TEF
MCID: TRC109
MIFTS: 52

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 57 20
Tracheoesophageal Fistula 20 29 54 6
Esophageal Atresia 58 70
Esophageal Atresia with or Without Tracheoesophageal Fistula 57
Te Fistula 20
Tef 20

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®:

57 (Updated 20-May-2021)
Inheritance:
probably multifactorial


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 189960
MESH via Orphanet 45 D004933
ICD10 via Orphanet 33 Q39.0 Q39.1
UMLS via Orphanet 71 C0014850
Orphanet 58 ORPHA1199
MedGen 41 C1861028
SNOMED-CT via HPO 68 26179002 95435007
UMLS 70 C0014850

Summaries for Tracheoesophageal Fistula with or Without Esophageal Atresia

GARD : 20 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 bap1 tumor predisposition syndrome. An important gene associated with Tracheoesophageal Fistula with or Without Esophageal Atresia is AOPEP (Aminopeptidase O (Putative)), and among its related pathways/superpathways are Homologous DNA Pairing and Strand Exchange and Resolution of D-loop Structures through Holliday Junction Intermediates. The drugs Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include trachea, lung and heart, and related phenotypes are tracheoesophageal fistula and scoliosis

Wikipedia : 73 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 424)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 31.1 EFTUD2 BRCA2 APC2 AP1G2-AS1 AP1G2 AMER3
2 bap1 tumor predisposition syndrome 30.1 PALB2 BRCA2
3 fanconi anemia, complementation group a 29.9 PALB2 FANCC BRIP1 BRCA2 AOPEP
4 aplastic anemia 29.7 PALB2 FANCC BRIP1 BRCA2
5 microphthalmia, syndromic 3 11.8
6 martinez-frias syndrome 11.6
7 mandibulofacial dysostosis, guion-almeida type 11.4
8 vacterl association with hydrocephalus 11.3
9 vacterl association, x-linked, with or without hydrocephalus 11.3
10 major depressive disorder 11.2
11 feingold syndrome 2 11.2
12 mitchell-riley syndrome 11.2
13 anophthalmia esophageal atresia cryptorchidism 11.1
14 esophageal atresia coloboma talipes 11.1
15 arroyo garcia cimadevilla syndrome 11.1
16 feingold syndrome 1 11.1
17 fanconi anemia, complementation group b 11.1
18 cartilage-hair hypoplasia 11.1
19 diarrhea 5, with tufting enteropathy, congenital 11.1
20 anophthalmos with limb anomalies 11.1
21 methimazole antenatal exposure 11.1
22 ametropic amblyopia 10.9
23 esophageal atresia 10.8
24 esophagitis 10.7
25 polyhydramnios 10.6
26 duodenal atresia 10.6
27 barrett esophagus 10.6
28 diaphragmatic hernia, congenital 10.5
29 pneumothorax 10.5
30 anus, imperforate 10.5
31 ige responsiveness, atopic 10.4
32 esophagitis, eosinophilic, 1 10.4
33 right aortic arch 10.4
34 peptic esophagitis 10.4
35 pulmonary hypoplasia, primary 10.4
36 hernia, hiatus 10.4
37 cyanosis, transient neonatal 10.3
38 hypertrophic pyloric stenosis 10.3
39 pyloric stenosis 10.3
40 mediastinitis 10.3
41 tetralogy of fallot 10.3
42 fryns microphthalmia syndrome 10.3
43 microphthalmia 10.3
44 heart septal defect 10.3
45 gastroesophageal reflux 10.3
46 esophageal cancer 10.3
47 down syndrome 10.3
48 vater/vacterl association 10.3
49 aspiration pneumonia 10.3
50 scoliosis 10.3

