MCID: TRC109
MIFTS: 42

Tracheoesophageal Fistula with or Without Esophageal Atresia

Categories: Fetal 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
Esophageal Atresia 59 73
Esophageal Atresia with or Without Tracheoesophageal Fistula 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
probably multifactorial


Classifications:



External Ids:

OMIM 57 189960
Orphanet 59 ORPHA1199
MESH via Orphanet 45 D004933
UMLS via Orphanet 74 C0014850
ICD10 via Orphanet 34 Q39.0 Q39.1
MedGen 42 C1861028
SNOMED-CT via HPO 69 26179002 95435007

Summaries for Tracheoesophageal Fistula with or Without Esophageal Atresia

MalaCards based summary : Tracheoesophageal Fistula with or Without Esophageal Atresia, also known as esophageal atresia, is related to tracheoesophageal fistula and esophageal atresia/tracheoesophageal fistula. 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 Antacids have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and colon, and related phenotypes are esophageal atresia and tracheoesophageal fistula

Description 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 all 12)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula 30.5 BRCA2 FANCC PALB2
2 esophageal atresia/tracheoesophageal fistula 11.5
3 esophageal atresia 10.4
4 esophagitis 10.4
5 fanconi anemia, complementation group f 9.8 BRCA2 FANCC
6 congenital hypoplastic anemia 9.7 BRCA2 FANCC
7 bap1 tumor predisposition syndrome 9.5 BRCA2 PALB2
8 tumor predisposition syndrome 9.4 BRCA2 PALB2
9 female breast cancer 9.2 BRCA2 PALB2
10 hereditary breast ovarian cancer syndrome 9.1 BRCA2 PALB2
11 pancreas adenocarcinoma 8.9 BRCA2 PALB2
12 fanconi anemia, complementation group a 8.8 BRCA2 FANCC PALB2

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

Symptoms via clinical synopsis from OMIM:

57
GI:
esophageal atresia
tracheoesophageal fistula


Clinical features from OMIM:

189960

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

32
# Description HPO Frequency HPO Source Accession
1 esophageal atresia 32 HP:0002032
2 tracheoesophageal fistula 32 HP:0002575

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 9.43 BRCA2 PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.43 BRCA2 PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.43 BRCA2 PALB2
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 BRCA2 FANCC 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 22)
# 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 Pharmaceutical Solutions Phase 2,Not Applicable
7 Fat Emulsions, Intravenous Phase 2
8 Parenteral Nutrition Solutions Phase 2
9 Soybean oil, phospholipid emulsion Phase 2
10 Omega 3 Fatty Acid Nutraceutical Phase 2
11 Soy Bean Nutraceutical Phase 2
12
Nitric Oxide Approved 10102-43-9 145068 160954
13
Ropivacaine Approved 84057-95-4 71273 175805
14 Micronutrients Not Applicable
15 Trace Elements Not Applicable
16 Vitamins Not Applicable
17 Anesthetics
18 Anesthetics, Local
19 Central Nervous System Depressants
20 Peripheral Nervous System Agents
21 lysine Nutraceutical Not Applicable
22 threonine Nutraceutical Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device Terminated NCT01153061 Phase 4
2 Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants. Unknown status NCT00226044 Phase 3 Omeprazole suppository
3 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Not yet recruiting NCT03127345 Phase 2 Omegaven;Intralipid
4 Trichloroacetic Acid for Endoscopic Tracho-esophageal Fistula Repair Unknown status NCT01287312 Not Applicable
5 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245 Not Applicable
6 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
7 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
8 High-resolution Esophageal Manometry Completed NCT03415893
9 Ultrasound Guided Percutaneous Tracheostomy Compared to Bronchoscopy Guided Percutaneous Tracheostomy Completed NCT02084862 Not Applicable
10 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
11 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
12 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
13 National Register of Oesophageal Atresia Recruiting NCT02883725
14 Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
15 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705 Not Applicable
16 The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation Recruiting NCT03565822 Not Applicable
17 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
18 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
19 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843 Not Applicable
20 Individualized Management for Long Gap Esophageal Atresia Not yet recruiting NCT03023865 Not Applicable
21 Blood Ropivacaine Concentrations Following Nerve Block in Infants and Toddlers Undergoing Esophageal Atresia Repair Not yet recruiting NCT02860091 Ropivacaine infusion

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

Genetic Tests for Tracheoesophageal Fistula with or Without Esophageal Atresia

Anatomical Context for Tracheoesophageal Fistula with or Without Esophageal Atresia

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

41
Lung, Heart, Colon, Trachea, Brain, Pancreas, Bone

Publications for Tracheoesophageal Fistula with or Without Esophageal Atresia

Articles related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

(show top 50) (show all 798)
# Title Authors Year
1
Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula. ( 29429770 )
2018
2
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchioa89otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? ( 29257230 )
2018
3
Impaired FGF10 Signaling and Epithelial Development in Experimental Lung Hypoplasia With Esophageal Atresia. ( 29732364 )
2018
4
The experience of breastfeeding infants affected by congenital diaphragmatic hernia or esophageal atresia. ( 29970173 )
2018
5
Repair of congenital esophageal atresia with tracheoesophageal fistula repair in Ontario over the last 20years: Volume and outcomes. ( 29519572 )
2018
6
Impact of Esophageal Atresia on the Success of Fundoplication for Gastroesophageal Reflux. ( 29628411 )
2018
7
The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia. ( 29622396 )
2018
8
Location of TEF at the carina as an indicator of long-gap C-type esophageal atresia. ( 29931283 )
2018
9
Magnetic Compression Anastomosis in Long-Gap Esophageal Atresia Gross Type A: A Case Report. ( 29796381 )
2018
10
MUSCLE-SPARING VERSUS STANDARD POSTEROLATERAL THORACOTOMY IN NEONATES WITH ESOPHAGEAL ATRESIA. ( 29972393 )
2018
11
Experience with fully covered self-expandable metal stents for anastomotic stricture following esophageal atresia repair. ( 29939253 )
2018
12
Thoracoscopic posterior tracheopexy during primary esophageal atresia repair: a new approach to prevent tracheomalacia complications. ( 29804792 )
2018
13
Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life. ( 29635651 )
2018
14
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. ( 29399473 )
2018
15
Congenital Heart Disease and Its Impact on the Development of Anastomotic Strictures after Reconstruction of Esophageal Atresia. ( 29887883 )
2018
16
Etiological heterogeneity and clinical variability in newborns with esophageal atresia. ( 29373986 )
2018
17
Quality of Life in Parents of Children Born with Esophageal Atresia. ( 29920636 )
2018
18
Anastomotic Strictures after Esophageal Atresia Repair: Timing of Dilatation during the First Two Postoperative Years. ( 29740616 )
2018
19
Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia. ( 29373345 )
2018
20
Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing. ( 29621589 )
2018
21
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. ( 29325785 )
2018
22
Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula. ( 29429769 )
2018
23
Kluth Type IIIb<sub>6</sub> Esophageal Atresia: Diagnostic Dilemma and Pitfalls of Using Infant Feeding Tube. ( 29681702 )
2018
24
Oral feeding outcomes in infants with esophageal atresia and tracheoesophageal fistula. ( 29519575 )
2018
25
Double Supercharged Jejunal Interposition for Late Salvage of Long-gap Esophageal Atresia. ( 29905609 )
2018
26
Intentional tracheoesophageal fistula cannulation for gastric decompression in type C esophageal atresia. ( 29484765 )
2018
27
Congenital Esophageal Atresia and Microtia in a Newborn Secondary to Mycophenolate Mofetil Exposure During Pregnancy: A Case Report and Review of the Literature. ( 29720579 )
2018
28
The Esophageal-atresia-Quality-of-life questionnaires: feasibility, validity and reliability in Sweden and Germany. ( 29738345 )
2018
29
Eosinophilic esophagitis and esophageal atresia: coincidence or causality? ( 29333824 )
2018
30
Esophageal Atresia with Tracheoesophageal Fistula and Gastroesophageal Reflux in Children: Dental Considerations and Case Report. ( 29750630 )
2018
31
Prevalence of Laryngeal Cleft in Pediatric Patients With Esophageal Atresia. ( 29270628 )
2018
32
Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. ( 29445485 )
2018
33
Management and outcome of neonates with a prenatal diagnosis of esophageal atresia type A: A population-based study. ( 29739032 )
2018
34
Laryngotracheal anomalies associated with esophageal atresia: importance of early diagnosis. ( 29299746 )
2018
35
Esophageal atresia with distal fistula - unusual case series. Considerations related to epidemiological aspects, malformative associations, and prenatal diagnosis. ( 29250692 )
2017
36
Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature. ( 28314387 )
2017
37
Comparison of outcomes of thoracoscopic primary repair of gross type C esophageal atresia performed by qualified and non-qualified surgeons. ( 28801747 )
2017
38
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
39
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
40
Successful Thoracic Duct Embolization for Treatment of anA Iatrogenic Left Chylothorax inA aA Neonate after Repair of a Tracheoesophageal Fistula and Esophageal Atresia. ( 28841955 )
2017
41
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
42
Management of neonates with right-sided aortic arch and esophageal atresia: International survey on IPEG AND ESPES membersA' experience. ( 29241961 )
2017
43
No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood. ( 28873491 )
2017
44
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
45
Posterior Tracheopexy for Severe Tracheomalacia Associated with Esophageal Atresia (EA): Primary Treatment at the Time of Initial EA Repair versus Secondary Treatment. ( 29379786 )
2017
46
Chewing Function in Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula. ( 29212093 )
2017
47
Isolated tracheoesophageal fistula versus esophageal atresia - Early morbidity and short-term outcome. A single institution series. ( 28166998 )
2017
48
Dilations of anastomotic strictures over time after repair of esophageal atresia. ( 27844168 )
2017
49
Clinical Study of Congenital Esophageal Stenosis: Comparison according to Association of Esophageal Atresia and Tracheoesophageal Fistula. ( 28730131 )
2017
50
Utilizing stricture indices to predict dilation of strictures after esophageal atresia repair. ( 28807203 )
2017

Variations for Tracheoesophageal Fistula with or Without Esophageal Atresia

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
2 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh38 Chromosome 9, 95101742: 95101742
3 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
4 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh38 Chromosome 13, 32340037: 32340037
5 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
6 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh38 Chromosome 13, 32356472: 32356472
7 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
8 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
9 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
10 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
11 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
12 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212
13 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
14 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh37 Chromosome 16, 23646627: 23646627
15 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
16 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh37 Chromosome 16, 23614792: 23614792

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 9.5 BRCA2 FANCC PALB2
2 DNA recombination GO:0006310 9.43 BRCA2 PALB2
3 double-strand break repair via homologous recombination GO:0000724 9.4 BRCA2 PALB2
4 nucleotide-excision repair GO:0006289 9.37 BRCA2 FANCC
5 DNA repair GO:0006281 9.33 BRCA2 FANCC PALB2
6 DNA synthesis involved in DNA repair GO:0000731 9.26 BRCA2 PALB2
7 strand displacement GO:0000732 8.96 BRCA2 PALB2
8 inner cell mass cell proliferation GO:0001833 8.62 BRCA2 PALB2

Sources for Tracheoesophageal Fistula with or Without Esophageal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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