MCID: ESP035
MIFTS: 55

Esophagitis, Eosinophilic, 1

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Esophagitis, Eosinophilic, 1

MalaCards integrated aliases for Esophagitis, Eosinophilic, 1:

Name: Esophagitis, Eosinophilic, 1 53 13
Eosinophilic Esophagitis 12 55 36 41 14 69
Esophagitis, Eosinophilic; Ee 53
Esophagitis, Eosinophilic 53
Eoe1 53
Eoe 55
Ee 53

Characteristics:

Orphanet epidemiological data:

55
eosinophilic esophagitis
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Canada),1-5/10000 (Japan),1-5/10000 (Spain),1-5/10000 (Europe),1-5/10000 (United States),1-9/100000 (Switzerland),1-5/10000 (Switzerland); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
multifactorial

Miscellaneous:
predominantly occurs in young males with high rate of atopic disease


Classifications:



External Ids:

OMIM 53 610247
Disease Ontology 12 DOID:13922
ICD10 32 K20.0
ICD9CM 34 530.13
MeSH 41 D057765
NCIt 46 C27105
SNOMED-CT 64 235599003
Orphanet 55 ORPHA73247
MESH via Orphanet 42 D057765
UMLS via Orphanet 70 C0341106
ICD10 via Orphanet 33 K20
MedGen 39 C0341106
KEGG 36 H01361
UMLS 69 C0341106

Summaries for Esophagitis, Eosinophilic, 1

OMIM : 53 Eosinophilic esophagitis (EOE) has an incidence of approximately 1 per 10,000 people. Symptoms include difficulty feeding, failure to thrive, vomiting, epigastric or chest pain, dysphagia, and food impaction. Individuals with EOE are predominantly young males with a high rate of atopic disease, and the diagnosis is made by endoscopy and biopsy findings of isolated eosinophils in the esophagus (summary by Rothenberg et al., 2010). (610247)

MalaCards based summary : Esophagitis, Eosinophilic, 1, also known as eosinophilic esophagitis, is related to encephalopathy, ethylmalonic and esophagitis, and has symptoms including edema, chest pain and dysphagia. An important gene associated with Esophagitis, Eosinophilic, 1 is RDH12 (Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)), and among its related pathways/superpathways are Jak-STAT signaling pathway (KEGG) and Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions. The drugs Budesonide and Dexlansoprazole have been mentioned in the context of this disorder. Affiliated tissues include testes and esophagus.

Disease Ontology : 12 An esophagitis characterized by inflammation involving eosinophils located in esophagus.

Related Diseases for Esophagitis, Eosinophilic, 1

Diseases in the Esophagitis, Eosinophilic, 1 family:

Esophagitis, Eosinophilic, 2

Diseases related to Esophagitis, Eosinophilic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 encephalopathy, ethylmalonic 33.5 ABCC6 IMPG2 RDH12
2 esophagitis 29.4 CCL11 CCL26 CCR3 DSG1 IL13 IL5
3 esophagitis, eosinophilic, 2 12.1
4 eosinophilic enteropathy 11.2
5 extraskeletal ewing sarcoma 10.9
6 pulmonary fibrosis, idiopathic 10.9
7 cystic fibrosis 10.9
8 macs syndrome 10.9
9 coccidioidomycosis 10.9
10 hemophilia 10.9
11 retinitis pigmentosa 56 10.7 IMPG2 RDH12
12 fungal esophagitis 10.6 ATP12A ATP4A
13 bladder calculus 10.6 ATP12A ATP4A
14 gastrointestinal neuroendocrine benign tumor 10.6 ATP12A ATP4A
15 gastric neuroendocrine neoplasm 10.6 ATP12A ATP4A
16 neonatal candidiasis 10.6 ATP12A ATP4A
17 photoallergic dermatitis 10.6 ATP12A ATP4A
18 squamous papillomatosis 10.6 ATP12A ATP4A
19 acute laryngitis 10.6 ATP12A ATP4A
20 gastroduodenal crohn's disease 10.6 ATP12A ATP4A
21 toxic megacolon 10.6 ATP12A ATP4A
22 aspiration pneumonitis 10.6 ATP12A ATP4A
23 gastric antral vascular ectasia 10.6 ATP12A ATP4A
24 cytokine deficiency 10.6 IL13 IL5
25 esophageal candidiasis 10.6 ATP12A ATP4A
26 postsurgical hypothyroidism 10.6 ATP12A ATP4A
27 rumination disorder 10.6 ATP12A ATP4A
28 spiradenoma 10.6 ABCC6 IMPG2 RDH12
29 laryngeal disease 10.6 ATP12A ATP4A
30 duodenitis 10.6 ATP12A ATP4A
31 congenital disorder of deglycosylation 10.6 ATP12A ATP4A
32 angioimmunoblastic lymphadenopathy with dysproteinemia 10.6 IL13 IL5
33 bile reflux 10.6 ATP12A ATP4A
34 pemphigoid gestationis 10.6 CCL11 IL5
35 granulomatous gastritis 10.6 ATP12A ATP4A
36 active peptic ulcer disease 10.6 ATP12A ATP4A
37 dyskinesia of esophagus 10.5 ATP12A ATP4A
38 respiratory syncytial virus infectious disease 10.5 IL13 IL5
39 ischemic neuropathy 10.5 ATP12A ATP4A
40 anismus 10.5 ATP12A ATP4A
41 capillary disease 10.5 ATP12A ATP4A
42 duodenal disease 10.5 ATP12A ATP4A
43 paragonimiasis 10.5 IL13 IL5
44 chronic meningitis 10.5 CCL11 IL5
45 peptic esophagitis 10.5 ATP12A ATP4A EPC2
46 hernia, hiatus 10.5 ATP12A ATP4A IER3IP1
47 esophageal atresia/tracheoesophageal fistula 10.5 ATP12A ATP4A
48 gastrointestinal allergy 10.4 CCL11 IL5 TSLP
49 angiostrongyliasis 10.4 CCL11 IL13 IL5
50 strongyloidiasis 10.4 CCL11 IL13 IL5

Graphical network of the top 20 diseases related to Esophagitis, Eosinophilic, 1:



Diseases related to Esophagitis, Eosinophilic, 1

Symptoms & Phenotypes for Esophagitis, Eosinophilic, 1

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
vomiting
epigastric pain
dysphagia
difficulty feeding
food impaction
more
Growth Other:
failure to thrive


Clinical features from OMIM:

610247

Human phenotypes related to Esophagitis, Eosinophilic, 1:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0000969
2 chest pain 55 31 frequent (33%) Frequent (79-30%) HP:0100749
3 dysphagia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002015
4 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
5 spontaneous esophageal perforation 55 31 occasional (7.5%) Occasional (29-5%) HP:0005203
6 esophageal stricture 55 31 hallmark (90%) Very frequent (99-80%) HP:0002043
7 esophageal obstruction 55 31 hallmark (90%) Very frequent (99-80%) HP:0005240
8 vomiting 31 HP:0002013
9 epigastric pain 31 HP:0410019
10 failure to thrive 31 HP:0001508
11 esophagitis 31 HP:0100633
12 abnormality of esophagus morphology 55 Very frequent (99-80%)

UMLS symptoms related to Esophagitis, Eosinophilic, 1:


epigastric pain, vomiting

Drugs & Therapeutics for Esophagitis, Eosinophilic, 1

Drugs for Esophagitis, Eosinophilic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4,Phase 3,Phase 2 51333-22-3 5281004 63006
2
Dexlansoprazole Approved, Investigational Phase 4,Phase 2,Phase 1 138530-94-6, 103577-45-3 9578005
3
Lansoprazole Approved, Investigational Phase 4,Phase 2,Phase 1 103577-45-3 3883
4
Menthol Approved Phase 4 2216-51-5 16666
5 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Cromolyn Sodium Phase 4
7 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Allergic Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Autonomic Agents Phase 4,Phase 3,Phase 2
11 Bronchodilator Agents Phase 4,Phase 3,Phase 2
12 Dermatologic Agents Phase 4,Phase 3,Phase 2
13
Fluticasone Phase 4,Phase 3,Phase 2 80474-14-2, 90566-53-3 22833648 62924
14 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
15 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
16 Hormones Phase 4,Phase 3,Phase 2,Phase 1
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
19 Antacids Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
20 Anti-Ulcer Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
21 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
22 Proton pump inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
23 Olive Nutraceutical Phase 4
24 Soy Bean Nutraceutical Phase 4,Phase 2,Phase 3
25
Montelukast Approved Phase 3,Phase 1 158966-92-8 5281040
26
Esomeprazole Approved, Investigational Phase 2, Phase 3 161796-78-7, 119141-88-7 9579578 4594
27 Leukotriene Antagonists Phase 3,Phase 1
28
Omalizumab Approved, Investigational Phase 2,Phase 1 242138-07-4
29
Infliximab Approved Phase 2 170277-31-3
30
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
31
Losartan Approved Phase 2 114798-26-4 3961
32
Bethanechol Approved Phase 2 674-38-4 2370
33 Indoleacetic Acids Phase 2
34 Antibodies Phase 2,Phase 1
35 Antibodies, Monoclonal Phase 2,Phase 1
36 Immunoglobulins Phase 2,Phase 1
37 Antirheumatic Agents Phase 2
38 interferons Phase 1, Phase 2
39 Neurotransmitter Agents Phase 2
40 Pharmaceutical Solutions Phase 2
41 Angiotensin II Type 1 Receptor Blockers Phase 2
42 Angiotensin Receptor Antagonists Phase 2
43 Angiotensinogen Phase 2
44 Anti-Arrhythmia Agents Phase 2
45 Antihypertensive Agents Phase 2
46 Vasoconstrictor Agents Phase 2
47 mometasone furoate Phase 2
48 Cholinergic Agents Phase 2
49
Lactulose Approved Phase 1 4618-18-2 11333
50
Mannitol Approved, Investigational Phase 1 69-65-8 6251 453

Interventional clinical trials:

(show top 50) (show all 123)

# Name Status NCT ID Phase Drugs
1 Oral Cromolyn Sodium for the Treatment of Eosinophilic Esophagitis Unknown status NCT02371941 Phase 4 oral cromolyn sodium;Placebo
2 Dietetic Versus Topical Steroids for Pediatric Eosinophilic Esophagitis Unknown status NCT01846962 Phase 4 Budesonide;Fluticasone
3 Budesonide Versus Fluticasone for Treatment of Eosinophilic Esophagitis Recruiting NCT02019758 Phase 4 Oral Viscous Budesonide;Fluticasone MDI;Placebo slurry;Placebo inhaler
4 The Frequency of Eosinophilic Esophagitis in Patients With Heartburn That is Refractory to Proton Pump Inhibitors Terminated NCT01404832 Phase 4 Treat with lansoprazole 30 mg BID for 2 weeks, endoscopic examination with esophageal biopsy for patients with persistent symptoms
5 Eosinophilic Esophagitis Treatment: Montelukast vs Fluticasone Unknown status NCT01702701 Phase 3 Montelukast;Fluticasone
6 Open-Label Extension Study of Reslizumab in Pediatric Subjects With Eosinophilic Esophagitis Completed NCT00635089 Phase 3 reslizumab
7 Budesonide Orodispersible Tablet vs. Placebo in Active Eosinophilic Esophagitis Completed NCT02434029 Phase 3 Budesonide 1mg orodispersible tablet twice daily;Placebo orodispersible tablet twice daily
8 Efficacy and Safety Study of Reslizumab to Treat Eosinophilic Esophagitis in Subjects Aged 5 to 18 Years Completed NCT00538434 Phase 2, Phase 3
9 A Study Comparing Swallowed Flovent and Placebo in Patients With Eosinophilic Disorders Completed NCT00266578 Phase 3 Fluticasone Propionate
10 The Role Of Gastroesophageal Reflux Disease (GERD) in Eosinophilic Esophagitis Completed NCT00728481 Phase 2, Phase 3 Esomeprazole;Budesonide
11 Maintenance of Remission With Budesonide Orodispersible Tablets vs. Placebo in Eosinophilic Esophagitis Recruiting NCT02493335 Phase 3 Budesonide 0.5mg orodispersible tablet twice daily;Budesonide 1mg orodispersible tablet twice daily;Placebo orodispersible tablet twice daily
12 Continuation Study With Budesonide Oral Suspension (BOS) for Adolescent and Adult Subjects With Eosinophilic Esophagitis (EoE) Recruiting NCT03245840 Phase 3 Budesonide oral suspension
13 A Placebo- Controlled Study in Adolescents and Adults With Eosinophilic Esophagitis (EoE) Measuring Histologic Response and Determine if Reduction in Dysphagia is Achieved Recruiting NCT02605837 Phase 3 OBS;Placebo
14 An Extension Study to Evaluate Maintenance of Efficacy and Long-term Treatment Effect of Oral Budesonide Suspension (OBS) in Adults and Adolescents With Eosinophilic Esophagitis (EoE) Recruiting NCT02736409 Phase 3 Oral Budesonide Suspension (OBS);Placebo
15 Eosinophilic Esophagitis (EoE) Intervention Trial-Randomized 1 Food Elimination vs. 4 Food Elimination Diet Followed by Swallowed Glucocorticoids Recruiting NCT02610816 Phase 2, Phase 3 Flovent (fluticasone propionate)
16 SOFEED: Six Food vs. One Food Eosinophilic Esophagitis Diet Study Recruiting NCT02778867 Phase 2, Phase 3 Flovent
17 Safety and Efficacy of Three Doses of Oral Fluticasone Propionate in Adults With Eosinophilic Esophagitis Not yet recruiting NCT02873468 Phase 2, Phase 3 EMS Fluticasone 1;EMS Fluticasone 2;EMS Fluticasone 3
18 A Study of Flovent in Patients With Eosinophilic Esophagitis Completed NCT00426283 Phase 2 Flovent
19 Dose-Ranging Study of Oral Viscous Budesonide in Pediatrics With Eosinophilic Esophagitis Completed NCT00762073 Phase 2 budesonide;placebo
20 Budesonide for Eosinophilic Esophagitis Completed NCT00271349 Phase 2 Budesonide
21 Topical Steroid Treatment for Eosinophilic Esophagitis Completed NCT00275561 Phase 2 Fluticasone;Placebo
