA2
10 fanconi anemia, complementation group d1 28.7 PALB2 FANCC BRCA2
11 fanconi anemia, complementation group j 28.7 PALB2 FANCC BRCA2
12 microphthalmia, syndromic 3 12.5
13 anophthalmia esophageal atresia cryptorchidism 12.3
14 esophageal atresia coloboma talipes 12.3
15 martinez-frias syndrome 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 11.5
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 b-lymphoblastic leukemia/lymphoma 11.2
31 cataract 25 11.0
32 fusariosis 11.0
33 diaphragm disease 11.0
34 rectal disease 11.0
35 sclerosing keratitis 11.0
36 dermatomycosis 11.0
37 anus disease 11.0
38 esophageal disease 11.0
39 deep keratitis 11.0
40 esophagitis 10.7
41 polyhydramnios 10.6
42 duodenal atresia 10.6
43 barrett esophagus 10.6
44 diaphragmatic hernia, congenital 10.5
45 anus, imperforate 10.5
46 esophagitis, eosinophilic, 1 10.4
47 pneumothorax 10.4
48 right aortic arch 10.4
49 pulmonary hypoplasia, primary 10.4
50 ige responsiveness, atopic 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 hearing impairment 58 Very rare (<4-1%)
3 muscular hypotonia 58 Very rare (<4-1%)
4 scoliosis 58 Very rare (<4-1%)
5 recurrent respiratory infections 58 Frequent (79-30%)
6 abnormal facial shape 58 Very rare (<4-1%)
7 abnormal vertebral morphology 58 Occasional (29-5%)
8 hypertonia 58 Very rare (<4-1%)
9 gastroesophageal reflux 58 Occasional (29-5%)
10 feeding difficulties in infancy 58 Frequent (79-30%)
11 vomiting 58 Frequent (79-30%)
12 dysphagia 58 Frequent (79-30%)
13 cleft palate 58 Very rare (<4-1%)
14 restrictive ventilatory defect 58 Frequent (79-30%)
15 morphological abnormality of the gastrointestinal tract 58 Occasional (29-5%)
16 growth delay 58 Occasional (29-5%)
17 failure to thrive in infancy 58 Frequent (79-30%)
18 coarctation of aorta 58 Very rare (<4-1%)
19 pallor 58 Occasional (29-5%)
20 chronic obstructive pulmonary disease 58 Frequent (79-30%)
21 choanal atresia 58 Very rare (<4-1%)
22 polyhydramnios 58 Occasional (29-5%)
23 tetralogy of fallot 58 Very rare (<4-1%)
24 ventricular septal defect 58 Very rare (<4-1%)
25 intestinal malrotation 58 Very rare (<4-1%)
26 anorectal anomaly 58 Occasional (29-5%)
27 abnormality of the urinary system 58 Occasional (29-5%)
28 pyloric stenosis 58 Occasional (29-5%)
29 gastrointestinal carcinoma 58 Very rare (<4-1%)
30 omphalocele 58 Very rare (<4-1%)
31 esophageal atresia 31 HP:0002032
32 maternal diabetes 58 Very rare (<4-1%)
33 pulmonary hypoplasia 58 Very rare (<4-1%)
34 respiratory distress 58 Occasional (29-5%)
35 abnormality of cardiovascular system morphology 58 Occasional (29-5%)
36 immunologic hypersensitivity 58 Frequent (79-30%)
37 duodenal atresia 58 Very rare (<4-1%)
38 cyanosis 58 Occasional (29-5%)
39 abnormality of the genitourinary system 58 Occasional (29-5%)
40 renal agenesis 58 Very rare (<4-1%)
41 small for gestational age 58 Occasional (29-5%)
42 vocal cord paresis 58 Occasional (29-5%)
43 oral aversion 58 Frequent (79-30%)
44 excessive salivation 58 Frequent (79-30%)
45 subglottic stenosis 58 Occasional (29-5%)
46 coloboma 58 Very rare (<4-1%)
47 laryngeal cleft 58 Very rare (<4-1%)
48 aspiration 58 Occasional (29-5%)
49 abnormal external genitalia 58 Very rare (<4-1%)
50 abnormality of the ear 58 Very rare (<4-1%)

