MCID: ESP029
MIFTS: 31

Esophageal Atresia/tracheoesophageal Fistula malady

Summaries for Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
21Genetics Home Reference, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 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: Esophageal Atresia/tracheoesophageal Fistula, also known as esophageal atresia with tracheo-esophageal fistula, is related to esophageal atresia and tracheoesophageal fistula. An important gene associated with Esophageal Atresia/tracheoesophageal Fistula is MYCN (v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog), and among its related pathways is Cardiac Progenitor Differentiation. Affiliated tissues include trachea and lung, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

GeneReviews summary for tef-ov

Aliases & Classifications for Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
60UMLS, 19GeneReviews, 20GeneTests, 21Genetics Home Reference
See all sources

Aliases & Descriptions:

esophageal atresia/tracheoesophageal fistula 19 20 21
esophageal atresia with tracheo-esophageal fistula 60
episodic ataxia type 1 60
ea/tef 21


Related Diseases for Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia31.2NOG
2tracheoesophageal fistula30.5NOG
3vacterl association30.4LPP
4episodic ataxia type 110.9
5episodic ataxia10.8
6esophagitis10.8
7congenital diaphragmatic hernia10.5
8hypertrophic pyloric stenosis10.3
9pyloric stenosis10.3
10neuronitis10.3
11episodic ataxia type 210.3
12erythropoietic protoporphyria, autosomal recessive10.2
13medulloblastoma10.0MYCN
14embryonal cancer10.0MYCN, SOX2
15craniosynostosis10.0NOG
16coloboma10.0CHD7, SOX2
17synostosis10.0NOG, GLI3
18syndactyly10.0GLI3, NOG

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



Diseases related to esophageal atresia/tracheoesophageal fistula

Clinical Features for Esophageal Atresia/tracheoesophageal Fistula

About this section

Drugs & Therapeutics for Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Esophageal Atresia/tracheoesophageal Fistula

Drug clinical trials:

Search ClinicalTrials for Esophageal Atresia/tracheoesophageal Fistula

Search NIH Clinical Center for Esophageal Atresia/tracheoesophageal Fistula

Search CenterWatch for Esophageal Atresia/tracheoesophageal Fistula

Genetic Tests for Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Esophageal Atresia/tracheoesophageal Fistula:

id Genetic test Affiliating Genes
1 Esophageal Atresia/tracheoesophageal Fistula20

Anatomical Context for Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
32MalaCards
See all sources

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

32
Trachea, Lung

Animal Models for Esophageal Atresia/tracheoesophageal Fistula or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Esophageal Atresia/tracheoesophageal Fistula:

36 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1NOG, GLI3, SOX2
2MP:00053778.6SOX2, CHD7, GLI3, NOG
3MP:00053718.5CHD7, MYCN, GLI3, NOG
4MP:00053888.3SOX2, CHD7, MYCN, GLI3, NOG
5MP:00053818.3SOX2, CHD7, MYCN, GLI3, NOG
6MP:00036318.1NOG, GLI3, MYCN, CHD7, SOX2
7MP:00053798.1SOX2, FANCA, CHD7, GLI3, NOG
8MP:00053827.9SOX2, FANCA, CHD7, MYCN, GLI3, NOG
9MP:00053917.9SOX2, FANCA, CHD7, MYCN, GLI3, NOG
10MP:00053907.9SOX2, FANCA, CHD7, MYCN, GLI3, NOG
11MP:00053807.8SOX2, FANCA, CHD7, MYCN, GLI3, NOG
12MP:00053857.7FANCA, CHD7, MYCN, GLI3, NOG
13MP:00053787.6SOX2, FANCA, CHD7, MYCN, GLI3, NOG
14MP:00053767.2SOX2, LPP, CHD7, MYCN, GLI3, NOG
15MP:00053897.1NOG, SOX2, FANCA, LPP, CHD7, MYCN
16MP:00053847.0SOX2, FANCA, LPP, CHD7, MYCN, GLI3
17MP:00107687.0SOX2, FANCA, LPP, CHD7, MYCN, GLI3

Publications for Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
50PubMed
See all sources

Articles related to Esophageal Atresia/tracheoesophageal Fistula:

idTitleAuthorsYear
1
VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula withA Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their UpperA Limb Involvement. (24210691)
2013
2
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
3
What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients? (20954108)
2011
4
Esophageal atresia/tracheoesophageal fistula complicated by hypertrophic pyloric stenosis: a case report. (20113643)
2010
5
Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. (20221592)
2010
6
Esophageal atresia/tracheoesophageal fistula in very low-birth-weight neonates: improved outcomes with staged repair. (20006009)
2009
7
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. (15933889)
2005
8
The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia. (15602760)
2005
9
Esophageal atresia/tracheoesophageal fistula and associated congenital esophageal stenosis. (9174027)
1997
10
Esophageal Atresia/Tracheoesophageal Fistula Overview (20301753)
1993

Genetic Variations for Esophageal Atresia/tracheoesophageal Fistula

About this section

Expression for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

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

Pathways for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
37NCBI BioSystems Database
See all sources

Pathways related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NOG, SOX2

Compounds for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

About this section

GO Terms for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.3GLI3, MYCN, CHD7, LPP, FANCA, SOX2

Biological processes related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1limb developmentGO:0601739.8NOG, CHD7
2pituitary gland developmentGO:0219839.8NOG, SOX2
3negative regulation of osteoblast differentiationGO:0456689.7SOX2, NOG
4tongue developmentGO:0435869.7GLI3, SOX2
5somatic stem cell maintenanceGO:0350199.7SOX2, NOG
6positive regulation of neuroblast proliferationGO:0020529.7SOX2, GLI3
7inner ear morphogenesisGO:0424729.6SOX2, CHD7
8osteoblast differentiationGO:0016499.6NOG, SOX2
9negative regulation of neuron differentiationGO:0456659.6GLI3, SOX2
10skeletal system developmentGO:0015019.5NOG, CHD7
11embryonic digit morphogenesisGO:0427339.5NOG, GLI3
12palate developmentGO:0600219.3GLI3, CHD7
13negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.2NOG, GLI3, SOX2
14in utero embryonic developmentGO:0017019.1NOG, GLI3, CHD7
15negative regulation of transcription from RNA polymerase II promoterGO:0001228.6NOG, GLI3, SOX2

Molecular functions related to Esophageal Atresia/tracheoesophageal Fistula according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.0GLI3, CHD7, SOX2
2protein bindingGO:0055156.4NOG, SOX2, FANCA, LPP, CHD7, MYCN

Products for genes affiliated with Esophageal Atresia/tracheoesophageal Fistula

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Esophageal Atresia/tracheoesophageal Fistula

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet