Esophageal Atresia/tracheoesophageal Fistula malady

Genetics Home Reference: 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.¹⁷

MalaCards: Esophageal Atresia/tracheoesophageal Fistula, also known as esophageal atresia, is related to esophagitis and tracheoesophageal fistula. An important gene associated with Esophageal Atresia/tracheoesophageal Fistula is SOX2 (SRY (sex determining region Y)-box 2). Affiliated tissues include trachea, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

GeneReviews summary for tef-ov

esophageal atresia/tracheoesophageal fistula 15 16 17 esophageal atresia 17 43

ea/tef 17

Diseases related to esophageal atresia/tracheoesophageal fistula by text searches and GeneDecks gene sharing:

(show all 17)

id	Related Disease	Score	Top Affiliating Genes
1	esophagitis	29.8	MYCN, CHD7, FANCA, GLI3, SOX2
2	tracheoesophageal fistula	28.9	SOX2, GLI3, FANCA, CHD7, MYCN
3	esophageal atresia	28.9	SOX2, GLI3, FANCA, CHD7, MYCN
4	twinning	26.3	SOX2, FANCA, CHD7, MYCN
5	coloboma	12.3	CHD7, SOX2
6	pediatric cns embryonal cell carcinoma	12.2	MYCN, SOX2
7	medulloblastoma	12.0	SOX2, GLI3, MYCN
8	adenocarcinoma	11.2	MYCN, FANCA, GLI3, SOX2
9	anophthalmia esophageal atresia cryptorchidism	7.8
10	anophthalmia-esophageal atresia-genital abnormalities syndrome	7.8
11	esophageal atresia coloboma talipes	7.8
12	microphthalmia syndromic 3	7.3
13	vacterl association	7.3
14	anophthalmia	6.4
15	arroyo garcia cimadevilla syndrome	6.4
16	congenital heart defect	6.4
17	microcephaly	6.4

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to esophageal atresia/tracheoesophageal fistula:

²²

MGI Mouse Phenotypes related to esophageal atresia/tracheoesophageal fistula:

²⁵ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	taste/olfaction phenotype	MP:0005394	9.5	SOX2, GLI3
2	hearing/vestibular/ear phenotype	MP:0005377	8.9	GLI3, SOX2, CHD7
3	respiratory system phenotype	MP:0005388	8.6	GLI3, SOX2, CHD7, MYCN
4	digestive/alimentary phenotype	MP:0005381	8.6	SOX2, CHD7, MYCN, GLI3
5	limbs/digits/tail phenotype	MP:0005371	8.5	GLI3, CHD7, MYCN
6	endocrine/exocrine gland phenotype	MP:0005379	8.2	FANCA, GLI3, SOX2, CHD7
7	cardiovascular system phenotype	MP:0005385	7.9	CHD7, GLI3, MYCN, FANCA
8	craniofacial phenotype	MP:0005382	7.8	FANCA, MYCN, CHD7, SOX2, GLI3
9	vision/eye phenotype	MP:0005391	7.8	FANCA, SOX2, MYCN, CHD7, GLI3
10	skeleton phenotype	MP:0005390	7.8	MYCN, CHD7, FANCA, SOX2, GLI3
11	embryogenesis phenotype	MP:0005380	7.8	SOX2, GLI3, FANCA, CHD7, MYCN
12	reproductive system phenotype	MP:0005389	7.8	FANCA, MYCN, CHD7, SOX2, GLI3
13	cellular phenotype	MP:0005384	7.7	SOX2, FANCA, CHD7, MYCN, GLI3
14	growth/size phenotype	MP:0005378	7.7	GLI3, FANCA, CHD7, MYCN, SOX2
15	mortality/aging	MP:0010768	7.6	GLI3, MYCN, CHD7, FANCA, SOX2

Articles related to esophageal atresia/tracheoesophageal fistula:

id	Title	Authors	Year	Affiliating Genes
1	Etiology of esophageal atresia and tracheoesophageal fistula: 'mind the gap'. (20425471)	de Jong E.M.... Tibboel D.	2010	FANCA, GLI3, MYCN
2	Genetic players in esophageal atresia and tracheoesophageal fistula. (15917211)	Brunner H.G.... van Bokhoven H.	2005	CHD7

Genes related to esophageal atresia/tracheoesophageal fistula according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SOX2	SRY (sex determining region Y)-box 2	11.1	Publications
2	MYCN	v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)	11.1	Publications
3	CHD7	chromodomain helicase DNA binding protein 7	11.1	Publications
4	FANCA	Fanconi anemia, complementation group A	11.1	Publications
5	GLI3	GLI family zinc finger 3	11.1	Publications

Cellular components related to esophageal atresia/tracheoesophageal fistula according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:005634	7.5	MYCN, CHD7, FANCA, GLI3, SOX2

Biological processes related to esophageal atresia/tracheoesophageal fistula according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	tongue development	GO:043586	9.7	SOX2, GLI3
2	positive regulation of neuroblast proliferation	GO:002052	9.7	GLI3, SOX2
3	negative regulation of neuron differentiation	GO:045665	9.6	SOX2, GLI3
4	embryonic skeletal system morphogenesis	GO:048704	9.6	GLI3, MYCN
5	embryonic digit morphogenesis	GO:042733	9.6	MYCN, GLI3
6	inner ear morphogenesis	GO:042472	9.5	CHD7, SOX2
7	lung development	GO:030324	9.4	MYCN, GLI3
8	palate development	GO:060021	9.4	CHD7, GLI3
9	negative regulation of canonical Wnt receptor signaling pathway	GO:090090	9.4	GLI3, SOX2
10	in utero embryonic development	GO:001701	9.3	GLI3, CHD7
11	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.7	SOX2, GLI3, MYCN

Molecular functions related to esophageal atresia/tracheoesophageal fistula according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding transcription factor activity	GO:003700	9.0	GLI3, MYCN, SOX2
2	chromatin binding	GO:003682	8.8	CHD7, GLI3, SOX2
3	protein binding	GO:005515	7.2	GLI3, FANCA, CHD7, MYCN, SOX2