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-1 9.1 BRCA2 PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.1 BRCA2 PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.1 BRCA2 PALB2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 BRCA2 EFTUD2 NOG PALB2
2 reproductive system MP:0005389 8.92 BRCA2 EFTUD2 FANCC NOG

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 27)
# 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
Durvalumab Approved, Investigational Phase 2 1428935-60-7
10 Antineoplastic Agents, Immunological Phase 2
11
Nitric Oxide Approved 10102-43-9 145068
12
Ropivacaine Approved 84057-95-4 71273 175805
13
Budesonide Approved 51333-22-3 63006 5281004
14
Iodine Approved, Investigational 7553-56-2 807
15
Threonine Approved, Nutraceutical 72-19-5 6288
16 Anesthetics, Local
17 Respiratory System Agents
18 Anesthetics
19 Hormones
20 Hormone Antagonists
21 Anti-Asthmatic Agents
22 glucocorticoids
23 Anti-Inflammatory Agents
24 Bronchodilator Agents
25 Ranitidine bismuth citrate
26 Histamine H2 Antagonists
27 cadexomer iodine

Interventional clinical trials:

(show all 39)
# 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 Pilot Study on Sham Feeding in Post-operative Gastrointestinal Surgery Infants Completed NCT03350022
21 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
22 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
23 The Changes of Endotracheal Tube Cuff Pressures After Ear, Head and Neck Surgery-Related Positions: A Prospective Observational Study Completed NCT04037553
24 National Register of Oesophageal Atresia Recruiting NCT02883725
25 Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period Recruiting NCT04072419
26 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
27 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Recruiting NCT03615495
28 Examination of the Cardiorespiratory Performance Capacity and Pulmonary Microbiome in Patients Following Surgical Repair of Esophageal Atresia Recruiting NCT03767673
29 Blood Ropivacaine Concentrations Following Paravertebral Nerve Block and Continuous Infusion in Infants and Toddlers Undergoing Staged Esophageal Atresia Repair Recruiting NCT02860091 Ropivacaine infusion
30 Psychosocial Situation of Children With Rare (Congenital) Pediatric Surgical Diseases and Their Families Recruiting NCT04382820
31 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
32 Evaluation of the Respiratory Impact of Post-operative Chest Wall Anomalies After Conventional or Minimally Invasive Esophageal Atresia Surgery Not yet recruiting NCT04136795
33 Endoscopic Ultrasound Findings in Esophageal Atresia Following Surgical Repair Not yet recruiting NCT04259528
34 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
35 A Mixed Methods Exploration of Early Feeding in Children Born With Oesophageal Atresia/Trache-oesophageal Fistula. Not yet recruiting NCT04183621
36 Management of Esophagitis Following Repair of Esophageal Atresia Not yet recruiting NCT03619408 Antacids
37 Estimation of Benefit From Regular Versus Leakage-related Exchange of Voice Prosthesis in Patients Post Laryngectomy Considering Complications Rate, Fistula Colonization by Candida Species and Patients Satisfaction Feedback. Not yet recruiting NCT04268459
38 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
39 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 2423)
# 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. 61 56
1877613 1991
3
Familial congenital esophageal atresia. Personal case report and review of the literature. 61 56
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. 56 61
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
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 61
32382369 2020
12
Scoliosis after thoracotomy repair of esophageal atresia: a systematic review. 61
32451635 2020
13
Breathing pattern disorders (dysfunctional breathing) characteristics and outcomes of children and young people attending a secondary care respiratory clinic. 61
32449843 2020
14
Esophageal atresia type C with overlapping long upper pouch: A rare variant. 61
32553938 2020
15
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia. 61
