MCID: ESP029
MIFTS: 31

Esophageal Atresia/tracheoesophageal Fistula

Categories: Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

MalaCards integrated aliases for Esophageal Atresia/tracheoesophageal Fistula:

Name: Esophageal Atresia/tracheoesophageal Fistula 12 23 24 25 14
Esophageal Atresia with or Without Tracheoesophageal Fistula 69
Tracheoesophageal Fistula with or Without Esohageal Atresia 12
Esophageal Atresia and/or Tracheoesophageal Fistula 12
Esophageal Atresia with Tracheoesophageal Fistula 69
Ea/tef 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0080171

Summaries for Esophageal Atresia/tracheoesophageal Fistula

Genetics Home Reference : 25 Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result.

MalaCards based summary : Esophageal Atresia/tracheoesophageal Fistula, also known as esophageal atresia with or without tracheoesophageal fistula, is related to esophageal atresia and tracheoesophageal fistula. An important gene associated with Esophageal Atresia/tracheoesophageal Fistula is TEF (TEF, PAR BZIP Transcription Factor), and among its related pathways/superpathways is Heart Development. Affiliated tissues include trachea and lung, and related phenotypes are homeostasis/metabolism and mortality/aging

Disease Ontology : 12 A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing.

GeneReviews: NBK5192

Related Diseases for Esophageal Atresia/tracheoesophageal Fistula

Diseases related to Esophageal Atresia/tracheoesophageal Fistula via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 esophageal atresia 31.5 NKX2-6 TEF
2 tracheoesophageal fistula 11.7
3 esophagitis 10.7
4 oral hairy leukoplakia 10.6 TBX4 TEF
5 ulcer of lower limbs 10.6 TBX4 TEF
6 myotonic cataract 10.5 NKX2-6 TEF
7 imperforate anus 10.4 LPP TEF
8 periodic limb movement disorder 10.4 ATP4A TEF
9 paracoccidioidomycosis 10.4 ATP4A TEF
10 cryptogenic organizing pneumonia 10.4 ATP4A TEF
11 intestinal atresia 10.4 FGF10 TEF
12 congenital diaphragmatic hernia 10.2
13 chromosome 15q24 deletion syndrome 10.1 NKX2-6 TBX1
14 tricho odonto onycho dermal syndrome 10.1 NKX2-6 TBX1
15 ichthyosis 10.0 NKX2-6 TBX1
16 gastroesophageal reflux 10.0
17 tracheomalacia 10.0
18 hypertrophic pyloric stenosis 10.0
19 pyloric stenosis 10.0
20 vacterl association 10.0
21 scrotum melanoma 10.0 ATP12A ATP4A
22 congenital aphakia 10.0 ATP12A ATP4A
23 shwartzman phenomenon 10.0 ATP12A ATP4A
24 primary syphilis 10.0 ATP12A ATP4A
25 bone giant cell sarcoma 10.0 ATP12A ATP4A
26 urethral calculus 10.0 ATP12A ATP4A
27 breast ductal adenoma 9.9 ATP12A ATP4A
28 hypopituitarism 9.9 ATP12A ATP4A
29 amyotrophic lateral sclerosis type 5 9.9 ATP12A ATP4A
30 abnormal pupillary function 9.9 ATP12A ATP4A
31 atheroembolism of kidney 9.9 ATP12A ATP4A
32 microphthalmia, syndromic 12 9.9 ATP12A ATP4A
33 synostosis 9.9 ATP12A ATP4A
34 muscle cancer 9.9 ATP12A ATP4A
35 adult xanthogranuloma 9.9 ATP12A ATP4A
36 polysyndactyly with cardiac malformation 9.9 ATP12A ATP4A
37 focal hand dystonia 9.9 ATP12A ATP4A
38 thrombocytopenia due to platelet alloimmunization 9.9 ATP12A ATP4A
39 proliferative fasciitis 9.9 ATP12A ATP4A
40 hodgkin's paragranuloma 9.9 ATP12A ATP4A
41 bladder neck cancer 9.9 ATP12A ATP4A
42 spinocerebellar ataxia 18 9.9 ATP12A ATP4A
43 intracranial sinus thrombosis 9.9 ATP12A ATP4A
44 fungal gastritis 9.8 ATP12A ATP4A
45 cubitus valgus with mental retardation and unusual facies 9.8 ATP12A ATP4A
46 villous adenocarcinoma 9.8 ATP12A ATP4A
47 ileocolitis 9.8 ATP12A ATP4A
48 allergic urticaria 9.8 ATP12A ATP4A
49 mesenteric vascular occlusion 9.8 ATP12A ATP4A
50 scleral staphyloma 9.8 ATP12A ATP4A

Graphical network of the top 20 diseases related to Esophageal Atresia/tracheoesophageal Fistula:



Diseases related to Esophageal Atresia/tracheoesophageal Fistula

Symptoms & Phenotypes for Esophageal Atresia/tracheoesophageal Fistula

MGI Mouse Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 IDH1 LPP NKX2-6 TBX1 TBX4 TEF
2 mortality/aging MP:0010768 9.23 ATP4A FGF10 IDH1 LPP NKX2-6 TBX1

Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245
2 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
3 National Register of Oesophageal Atresia Recruiting NCT02883725
4 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Enrolling by invitation NCT02033772

Search NIH Clinical Center for Esophageal Atresia/tracheoesophageal Fistula

Genetic Tests for Esophageal Atresia/tracheoesophageal Fistula

Genetic tests related to Esophageal Atresia/tracheoesophageal Fistula:

id Genetic test Affiliating Genes
1 Esophageal Atresia/tracheoesophageal Fistula 24

Anatomical Context for Esophageal Atresia/tracheoesophageal Fistula

MalaCards organs/tissues related to Esophageal Atresia/tracheoesophageal Fistula:

39
Trachea, Lung

Publications for Esophageal Atresia/tracheoesophageal Fistula

Articles related to Esophageal Atresia/tracheoesophageal Fistula:

(show all 22)
id Title Authors Year
1
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
2
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
3
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
4
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
5
Swallowing Dysfunction and Quality of Life in Adults With Surgically Corrected Esophageal Atresia/Tracheoesophageal Fistula as Infants: Forty Years of Follow-up. ( 27607100 )
2016
6
Late Complication of Esophageal Atresia/Tracheoesophageal Fistula Repair. ( 27139297 )
2016
7
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children with Esophageal Atresia- Tracheoesophageal Fistula. ( 27579697 )
2016
8
Outcome of esophageal atresia/tracheoesophageal fistula in extremely low birth weight neonates (<1000A grams). ( 26519042 )
2015
9
The management of postoperative reflux in congenital esophageal atresia-tracheoesophageal fistula: a systematic review. ( 25011995 )
2014
10
Validation of measures from a thoracoscopic esophageal atresia/tracheoesophageal fistula repair simulator. ( 24439576 )
2014
11
Quality of reporting of the literature on gastrointestinal reflux after repair of esophageal atresia-tracheoesophageal fistula. ( 25783329 )
2014
12
Evaluation of Three Sources of Validity Evidence for a Synthetic Thoracoscopic Esophageal Atresia/Tracheoesophageal Fistula Repair Simulator. ( 25314617 )
2014
13
Post-operative management of esophageal atresia-tracheoesophageal fistula and gastroesophageal reflux: a Canadian Association of Pediatric Surgeons annual meeting survey. ( 24851754 )
2014
14
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. ( 22639458 )
2012
15
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? ( 20954108 )
2011
16
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. ( 20113643 )
2010
17
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. ( 20221592 )
2010
18
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. ( 20006009 )
2009
19
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. ( 15933889 )
2005
20
The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia. ( 15602760 )
2005
21
Esophageal atresia/tracheoesophageal fistula and associated congenital esophageal stenosis. ( 9174027 )
1997
22
Esophageal Atresia/Tracheoesophageal Fistula Overview ( 20301753 )
1993

Variations for Esophageal Atresia/tracheoesophageal Fistula

Expression for Esophageal Atresia/tracheoesophageal Fistula

Search GEO for disease gene expression data for Esophageal Atresia/tracheoesophageal Fistula.

Pathways for Esophageal Atresia/tracheoesophageal Fistula

Pathways related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.29 FGF10 TBX1

GO Terms for Esophageal Atresia/tracheoesophageal Fistula

Biological processes related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.63 FGF10 TBX1 TBX4
2 odontogenesis of dentin-containing tooth GO:0042475 9.49 FGF10 TBX1
3 thymus development GO:0048538 9.48 FGF10 TBX1
4 digestive tract development GO:0048565 9.43 FGF10 NKX2-6
5 blood vessel morphogenesis GO:0048514 9.4 FGF10 TBX1
6 thyroid gland development GO:0030878 9.37 FGF10 TBX1
7 limb morphogenesis GO:0035108 9.32 FGF10 TBX4
8 pharyngeal system development GO:0060037 9.26 NKX2-6 TBX1
9 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.16 ATP12A ATP4A
10 muscle cell fate commitment GO:0042693 8.96 FGF10 TBX1
11 semicircular canal morphogenesis GO:0048752 8.62 FGF10 TBX1

Molecular functions related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP12A ATP4A
2 hydrogen:potassium-exchanging ATPase activity GO:0008900 8.62 ATP12A ATP4A

Sources for Esophageal Atresia/tracheoesophageal Fistula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....