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 scoliosis 58 Very rare (<4-1%)
3 dysphagia 58 Frequent (79-30%)
4 muscular hypotonia 58 Very rare (<4-1%)
5 hearing impairment 58 Very rare (<4-1%)
6 recurrent respiratory infections 58 Frequent (79-30%)
7 abnormal facial shape 58 Very rare (<4-1%)
8 abnormal vertebral morphology 58 Occasional (29-5%)
9 hypertonia 58 Very rare (<4-1%)
10 gastroesophageal reflux 58 Occasional (29-5%)
11 feeding difficulties in infancy 58 Frequent (79-30%)
12 vomiting 58 Frequent (79-30%)
13 cleft palate 58 Very rare (<4-1%)
14 growth delay 58 Occasional (29-5%)
15 failure to thrive in infancy 58 Frequent (79-30%)
16 coarctation of aorta 58 Very rare (<4-1%)
17 pallor 58 Occasional (29-5%)
18 chronic obstructive pulmonary disease 58 Frequent (79-30%)
19 choanal atresia 58 Very rare (<4-1%)
20 polyhydramnios 58 Occasional (29-5%)
21 tetralogy of fallot 58 Very rare (<4-1%)
22 ventricular septal defect 58 Very rare (<4-1%)
23 intestinal malrotation 58 Very rare (<4-1%)
24 anorectal anomaly 58 Occasional (29-5%)
25 abnormality of the urinary system 58 Occasional (29-5%)
26 pyloric stenosis 58 Occasional (29-5%)
27 gastrointestinal carcinoma 58 Very rare (<4-1%)
28 omphalocele 58 Very rare (<4-1%)
29 esophageal atresia 31 HP:0002032
30 maternal diabetes 58 Very rare (<4-1%)
31 respiratory distress 58 Occasional (29-5%)
32 pulmonary hypoplasia 58 Very rare (<4-1%)
33 abnormality of cardiovascular system morphology 58 Occasional (29-5%)
34 immunologic hypersensitivity 58 Frequent (79-30%)
35 duodenal atresia 58 Very rare (<4-1%)
36 cyanosis 58 Occasional (29-5%)
37 abnormality of the genitourinary system 58 Occasional (29-5%)
38 renal agenesis 58 Very rare (<4-1%)
39 small for gestational age 58 Occasional (29-5%)
40 vocal cord paresis 58 Occasional (29-5%)
41 oral aversion 58 Frequent (79-30%)
42 restrictive ventilatory defect 58 Frequent (79-30%)
43 excessive salivation 58 Frequent (79-30%)
44 subglottic stenosis 58 Occasional (29-5%)
45 coloboma 58 Very rare (<4-1%)
46 morphological abnormality of the gastrointestinal tract 58 Occasional (29-5%)
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®:

57 (Updated 20-May-2021)
G I:
tracheoesophageal fistula
esophageal atresia

Clinical features from OMIM®:

189960 (Updated 20-May-2021)

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 Synthetic lethal with cisplatin GR00101-A-1 8.62 BRCA2 BRIP1

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 21)
# 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
tannic acid Approved 1401-55-4
10
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
11
Threonine Approved, Nutraceutical 72-19-5 6288
12 Ranitidine bismuth citrate
13 Histamine H2 Antagonists
14 Anesthetics
15 Respiratory System Agents
16 Anti-Asthmatic Agents
17 Hormones
18 Hormone Antagonists
19 glucocorticoids
20 Anti-Inflammatory Agents
21 Bronchodilator Agents

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 A Multi-Center Randomized Trial of Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair Unknown status 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 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Withdrawn NCT03127345 Phase 2 Omegaven;Intralipid
5 A Pilot Study: Evaluating the Safety and Feasibility of Using Autologous Adipose-Derived Stromal Vascular Fraction (SVF) for the Treatment of Aerodigestive & Enterocutaneous Fistulae in Adults Recruiting NCT03792360 Phase 1 SVF (Stromal Vascular Fraction)
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 Trichloroacetic Acid for Endoscopic Tracho-esophageal Fistula Repair Unknown status NCT01287312
8 Management of Esophagitis Following Repair of Esophageal Atresia Unknown status NCT03619408 Antacids
9 Examination of the Cardiorespiratory Performance Capacity and Pulmonary Microbiome in Patients Following Surgical Repair of Esophageal Atresia Unknown status NCT03767673
10 Individualized Diagnosis and Treatment for Long Gap Esophageal Atresia Based on the Principle of Biological Growth Under Stress Unknown status NCT03023865
11 High-resolution Esophageal Manometry in Teenagers With Esophageal Atresia Completed NCT03415893
12 Chewing Function in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
13 Concerns of Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
14 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
15 Frequency of Occurrence of Dumping Syndrome After Operation of Esophageal Atresia Type III Completed NCT02525705
16 Prevalence of Barrett's Esophagus in Adolescents and Young Adults With Esophageal Atresia Completed NCT02495051
17 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
18 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
19 Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period Recruiting NCT04072419
20 A Mixed Methods Exploration of Early Feeding in Children Born With Oesophageal Atresia/Trache-oesophageal Fistula. Recruiting NCT04183621
21 Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
22 Neurodevelopmental Outcomes and Growth in Infants With Congenital Gastrointestinal Anomalies Requiring Neonatal Surgery Recruiting NCT04575649
23 National Register of Oesophageal Atresia Recruiting NCT02883725
24 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
25 Evaluation of the Respiratory Impact of Post-operative Chest Wall Anomalies After Conventional or Minimally Invasive Esophageal Atresia Surgery Not yet recruiting NCT04136795
26 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
27 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
28 the Effect of Different Modes of Mechanical Ventilation on Cerebral Blood Flow During Thoracoscopic Surgeries in Neonates (RCT) Not yet recruiting NCT04507295
29 Endoscopic Ultrasound Findings in Esophageal Atresia Following Surgical Repair Not yet recruiting NCT04259528
30 Physiopathology of Dumping Syndrome in Esophageal Atresia Not yet recruiting NCT04522193
31 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Suspended NCT03615495