32573094 2020
16
Surgical Closure of Tracheoesophageal Puncture Without a Flap Interposition. 61
32513063 2020
17
Genetic mouse models and induced pluripotent stem cells for studying tracheal-esophageal separation and esophageal development. 61
32515280 2020
18
Assessment of the Concerns of Caregivers of Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula Related to Feeding-Swallowing Difficulties. 61
31410568 2020
19
Low gestational age is associated with less anastomotic complications after open primary repair of esophageal atresia with tracheoesophageal fistula. 61
32493241 2020
20
Association Between Administration of Antacid Medication and Anastomotic Stricture Formation After Repair of Esophageal Atresia. 61
32521372 2020
21
Impact of consolidation of cases on post-operative outcomes for index pediatric surgery cases. 61
32173118 2020
22
The value of prophylactic chest tubes in tracheoesophageal fistula repair. 61
32377785 2020
23
Diagnosis and management of complete tracheal rings with concurrent tracheoesophageal fistula. 61
32179205 2020
24
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. 61
32250545 2020
25
Successful Closure of a Benign Refractory Tracheoesophageal Fistula Using an Over-the-Scope Clip after Failed Esophageal Stent Placement and Surgical Management. 61
31657194 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
[Prosthetic rehabilitation in the head and neck region]. 61
32296865 2020
28
Nationwide analysis of mortality and hospital readmissions in esophageal atresia. 61
32061361 2020
29
Magnamosis for esophageal atresia is associated with anastomotic strictures requiring an increased number of dilatations. 61
32061365 2020
30
Tracheoesophageal fistula in the developing world: are we ready for thoracoscopic repair? 61
32219560 2020
31
Delayed Diagnosis in Esophageal Atresia and Tracheoesophageal Fistula: Case Study. 61
32384331 2020
32
Double Dumon Stents for Persistent Tracheoesophageal Fistula. 61
32485149 2020
33
T4 cervical esophageal cancer cured with modern chemoradiotherapy: A case report. 61
32518786 2020
34
Genetic counseling for fetal gastrointestinal anomalies. 61
32039977 2020
35
The functional chewing training for chewing dysfunction in children with repaired EA-TEF. 61
31109732 2020
36
Evaluation of nebulized N-acetyl cysteine in outcome of esophageal atresia with tracheoesophegeal fistula. 61
32467034 2020
37
Thoracoscopic approach for complications after esophageal atresia repair: initial experience. 61
31066217 2020
38
Repair of Adult Benign Tracheoesophageal Fistulae With Absorbable Patches: Single-Center Experience. 61
31760058 2020
39
Commentary: Custom-printed Y stent in the management of tracheoesophageal fistula following esophagectomy: A new weapon in a difficult fight? 61
32448699 2020
40
Novel approach for the dissection of upper pouch during primary repair of esophageal atresia with tracheoesophageal fistula: Technique and results. 61
31706617 2020
41
The Current Thoracoscopic Management of Esophageal Atresia. 61
32146717 2020
42
Multi-layered Free-form 3D Cell-printed Tubular Construct with Decellularized Inner and Outer Esophageal Tissue-derived Bioinks. 61
32350326 2020
43
Thoracoscopic repair of esophageal atresia with distal tracheoesophageal fistula: is it a safe procedure in infants weighing less than 2000 g? 61
32323019 2020
44
Thoracoscopic surgery for recurrent tracheoesophageal fistula after esophageal atresia repair. 61
32322874 2020
45
Tracheoesophageal fistula associated with bevacizumab after thoracic radiotherapy in non-small cell lung cancer: A case report. 61
32332657 2020
46
Triple Stent Placement for Tracheoesophageal Fistula Closure. 61
32284217 2020
47
Fascia lata: for the repairment of post-intubation tracheoesophageal fistula. 61
32306176 2020
48
Use of a pedicled sternocleidomastoid musculocutaneous flap in a large tracheoesophageal fistula. 61
32353442 2020
49
Esophageal atresia and tracheoesophageal fistula: prenatal sonographic Manifestation from early to late pregnancy. 61
32304613 2020
50
Predictors of Mortality after Primary Discharge from Hospital in Patients with Esophageal Atresia. 61
31952847 2020

