MCID: TRC109
MIFTS: 45

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
UMLS 73 C0014850

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 isolated tracheoesophageal fistula. An important gene associated with Tracheoesophageal Fistula with or Without Esophageal Atresia is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. The drug threonine has been mentioned in the context of this disorder. Affiliated tissues include lung, colon and heart, and related phenotypes are tracheoesophageal fistula and esophageal atresia

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 top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula 31.9 PALB2 FANCC BRCA2
2 isolated tracheoesophageal fistula 29.2 PALB2 FANCC BRCA2
3 anophthalmia esophageal atresia cryptorchidism 12.1
4 esophageal atresia coloboma talipes 12.1
5 microphthalmia, syndromic 3 12.1
6 esophageal atresia/tracheoesophageal fistula 11.9
7 vacterl association 11.5
8 vater/vacterl association 11.5
9 arroyo garcia cimadevilla syndrome 11.5
10 fanconi anemia, complementation group b 11.2
11 diarrhea 5, with tufting enteropathy, congenital 11.2
12 anophthalmos with limb anomalies 11.2
13 methimazole antenatal exposure 11.2
14 esophageal atresia 10.6
15 gastroesophageal reflux 10.5
16 tracheomalacia 10.4
17 diaphragmatic hernia, congenital 10.4
18 lung agenesis 10.4
19 esophagitis 10.4
20 pyloric stenosis 10.3
21 duodenal atresia 10.2
22 esophagitis, eosinophilic, 1 10.2
23 hypertrophic pyloric stenosis 10.2
24 right aortic arch 10.2
25 scoliosis 10.2
26 microphthalmia 10.2
27 dysphagia 10.2
28 anus, imperforate 10.2
29 barrett esophagus 10.2
30 heart disease 10.1
31 fryns microphthalmia syndrome 10.1
32 tracheal stenosis 10.1
33 pneumonia 10.1
34 situs inversus 10.1
35 digeorge syndrome 10.0
36 choanal atresia, posterior 10.0
37 omphalocele 10.0
38 squamous cell carcinoma 10.0
39 laryngeal cleft 10.0
40 renal hypodysplasia/aplasia 1 9.9
41 cryptorchidism, unilateral or bilateral 9.9
42 tricuspid atresia 9.9
43 microcephaly 9.9
44 dextrocardia 9.9
45 swallowing disorders 9.9
46 dysautonomia 9.9
47 esophageal duplication cyst 9.9
48 fanconi anemia, complementation group j 9.9 PALB2 FANCC
49 fanconi anemia, complementation group d1 9.9 FANCC BRCA2
50 pancreatic neuroendocrine tumor 9.9 PALB2 BRCA2

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
G I:
tracheoesophageal fistula
esophageal atresia


Clinical features from OMIM:

189960

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

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

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 threonine Not Applicable

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair Recruiting NCT03730454 Phase 4
2 Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device Terminated NCT01153061 Phase 4
3 Adipose Derived SVF for Aero-digestive Fistulae Not yet recruiting NCT03792360 Phase 1 SVF (Stromal Vascular Fraction)
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 National Register of Oesophageal Atresia Recruiting NCT02883725
11 Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
12 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843 Not Applicable

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, Colon, Heart, Trachea, Testes, 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 1164)
# 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
Complete resolution of dysphagia after sequential Polyflexâ„¢ stenting in a case of recurrent anastomotic stenosis in an adult with congenital esophageal atresia. ( 30338691 )
2018
34
Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. ( 30232040 )
2018
35
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? ( 30245899 )
2018
36
Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German-Swedish Cohort. ( 30261518 )
2018
37
Vocal cord dysfunction following esophageal atresia and tracheoesophageal fistula (EA/TEF) repair. ( 30274710 )
2018
38
Prevalence and natural history of scoliosis and associated congenital vertebral anomalies in patients operated for esophageal atresia with or without tracheoesophageal fistula. ( 30301608 )
2018
39
Magnetic compression anastomosis (magnamosis) in a porcine esophagus: Proof of concept for potential application in esophageal atresia. ( 30309731 )
2018
40
Right or left thoracotomy for esophageal atresia and right aortic arch? Systematic review and surgicoanatomic justification. ( 30318282 )
2018
41
Prenatal diagnosis of esophageal atresia: A case of triple negative screening. ( 30347256 )
2018
42
Relationships between hospital and surgeon operative volumes and outcomes of esophageal atresia/tracheoesophageal fistula repair. ( 30401496 )
2018
43
Post-operative paralysis and elective ventilation reduces anastomotic complications in esophageal atresia: a systematic review and meta-analysis. ( 30415438 )
2018
44
Polyurethane scaffolds seeded with autologous cells can regenerate long esophageal gaps: An esophageal atresia treatment model. ( 30429066 )
2018
45
Physical Fitness and Locomotor Skills in Children With Esophageal Atresia-A Case Control Pilot Study. ( 30460218 )
2018
46
Pneumonia after Repair of Esophageal Atresia-Incidence and Main Risk Factors. ( 30469161 )
2018
47
Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. ( 30503021 )
2018
48
Suture fistula revisited for long gap esophageal atresia. ( 30527759 )
2018
49
Analysis of eosinophilic esophagitis in children with repaired congenital esophageal atresia. ( 30527929 )
2018
50
What is the impact of the use of transanastomotic feeding tube on patients with esophageal atresia: a systematic review and meta-analysis. ( 30541487 )
2018

Variations for Tracheoesophageal Fistula with or Without Esophageal Atresia

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh37 Chromosome 17, 59793412: 59793412
2 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh38 Chromosome 17, 61716051: 61716051
3 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
4 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh38 Chromosome 9, 95101742: 95101742
5 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
6 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh38 Chromosome 13, 32340037: 32340037
7 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
8 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh38 Chromosome 13, 32356472: 32356472
9 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
10 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
11 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
12 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
13 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
14 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212
15 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh37 Chromosome 13, 32929041: 32929041
16 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh38 Chromosome 13, 32354904: 32354904
17 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Uncertain significance rs80358989 GRCh37 Chromosome 13, 32931886: 32931886
18 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Uncertain significance rs80358989 GRCh38 Chromosome 13, 32357749: 32357749
19 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh38 Chromosome 16, 23641147: 23641147
20 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh37 Chromosome 16, 23652468: 23652468
21 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh38 Chromosome 16, 23624070: 23624070
22 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh37 Chromosome 16, 23635391: 23635391
23 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
24 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh37 Chromosome 16, 23646627: 23646627
25 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
26 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 DNA recombination GO:0006310 9.4 BRCA2 PALB2
2 multicellular organism growth GO:0035264 9.37 BRCA2 PALB2
3 cellular response to DNA damage stimulus GO:0006974 9.33 BRCA2 FANCC PALB2
4 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 PALB2
5 nucleotide-excision repair GO:0006289 9.26 BRCA2 FANCC
6 DNA repair GO:0006281 9.13 BRCA2 FANCC PALB2
7 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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