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

Publications for Tracheoesophageal Fistula with or Without Esophageal Atresia

Articles related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

(show top 50) (show all 2544)
# Title Authors PMID Year
1
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. 6 61
32641753 2021
2
Familial occurrence of esophageal atresia with and without tracheoesophagel fistula: report of two unusual kindreds. 61 57
1877613 1991
3
Familial congenital esophageal atresia. Personal case report and review of the literature. 57 61
6714984 1984
4
Tracheoesophageal fistula in parent and offspring: a rare occurrence. 57 61
7416122 1980
5
Esophageal atresia with tracheoesophageal fistula in mother and child. 61 57
5505694 1970
6
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 57
16299066 2006
7
Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. 57
11182929 2000
8
Two-generation transmission of oesophageal atresia with tracheo-oesophageal fistula. 57
7234408 1981
9
Oesophageal atresia. 3 cases in 2 generations. 57
4765663 1973
10
CONGENITAL ATRESIA OF THE OESOPHAGUS IN TWO BROTHERS. 57
20321441 1939
11
Thoracoscopic repair of esophageal atresia with distal tracheoesophageal fistula: is it a safe procedure in infants weighing less than 2000 g? 61
32323019 2021
12
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
13
Identification of acquired tracheoesophageal fistula after tracheostomy decannulation by videofluoroscopic swallowing study: A case report. 61
33787636 2021
14
A tracheoesophageal fistula closed after being patent for over half a century. 61
33221322 2021
15
Congenital Tracheoesophageal Fistula in an Adult. 61
33393880 2021
16
Esophageal atresia with right aortic arch: An experience of thoracoscopic repair through left thorax. 61
32885582 2021
17
Vocal cord paralysis following lithium button battery ingestion in children. 61
33048238 2021
18
A New Montgomery® Salivary Bypass Tube Placement Technique: Report of Procedures Performed on Patients With Tracheoesophageal Fistula or Pharyngoesophageal Stenosis. 61
33764199 2021
19
Battery swallow-induced tracheoesophageal fistula in a pediatric patient. 61
33768923 2021
20
Closure of a chronic complex tracheoesophageal fistula by using endoscopic suturing. 61
33738359 2021
21
Early presentation of post-intubation tracheoesophageal fistula with severe tracheal stenosis in COVID-19 patient. 61
33682425 2021
22
Finding the bubble: atypical and unusual extrapulmonary air in the chest. 61
33678458 2021
23
Benchmarking utilization, length of stay, and complications following minimally invasive repair of major congenital anomalies. 61
33689012 2021
24
MicroRNA Levels in Exhaled Breath Condensate of Patients with Esophageal Atresia. 61
32869085 2021
25
Hypopharyngeal Perforation Mimicking Esophageal Atresia: A Case Report of an Extremely Low Birth Weight Infant Emphasizing the Need for Preoperative Endoscopy. 61
33684085 2021
26
Risk Factors of Early Mortality and Morbidity in Esophageal Atresia With Distal Tracheo-Esophageal Fistula: A Population-Based Cohort Study. 61
33667507 2021
27
Various Uses of Laryngeal Mask Airway during Tracheal Surgery. 61
33742428 2021
28
Autologous platelet-rich fibrin: a novel method for tracheoesophageal puncture site closure: a case report. 61
33729841 2021
29
Development of patient specific, realistic, and reusable video assisted thoracoscopic surgery simulator using 3D printing and pediatric computed tomography images. 61
33737647 2021
30
Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. 61
33678342 2021
31
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. 61
33247512 2021
32
Delayed Diagnosis in Esophageal Atresia and Tracheoesophageal Fistula: Case Study. 61
32384331 2021
33
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
34
Esophageal stent for a recurrent tracheoesophageal fistula in an infant. 61
33529457 2021
35
Abdominal esophageal banding for esophageal atresia with tracheoesophageal fistula in neonates with severe associated anomalies. 61
33388964 2021
36
Tracheal stent placement provides opportunity for subsequent anti-cancer therapy for cancer patients with malignant respiratory complications. 61
32921112 2021
37
Vascular and pulmonary comorbidities in children with congenital EA/TEF. 61
33300304 2021
38
The Outcome of Pediatric Esophageal Strictures Managed with Endoscopic Balloon Dilation in Saudi Arabia. 61
33216676 2021
39
Accompanied anomalies in anal atresia or tracheo-esophageal fistula: Comparison with or without VACTERL association. 61
33616304 2021
40
Diagnostic and management strategies for congenital H-type tracheoesophageal fistula: a systematic review. 61
33474597 2021
41
Iatrogenic esophageal and tracheal perforation with tracheoesophageal fistula following emergency intubation. 61
33489224 2021
42
Clinical outcomes following implementation of a management bundle for esophageal atresia with distal tracheoesophageal fistula. 61
33131776 2021
43
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
44
Massive gastric distension following tracheobronchial Y-shaped self-expanding metallic stent placement for large tracheoesophageal fistula. 61
33402648 2021
45
The multidisciplinary management of recurrent tracheoesophageal fistula after esophageal atresia: Experience with 135 cases from a tertiary center. 61
33454083 2021
46
Risk factors for digestive morbidities after esophageal atresia repair. 61
32648144 2021
47
Endotracheal metallic stent removal: A novel ABC (airway balloon collapse) technique. 61
33229032 2021
48
Education of pediatric surgery residents over time: Examining 15 years of case logs. 61
33139026 2021
49
Management and Outcomes of Button Batteries in the Aerodigestive Tract: A Multi-institutional Study. 61
32068903 2021
50
Elucidating the anatomy of a rare communicating bronchopulmonary foregut malformation (CBPFM) in a preschool child. 61
33431437 2021