Variations for Tracheoesophageal Fistula with or Without Esophageal Atresia

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

6 (show top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 EFTUD2 NM_004247.4(EFTUD2):c.2419del (p.Gln807fs)deletion Pathogenic 916558 17:42930932-42930932 17:44853564-44853564
3 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)SNV Pathogenic 37989 rs41293497 13:32914174-32914174 13:32340037-32340037
4 BRCA2 NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)SNV Pathogenic 38099 rs80358972 13:32930609-32930609 13:32356472-32356472
5 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)SNV Pathogenic 38215 rs28897756 13:32954050-32954050 13:32379913-32379913
6 BRCA2 NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)SNV Pathogenic 51129 rs80358435 13:32893291-32893291 13:32319154-32319154
7 BRCA2 NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)SNV Pathogenic 51952 rs80358814 13:32914349-32914349 13:32340212-32340212
8 PALB2 NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)SNV Pathogenic 128117 rs180177100 16:23646627-23646627 16:23635306-23635306
9 PALB2 NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)SNV Pathogenic 128144 rs118203998 16:23614792-23614792 16:23603471-23603471
10 46;XY;t(15;17)(q24;q21.3)dnTranslocation Pathogenic 267840
11 46;XY;t(6;8)(q13;q13)dnTranslocation Pathogenic 267897
12 FANCC NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)SNV Pathogenic/Likely pathogenic 12047 rs104886457 9:97864024-97864024 9:95101742-95101742
13 KALRN NM_001024660.4(KALRN):c.5395A>G (p.Ser1799Gly)SNV Likely pathogenic 691361 3:124351485-124351485 3:124632638-124632638
14 APC2 NM_005883.3(APC2):c.665T>C (p.Ile222Thr)SNV Likely pathogenic 916556 19:1456100-1456100 19:1456101-1456101
15 GART NM_000819.5(GART):c.1907T>G (p.Leu636Arg)SNV Likely pathogenic 916559 21:34889711-34889711 21:33517404-33517404
16 ITSN1 NM_003024.3(ITSN1):c.4381C>T (p.Arg1461Cys)SNV Likely pathogenic 916563 21:35254586-35254586 21:33882282-33882282
17 PIK3C2G NM_001288772.2(PIK3C2G):c.761+2T>CSNV Likely pathogenic 916567 12:18439865-18439865 12:18286931-18286931
18 SH3KBP1 NM_031892.3(SH3KBP1):c.801G>C (p.Lys267Asn)SNV Likely pathogenic 691378 X:19663519-19663519 X:19645401-19645401
19 UNC13A NM_001080421.2(UNC13A):c.4225G>A (p.Gly1409Ser)SNV Likely pathogenic 691465 19:17732658-17732658 19:17621849-17621849
20 CELSR2 NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser)SNV Likely pathogenic 916557 1:109795559-109795559 1:109252937-109252937
21 PTPN14 NM_005401.5(PTPN14):c.1919G>A (p.Arg640His)SNV Likely pathogenic 916569 1:214557279-214557279 1:214383936-214383936
22 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1379G>A (p.Arg460Gln)SNV Likely pathogenic 916570 1:220364518-220364518 1:220191176-220191176
23 KLHL17 NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu)SNV Likely pathogenic 916564 1:899892-899892 1:964512-964512
24 AMER3 NM_152698.3(AMER3):c.2236C>T (p.Arg746Ter)SNV Likely pathogenic 916554 2:131521881-131521881 2:130764308-130764308
25 GLS NM_014905.5(GLS):c.1940C>T (p.Thr647Ile)SNV Likely pathogenic 916560 2:191827642-191827642 2:190962916-190962916
26 TLR9 NM_017442.3(TLR9):c.548C>G (p.Pro183Arg)SNV Likely pathogenic 916573 3:52257784-52257784 3:52223768-52223768
27 ADD1 NM_176801.2(ADD1):c.1A>G (p.Met1Val)SNV Likely pathogenic 916553 4:2877643-2877643 4:2875916-2875916
28 POLR2B NM_000938.3(POLR2B):c.2123C>T (p.Ala708Val)SNV Likely pathogenic 916568 4:57883376-57883376 4:57017210-57017210
29 WDFY3 NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys)SNV Likely pathogenic 916574 4:85708799-85708799 4:84787646-84787646
