Esophageal Atresia 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, also known as congenital atresia of esophagus (disorder), is related to esophageal atresia/tracheoesophageal fistula and tracheoesophageal fistula. An important gene associated with Esophageal Atresia is SHH (sonic hedgehog), and among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Naphthalene metabolism. The compounds helospectin and carbachol have been mentioned in the context of this disorder. Affiliated tissues include heart and trachea, and related mouse phenotypes are taste/olfaction and limbs/digits/tail.

Wikipedia: Esophageal atresia (or Oesophageal atresia) is a congenital medical condition (birth defect) which...⁴⁴ more...

Aliases & Descriptions:

esophageal atresia 6 30 8 32 43 congenital atresia of esophagus (disorder) 6 imperforate esophagus (disorder) 6

congenital imperforate esophagus 6 neonatal hemochromatosis 43 oesophageal atresia 6

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

(show top 50)    (show all 315)

id	Related Disease	Score	Top Affiliating Genes
1	esophageal atresia/tracheoesophageal fistula	34.3	MYCN, CHD7, FANCA, GLI3, SOX2
2	tracheoesophageal fistula	32.0	MYCN, CHD7, FANCA, GLI3, NOG, SHH
3	twinning	29.0	MYCN, CHD7, CHGA, FANCA, SHH, SOX2
4	vacterl association	28.9	SGCG, MTHFSD, FOXF1, GLI3, HOXA3, HOXB3
5	coloboma	28.8	CHD7, SHH, TCOF1, SOX2
6	imperforate anus	28.6	SGCG, GLI3, TEF
7	hirschsprung's disease	25.9	VIP, CHGA, GRP, ENO2, CALCA, NPY
8	esophagitis	23.6	REXO1L1, SGCG, VIP, MYCN, CHD7, CHGA
9	conductive deafness with malformed external ear	13.6	NOG, TCOF1
10	choanal atresia	13.5	CHD7, SHH, TCOF1
11	syndactyly	13.3	FGF10, GLI3, NOG, SHH
12	middle ear cancer	13.3	CHGA, ENO2
13	ewing's family of tumors	13.2	MYCN, CHGA, GRP
14	gastric small cell carcinoma	13.2	CHGA, ENO2
15	supratentorial neoplasm	13.2	CHGA, ENO2
16	renal agenesis	13.2	CHD7, FGF10, SIX2
17	craniosynostosis	13.2	FGF10, GLI3, NOG, TCOF1
18	synostosis	13.1	FGF10, GLI3, TBX4, NOG, SHH
19	lambert-eaton myasthenic syndrome	13.1	GRP, ENO2, SOX2
20	ganglioglioma	13.0	MYCN, CHGA, ENO2
21	myasthenic syndrome	13.0	GRP, ENO2, SOX2
22	wdha syndrome	13.0	VIP, CALCA
23	peripheral primitive neuroectodermal tumor	12.9	MYCN, CHGA, GRP, ENO2
24	prostate small cell carcinoma	12.9	CHGA, ENO2, CALCA
25	prolactinoma	12.9	VIP, CHGA, NOG, GAL
26	normal pressure hydrocephalus	12.9	VIP, NPY, GAL
27	pulmonary neuroendocrine tumor	12.8	CHGA, GRP, CALCA
28	large cell carcinoma	12.8	CHGA, ENO2, CALCA
29	chronic pain	12.8	CHGA, CALCA, GAL
30	achalasia	12.8	VIP, GRP, ENO2
31	vipoma	12.8	VIP, CHGA, CALCA
32	bone cancer	12.8	ENO2, CALCA, GAL
33	neuroepithelioma	12.8	MYCN, GRP, ENO2, NPY
34	brain cancer	12.8	MYCN, GRP, ENO2, SHH, GAL
35	sclerosing hemangioma	12.7	CHGA, ENO2, CALCA
36	carcinoid tumor of lung	12.7	ENO2, CALCA, NPY
37	rhabdoid tumors	12.7	MYCN, CHGA, ENO2, CALCA
38	pancreatic islet cell tumors	12.7	VIP, CHGA, CALCA
39	paraneoplastic syndromes	12.6	VIP, ENO2, CALCA
40	familial medullary thyroid carcinoma	12.6	CHGA, GRP, ENO2, CALCA
41	gastrinoma	12.6	VIP, CHGA, GRP, ENO2, SHH
42	neuroendocrine carcinoma	12.5	CHGA, GRP, ENO2, CALCA
43	cluster headache	12.5	VIP, CALCA, NPY
44	hernia	12.5	FGF10, GRP, CALCA, TEF, SHH
45	cerebral primitive neuroectodermal tumor	12.5	VIP, MYCN, CHGA, GRP, ENO2
46	thyroid medullary carcinoma	12.5	CHGA, GRP, ENO2, CALCA
47	somatostatinoma	12.5	VIP, CHGA, ENO2, CALCA
48	neuroectodermal tumors	12.5	VIP, MYCN, CHGA, GRP, ENO2
49	glucagonoma	12.5	VIP, CHGA, ENO2, CALCA
50	hypospadias	12.4	GSTM1, GSTT1, FGF10, SHH

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to esophageal atresia:

²²

MGI Mouse Phenotypes related to esophageal atresia:

²⁵ (show all 20)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	taste/olfaction phenotype	MP:0005394	9.7	SOX2, TCOF1, NOG, GLI3, ENO2
2	limbs/digits/tail phenotype	MP:0005371	9.3	NOG, TBX4, GLI3, FGF10, CHD7, MYCN
3	renal/urinary system phenotype	MP:0005367	9.2	SIX2, SHH, NOG, GLI3, FGF10, CHGA
4	craniofacial phenotype	MP:0005382	9.1	TCOF1, NOG, HOXD3, HOXB3, HOXA3, GLI3
5	endocrine/exocrine gland phenotype	MP:0005379	9.1	GAL, NOG, HOXD3, HOXB3, HOXA3, GLI3
6	hearing/vestibular/ear phenotype	MP:0005377	8.9	SOX2, TCOF1, SHH, NOG, GLI3, CALCA
7	vision/eye phenotype	MP:0005391	8.9	SOX2, TCOF1, SHH, NOG, GLI3, FANCA
8	respiratory system phenotype	MP:0005388	8.7	TCOF1, NOG, HOXD3, HOXB3, HOXA3, GLI3
9	reproductive system phenotype	MP:0005389	8.7	GAL, SOX2, SHH, NOG, GLI3, FANCA
10	embryogenesis phenotype	MP:0005380	8.5	HOXD3, TBX4, NOG, SHH, TCOF1, HOXB3
11	digestive/alimentary phenotype	MP:0005381	8.4	NOG, SHH, TCOF1, SOX2, NPY, HOXC4
12	normal phenotype	MP:0002873	8.1	SIX2, NPY, SOX2, SHH, NOG, TBX4
13	skeleton phenotype	MP:0005390	7.9	SGCG, TCOF1, NOG, TBX4, HOXD3, HOXC4
14	cardiovascular system phenotype	MP:0005385	7.7	SHH, NOG, TBX4, HOXD3, HOXA3, GLI3
15	mortality/aging	MP:0010768	7.4	HOXD3, TEF, TBX4, NOG, SHH, TCOF1
16	cellular phenotype	MP:0005384	6.9	HOXD3, TBX4, NOG, SHH, TCOF1, SOX2
17	behavior/neurological phenotype	MP:0005386	6.8	GAL, NPY, SOX2, SHH, TEF, HOXC4
18	growth/size phenotype	MP:0005378	6.7	NOG, SHH, TCOF1, SOX2, NPY, GAL
19	nervous system phenotype	MP:0003631	6.0	TEF, TBX4, NOG, SHH, TCOF1, SOX2
20	homeostasis/metabolism phenotype	MP:0005376	5.8	TEF, TBX4, NOG, SHH, SOX2, NPY

Articles related to esophageal atresia:

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 factors in esophageal atresia, tracheo-esopha geal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX t ranscription factor gene cluster, and review of the literature. (19822228)	Shaw-Smith C.	2010	FOXF1
3	Evidence that polymorphic deletion of the glutathione S-transferase gene, GSTM1, is associated with esophageal atresia. (20740495)	Filonzi L.... Nonnis Marzano F.	2010	GSTP1, GSTT1, GSTM1
4	Intramural ganglion structures in esophageal atresia: a morphologic and immunohistochemical study. (20041008)	Zuccarello B.... Tovar J.A.	2009	ENO2, CHGA
5	Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? (17497718)	Wieczorek D.... Gillessen-Kaesbach G.	2007	TCOF1
6	Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. (16892407)	Zenteno J.C.... Aguinaga M.	2006	SOX2
7	Genetic players in esophageal atresia and tracheoesophageal fistula. (15917211)	Brunner H.G.... van Bokhoven H.	2005	CHD7
8	Familial syndromic esophageal atresia maps to 2p23-p24. (10677303)	Celli J.... Brunner H.G.	2000	MYCN, SIX2
9	Abnormalities of neuropeptides and neural markers in the esophagus of fetal rats with adriamycin-induced esophageal atresia. (9349759)	Cheng W.... Polak J.M.	1997	CALCA, NPY, VIP

Genes related to esophageal atresia according to GeneCards:

(show all 32)

id	Symbol	Description	Score	GeneCards Section Context
1	SHH	sonic hedgehog	11.1	Summaries
2	SOX2	SRY (sex determining region Y)-box 2	11.0	Publications
3	NOG	noggin	11.0
4	MYCN	v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)	11.0	Publications
5	FANCA	Fanconi anemia, complementation group A	11.0	Publications
6	CHD7	chromodomain helicase DNA binding protein 7	11.0	Publications
7	GLI3	GLI family zinc finger 3	11.0	Publications
8	IGLV1-51	immunoglobulin lambda variable 1-51	11.0	Disorders
9	SIX2	SIX homeobox 2	11.0	Publications
10	REXO1L1	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	11.0
11	FOXF1	forkhead box F1	11.0	Publications
12	HOXD3	homeobox D3	11.0
13	TBX4	T-box 4	11.0
14	TEF	thyrotrophic embryonic factor	11.0
15	HOXA3	homeobox A3	11.0
16	HOXC4	homeobox C4	11.0
17	HOXB3	homeobox B3	11.0
18	GTPBP5	GTP binding protein 5 (putative)	11.0
19	MTHFSD	methenyltetrahydrofolate synthetase domain containing	11.0
20	TCOF1	Treacher Collins-Franceschetti syndrome 1	11.0	Publications
21	FGF10	fibroblast growth factor 10	11.0
22	GAL	galanin prepropeptide	11.0	Publications
23	VIP	vasoactive intestinal peptide	11.0	Publications
24	SGCG	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	11.0
25	CHGA	chromogranin A (parathyroid secretory protein 1)	11.0	Publications
26	ENO2	enolase 2 (gamma, neuronal)	11.0	Publications
27	GRP	gastrin-releasing peptide	11.0	Publications
28	NPY	neuropeptide Y	11.0	Publications
29	CALCA	calcitonin-related polypeptide alpha	11.0	Publications
30	GSTM1	glutathione S-transferase mu 1	11.0	Publications
31	GSTP1	glutathione S-transferase pi 1	11.0	Publications
32	GSTT1	glutathione S-transferase theta 1	11.0	Publications

Pathways related to esophageal atresia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Platinum Pathway, Pharmacokinetics/Pharmacodynamics34	8.6	GSTM1, GSTP1, GSTT1
2	Naphthalene metabolism41	8.6	GSTT1, GSTP1, GSTM1
3	Naphthalene metabolism10	8.5	GSTT1, GSTP1, GSTM1
4	Glutathione metabolism20	8.5	GSTM1, GSTP1, GSTT1
5	Glutathione metabolism10	8.4	GSTT1, GSTP1, GSTM1
6	Glutathione metabolism41	8.2	GSTM1, GSTP1, GSTT1

Compounds related to esophageal atresia according to GeneDecks:

(show top 50)    (show all 99)

id	Compound	Score	Top Affiliating Genes
1	helospectin32	10.6	GAL
2	carbachol32 9 9	12.2	GRP
3	guanethidine32 9 9	11.8	CALCA, NPY
4	vanillylmandelic acid32 18	10.8	VIP, MYCN, CHGA, ENO2
5	cyclo(his-pro)32	9.7	NPY, GRP, GAL
6	dsip32	9.7	NPY, GRP, GAL
7	alpha msh32	9.6	GAL, VIP, NPY
8	enterostatin32 42	10.5	NPY, GRP, GAL
9	secretoneurin32	9.5	VIP, CHGA, NPY, GAL
10	diepoxybutane32	9.5	FANCA, GSTT1, GSTM1
11	trifluoroethanol32 9 9	11.4	NPY, GAL, VIP, GRP
12	peptidylglycine32	9.4	GRP, CHGA, NPY
13	oxyntomodulin32 42	10.4	VIP, NPY, GRP, CHGA
14	mibg32	9.4	VIP, CALCA, CHGA, ENO2
15	glibenclamide32 34	10.3	VIP, GRP, CALCA, GAL
16	phosphoramidon32 9 9	11.2	CALCA, GRP, VIP, NPY
17	clonidine32 9 9	11.0	CHGA, CALCA, NPY, GAL
18	catecholamine32	9.0	NPY, GAL, VIP, CHGA, ENO2, MYCN
19	methylchloride32	8.9	GSTP1, GSTM1, GSTT1
20	capsaicin32	8.9	VIP, GRP, CALCA, GAL, NPY
21	atropine32 9 9	10.9	GAL, NPY, CALCA, VIP, GRP
22	s-phenylmercapturic acid32	8.9	GSTP1, GSTT1, GSTM1
23	cumene hydroperoxide32	8.9	GSTM1, GSTT1, GSTP1
24	1,3-butadiene32	8.9	GSTM1, GSTP1, GSTT1
25	corticosterone32 18	9.8	GRP, VIP, NPY, GAL, CALCA
26	prostaglandin f2alpha32	8.8	GRP, VIP, CALCA, NPY
27	1-hydroxypyrene32	8.8	GSTP1, GSTM1, GSTT1
28	styrene32	8.7	GSTP1, GSTM1, GSTT1
29	choline32 9 18 9	11.7	ENO2, VIP, GRP, GAL, NPY
30	gaba32 42	9.6	GAL, VIP, CHGA, GRP, ENO2, NPY
31	tetrodotoxin32	8.6	CALCA, GAL, NPY, ENO2, VIP, GRP
32	trichloroethylene32	8.6	GSTP1, GSTT1, GSTM1
33	1-chloro-24-dinitrobenzene32	8.4	GSTM1, GSTP1, GSTT1
34	etoposide32 42 9 9	11.4	MYCN, ENO2, GAL, GSTP1, CHGA, GRP
35	octreotide32 42 9 9	11.2	ENO2, GAL, VIP, CHGA, GRP, NPY
36	5-hydroxytryptamine32	8.2	CHGA, VIP, GRP, ENO2, NPY, CALCA
37	acth32	8.2	GRP, GAL, NPY, VIP, CALCA, CHGA
38	formaldehyde32 18	9.2	CHGA, GSTT1, ENO2, NPY, GAL
39	norepinephrine32 9 18 9	11.2	ENO2, NPY, GRP, CALCA, CHGA, VIP
40	acetylcholine32 9 18 9	11.2	CHGA, VIP, GRP, ENO2, GAL, CALCA
41	forskolin32 42 9 9	11.1	ENO2, GAL, NPY, CALCA, GRP, CHGA
42	epinephrine32 9 18 9	10.7	GRP, GAL, CALCA, GSTP1, CHGA, VIP
43	vegf32	7.5	CHGA, VIP, NOG, GSTP1, GRP, CALCA
44	retinoic acid32 42 18	9.3	FGF10, ENO2, GSTP1, HOXA3, NOG, SOX2
45	adenylate32	7.3	VIP, GSTP1, GRP, CHGA, ENO2, NPY
46	lactate32	6.9	NPY, CALCA, ENO2, GSTP1, GSTM1, CHGA
47	creatinine32	6.8	GSTP1, CHGA, GSTM1, CALCA, ENO2, GRP
48	dopamine32 9 18 9	9.5	CALCA, GSTP1, NOG, GAL, ENO2, GRP
49	testosterone32 9 18 9	9.5	CALCA, GSTP1, CHGA, GSTM1, FGF10, GRP
50	estrogen32	6.2	CHGA, GSTT1, VIP, GRP, ENO2, CALCA