Variations for Tracheoesophageal Fistula with or Without Esophageal Atresia

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

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCC , AOPEP NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) SNV Pathogenic 12047 rs104886457 GRCh37: 9:97864024-97864024
GRCh38: 9:95101742-95101742
2 BRCA2 NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) SNV Pathogenic 38099 rs80358972 GRCh37: 13:32930609-32930609
GRCh38: 13:32356472-32356472
3 BRIP1 NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) SNV Pathogenic 4738 rs137852986 GRCh37: 17:59793412-59793412
GRCh38: 17:61716051-61716051
4 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) SNV Pathogenic 38215 rs28897756 GRCh37: 13:32954050-32954050
GRCh38: 13:32379913-32379913
5 BRCA2 NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) SNV Pathogenic 51129 rs80358435 GRCh37: 13:32893291-32893291
GRCh38: 13:32319154-32319154
6 PALB2 NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) SNV Pathogenic 128144 rs118203998 GRCh37: 16:23614792-23614792
GRCh38: 16:23603471-23603471
7 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) SNV Pathogenic 37989 rs41293497 GRCh37: 13:32914174-32914174
GRCh38: 13:32340037-32340037
8 EFTUD2 NM_004247.4(EFTUD2):c.2419del (p.Gln807fs) Deletion Pathogenic 916558 GRCh37: 17:42930932-42930932
GRCh38: 17:44853564-44853564
9 PALB2 NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) SNV Pathogenic 128117 rs180177100 GRCh37: 16:23646627-23646627
GRCh38: 16:23635306-23635306
10 BRCA2 NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) SNV Pathogenic 51952 rs80358814 GRCh37: 13:32914349-32914349
GRCh38: 13:32340212-32340212
11 CELSR2 NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser) SNV Likely pathogenic 916557 GRCh37: 1:109795559-109795559
GRCh38: 1:109252937-109252937
12 APC2 NM_005883.3(APC2):c.665T>C (p.Ile222Thr) SNV Likely pathogenic 916556 GRCh37: 19:1456100-1456100
GRCh38: 19:1456101-1456101
13 AMER3 NM_152698.3(AMER3):c.2236C>T (p.Arg746Ter) SNV Likely pathogenic 916554 GRCh37: 2:131521881-131521881
GRCh38: 2:130764308-130764308
14 ADD1 NM_001354761.2(ADD1):c.1A>G (p.Met1Val) SNV Likely pathogenic 916553 GRCh37: 4:2877643-2877643
GRCh38: 4:2875916-2875916
15 AP1G2-AS1 , AP1G2 NM_003917.5(AP1G2):c.464G>A (p.Arg155His) SNV Likely pathogenic 916555 GRCh37: 14:24035494-24035494
GRCh38: 14:23566285-23566285
16 WDFY3 NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys) SNV Likely pathogenic 916574 GRCh37: 4:85708799-85708799
GRCh38: 4:84787646-84787646
17 TLR9 NM_017442.3(TLR9):c.548C>G (p.Pro183Arg) SNV Likely pathogenic 916573 GRCh37: 3:52257784-52257784
GRCh38: 3:52223768-52223768
18 TECPR1 NM_015395.3(TECPR1):c.2617G>A (p.Asp873Asn) SNV Likely pathogenic 916572 GRCh37: 7:97854186-97854186
GRCh38: 7:98224874-98224874
19 SMAD6 NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser) SNV Likely pathogenic 916571 GRCh37: 15:67073475-67073475
GRCh38: 15:66781137-66781137
20 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1379G>A (p.Arg460Gln) SNV Likely pathogenic 916570 GRCh37: 1:220364518-220364518
GRCh38: 1:220191176-220191176
21 PTPN14 NM_005401.5(PTPN14):c.1919G>A (p.Arg640His) SNV Likely pathogenic 916569 GRCh37: 1:214557279-214557279
GRCh38: 1:214383936-214383936
22 POLR2B NM_000938.3(POLR2B):c.2123C>T (p.Ala708Val) SNV Likely pathogenic 916568 GRCh37: 4:57883376-57883376
GRCh38: 4:57017210-57017210
23 PIK3C2G NM_001288772.2(PIK3C2G):c.761+2T>C SNV Likely pathogenic 916567 GRCh37: 12:18439865-18439865
GRCh38: 12:18286931-18286931
24 PCDH1 NM_032420.5(PCDH1):c.353A>G (p.Glu118Gly) SNV Likely pathogenic 916566 GRCh37: 5:141248684-141248684
GRCh38: 5:141869119-141869119
25 LURAP1L NM_203403.2(LURAP1L):c.346C>T (p.Arg116Cys) SNV Likely pathogenic 916565 GRCh37: 9:12821418-12821418
GRCh38: 9:12821419-12821419
26 KLHL17 NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu) SNV Likely pathogenic 916564 GRCh37: 1:899892-899892
GRCh38: 1:964512-964512
27 ITSN1 NM_003024.3(ITSN1):c.4381C>T (p.Arg1461Cys) SNV Likely pathogenic 916563 GRCh37: 21:35254586-35254586
GRCh38: 21:33882282-33882282
28 IRF8 NM_002163.4(IRF8):c.814G>A (p.Gly272Arg) SNV Likely pathogenic 916562 GRCh37: 16:85952235-85952235
GRCh38: 16:85918629-85918629
29 GTF3C1 NM_001520.4(GTF3C1):c.6040C>A (p.Pro2014Thr) SNV Likely pathogenic 916561 GRCh37: 16:27473692-27473692
GRCh38: 16:27462371-27462371
30 GLS NM_014905.5(GLS):c.1940C>T (p.Thr647Ile) SNV Likely pathogenic 916560 GRCh37: 2:191827642-191827642
GRCh38: 2:190962916-190962916
31 GART NM_000819.5(GART):c.1907T>G (p.Leu636Arg) SNV Likely pathogenic 916559 GRCh37: 21:34889711-34889711
GRCh38: 21:33517404-33517404
32 PALB2 NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) SNV Uncertain significance 126593 rs45619737 GRCh37: 16:23652468-23652468
GRCh38: 16:23641147-23641147
33 BRCA2 NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) SNV Uncertain significance 52256 rs80358930 GRCh37: 13:32929041-32929041
GRCh38: 13:32354904-32354904
34 PALB2 NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) SNV Uncertain significance 126681 rs180177125 GRCh37: 16:23635391-23635391
GRCh38: 16:23624070-23624070
35 BRCA2 NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) SNV Uncertain significance 96854 rs80358989 GRCh37: 13:32931886-32931886
GRCh38: 13:32357749-32357749

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 9.56 PALB2 FANCC BRIP1 BRCA2
2 Wnt signaling pathway GO:0016055 9.5 CELSR2 APC2 AMER3
3 DNA repair GO:0006281 9.46 PALB2 FANCC BRIP1 BRCA2
4 inner cell mass cell proliferation GO:0001833 8.96 PALB2 BRCA2
5 nucleotide-excision repair GO:0006289 8.8 FANCC BRIP1 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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45 MESH via Orphanet
46 MGI
49 NCI
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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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