30 PCDH1 NM_001278613.2(PCDH1):c.401A>G (p.Glu134Gly)SNV Likely pathogenic 916566 5:141248684-141248684 5:141869119-141869119
31 TECPR1 NM_015395.3(TECPR1):c.2617G>A (p.Asp873Asn)SNV Likely pathogenic 916572 7:97854186-97854186 7:98224874-98224874
32 LURAP1L NM_203403.2(LURAP1L):c.346C>T (p.Arg116Cys)SNV Likely pathogenic 916565 9:12821418-12821418 9:12821419-12821419
33 AP1G2 NM_003917.5(AP1G2):c.464G>A (p.Arg155His)SNV Likely pathogenic 916555 14:24035494-24035494 14:23566285-23566285
34 SMAD6 NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser)SNV Likely pathogenic 916571 15:67073475-67073475 15:66781137-66781137
35 GTF3C1 NM_001520.4(GTF3C1):c.6040C>A (p.Pro2014Thr)SNV Likely pathogenic 916561 16:27473692-27473692 16:27462371-27462371
36 IRF8 NM_002163.4(IRF8):c.814G>A (p.Gly272Arg)SNV Likely pathogenic 916562 16:85952235-85952235 16:85918629-85918629
37 CAMTA1 NM_015215.4(CAMTA1):c.2153A>G (p.Tyr718Cys)SNV Likely pathogenic 691417 1:7724760-7724760 1:7664700-7664700
38 ZAP70 NM_001079.3(ZAP70):c.880C>G (p.Pro294Ala)SNV Likely pathogenic 691471 2:98350049-98350049 2:97733586-97733586
39 CELF3 NM_007185.7(CELF3):c.367G>A (p.Glu123Lys)SNV Likely pathogenic 691420 1:151681735-151681735 1:151709259-151709259
40 SOX2 NM_003106.4(SOX2):c.698C>G (p.Pro233Arg)SNV Likely pathogenic 691384 3:181430846-181430846 3:181713058-181713058
41 TENT5A NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg)SNV Likely pathogenic 691346 6:82461794-82461794 6:81752077-81752077
42 BRIP1 NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)SNV Conflicting interpretations of pathogenicity 4738 rs137852986 17:59793412-59793412 17:61716051-61716051
43 BRCA2 NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr)SNV Conflicting interpretations of pathogenicity 52256 rs80358930 13:32929041-32929041 13:32354904-32354904
44 BRCA2 NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met)SNV Conflicting interpretations of pathogenicity 96854 rs80358989 13:32931886-32931886 13:32357749-32357749
45 PALB2 NM_024675.3(PALB2):c.11C>T (p.Pro4Leu)SNV Conflicting interpretations of pathogenicity 126593 rs45619737 16:23652468-23652468 16:23641147-23641147
46 PALB2 NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)SNV Conflicting interpretations of pathogenicity 126681 16:23635391-23635391 16:23624070-23624070
47 RPGR NM_000328.3(RPGR):c.780G>T (p.Glu260Asp)SNV Uncertain significance 691374 X:38164042-38164042 X:38304789-38304789
48 SLC38A5 NM_033518.4(SLC38A5):c.517C>G (p.Leu173Val)SNV Uncertain significance 691383 X:48321340-48321340 X:48462955-48462955
49 WDR13 NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile)SNV Uncertain significance 691467 X:48460251-48460251 X:48601863-48601863
50 CDC27 NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)SNV Uncertain significance 691419 17:45266535-45266535 17:47189169-47189169

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 PALB2 BRCA2
2
Show member pathways
10.87 FANCC BRCA2
3 10.77 PALB2 FANCC BRCA2

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 DNA recombination GO:0006310 9.37 PALB2 BRCA2
3 DNA repair GO:0006281 9.33 PALB2 FANCC BRCA2
4 double-strand break repair via homologous recombination GO:0000724 9.32 PALB2 BRCA2
5 nucleotide-excision repair GO:0006289 8.96 FANCC BRCA2
6 inner cell mass cell proliferation GO:0001833 8.62 PALB2 BRCA2

Sources for Tracheoesophageal Fistula with or Without Esophageal Atresia

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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32 ICD10
33 ICD10 via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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