Cellular components related to esophageal atresia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:005634	6.1	REXO1L1, SOX2, TCOF1, SHH, TBX4, TEF

Biological processes related to esophageal atresia according to GeneDecks:

(show all 34)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of alpha-beta T cell differentiation	GO:046639	10.5	GLI3, SHH
2	positive regulation of neuroblast proliferation	GO:002052	10.4	GLI3, SHH, SOX2
3	hindgut morphogenesis	GO:007442	10.4	SHH, GLI3
4	bud outgrowth involved in lung branching	GO:060447	10.4	FGF10, SHH
5	regulation of prostatic bud formation	GO:060685	10.4	FGF10, SHH
6	male genitalia morphogenesis	GO:048808	10.3	SHH, FGF10
7	embryonic digit morphogenesis	GO:042733	10.3	SHH, NOG, GLI3, MYCN
8	negative regulation of canonical Wnt receptor signaling pathway	GO:090090	10.3	SOX2, SHH, NOG, GLI3
9	branching morphogenesis of a tube	GO:048754	10.3	SHH, FGF10, MYCN
10	lung lobe morphogenesis	GO:060463	10.3	SHH, FOXF1
11	pituitary gland development	GO:021983	10.3	SOX2, NOG, FGF10
12	glossopharyngeal nerve morphogenesis	GO:021615	10.3	HOXA3, HOXB3, HOXD3
13	lung development	GO:030324	10.3	SHH, GLI3, FOXF1, MYCN
14	smoothened signaling pathway	GO:007224	10.3	FOXF1, GLI3, SHH
15	pancreas development	GO:031016	10.2	FOXF1, FGF10, SHH
16	metanephros development	GO:001656	10.2	SHH, GLI3, FGF10
17	epithelial cell proliferation involved in salivary gland morphogenesis	GO:060664	10.2	SHH, FGF10
18	somatic stem cell maintenance	GO:035019	10.2	SOX2, NOG, FGF10
19	thymus development	GO:048538	10.2	SHH, HOXA3, FGF10
20	renal system development	GO:072001	10.2	FOXF1, SHH
21	embryonic digestive tract morphogenesis	GO:048557	10.2	FOXF1, FGF10, GLI3, SHH
22	organ formation	GO:048645	10.2	SHH, HOXA3
23	lung epithelium development	GO:060428	10.2	SHH, FGF10
24	embryonic skeletal system morphogenesis	GO:048704	10.0	HOXD3, HOXB3, HOXA3, GLI3, MYCN
25	cartilage development	GO:051216	9.9	NOG, HOXD3, HOXC4, HOXB3, HOXA3
26	artery development	GO:060840	9.9	GLI3, SHH
27	thyroid gland development	GO:030878	9.9	FGF10, HOXA3, HOXB3, HOXD3, SHH
28	odontogenesis of dentin-containing tooth	GO:042475	9.8	SHH, GLI3, FGF10
29	anterior/posterior pattern specification	GO:009952	9.8	SHH, HOXD3, HOXC4, HOXB3, HOXA3, GLI3
30	negative regulation of transcription from RNA polymerase II promoter	GO:000122	9.8	SOX2, SHH, NOG, HOXB3, GLI3, FOXF1
31	positive regulation of transcription from RNA polymerase II promoter	GO:045944	9.6	SIX2, SOX2, SHH, NOG, GLI3, FGF10
32	feeding behavior	GO:007631	9.5	CALCA, NPY, GAL
33	negative regulation of apoptotic process	GO:043066	9.2	SHH, NOG, GLI3, FGF10, GSTP1
34	neuropeptide signaling pathway	GO:007218	9.1	GAL, NPY, CALCA, GRP

Molecular functions related to esophageal atresia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	neuropeptide hormone activity	GO:005184	9.0	VIP, GRP, NPY, GAL
2	sequence-specific DNA binding	GO:043565	8.8	SIX2, SOX2, TEF, HOXD3, HOXC4, HOXA3
3	sequence-specific DNA binding transcription factor activity	GO:003700	8.6	SIX2, SOX2, TBX4, TEF, HOXD3, HOXC4
4	glutathione transferase activity	GO:004364	8.5	GSTM1, GSTP1, GSTT1