22 Budesonide Effervescent Tablets vs. Viscous Budesonide Suspension vs. Placebo in Eosinophilic Esophagitis Completed NCT02280616 Phase 2 low dose budesonide tablet;high dose budesonide tablet;high dose budesonide suspension;Placebo
23 Dose Ranging Study of RPC4046 in Eosinophilic Esophagitis Completed NCT02098473 Phase 2 RPC4046;Placebo
24 Proof of Concept Study of OC000459 in Eosinophilic Esophagitis Completed NCT01056783 Phase 2 OC000459;Placebo
25 Use of Topical Budesonide in the Treatment of Eosinophilic Esophagitis Completed NCT00638456 Phase 2 Budesonide plus Prevacid;placebo plus Prevacid
26 Safety and Tolerability Study of Oral EUR-1100 to Treat Eosinophilic Esophagitis Completed NCT01386112 Phase 1, Phase 2 EUR-1100;placebo
27 Efficacy and Safety of QAX576 in Patients With Eosinophilic Esophagitis Completed NCT01022970 Phase 2 QAX576 placebo;QAX576
28 Study of Dupilumab in Adult Patients With Active Eosinophilic Esophagitis (EoE) Completed NCT02379052 Phase 2 Dupilumab;Placebo
29 A Pilot Study of the Treatment of Eosinophilic Esophagitis With Omalizumab Completed NCT00123630 Phase 2 omalizumab;Placebo
30 Comparison of Esomeprazole to Aerosolized, Swallowed Fluticasone for Eosinophilic Esophagitis Completed NCT00123656 Phase 2 esomeprazole;fluticasone
31 OBS in Adolescent and Adults With EOE: A Phase II, Randomized, Double-Blind, Placebo Controlled, Study With an Open Label Extension Completed NCT01642212 Phase 2 Oral Budesonide Suspension (MB-9);Placebo
32 Off Label Use of Infliximab in Adult Patients With Severe Eosinophilic Esophagitis Completed NCT00523354 Phase 2 Infliximab
33 An Evaluation Of Mepolizumab In Therapy Of Eosinophilic Oesophagitis In Adult Patients Completed NCT00274703 Phase 2 mepolizumab
34 Intravenous Mepolizumab In Children With Eosinophilic Esophagitis Completed NCT00358449 Phase 2 mepolizumab
35 Anti-Interleukin-5 (IL-5) Study for Hypereosinophilic Syndrome Completed NCT00266565 Phase 1, Phase 2 Mepolizumab
36 Omalizumab to Treat Eosinophilic Gastroenteritis Completed NCT00084097 Phase 2 Omalizumab
37 Anti-Interleukin-5 Antibody to Treat Hypereosinophilic Syndrome Completed NCT00017862 Phase 2 SCH55700
38 Efficacy, Safety, and Pharmacokinetics of APT-1011 in Subjects With Eosinophilic Esophagitis (EoE) Recruiting NCT03191864 Phase 2 APT-1011;Placebo
39 Eosinophilic Esophagitis Clinical Therapy Comparison Trial Recruiting NCT01821898 Phase 2 Oral Budesonide
40 An Open-Label Trial of Losartan Potassium in Participants With Eosinophilic Esophagitis (EoE) Recruiting NCT03029091 Phase 2 Losartan Potassium
41 Milk Patch for Eosinophilic Esophagitis Active, not recruiting NCT02579876 Phase 2 Viaskin Milk 500 mcg;Viaskin Placebo
42 Testing Effectiveness of Losartan in Patients With EoE With or Without a CTD Active, not recruiting NCT01808196 Phase 2 Losartan Potassium
43 Mometasone-furoate for Treatment of Eosinophilic Esophagitis - a Randomized Placebo Controlled Study. Enrolling by invitation NCT02113267 Phase 2 Mometasone furoate;Placebo
44 Benralizumab for Eosinophilic Gastritis Not yet recruiting NCT03473977 Phase 1, Phase 2
45 Bethanechol for Eosinophilic Esophagitis Terminated NCT02058537 Phase 2 Bethanechol
46 Predictors of Proton Pump Inhibitor (PPI) Response in Eosinophilic Esophagitis Withdrawn NCT01479231 Phase 1, Phase 2 dexlansoprazole
47 Evaluation of the Safety and Effectiveness of Tailored Transoral Incisionless Fundoplication (TIF) Using EsophyX for the Treatment of GERD Withdrawn NCT01025739 Phase 2
48 Observational Field Study of Acute Esophageal Food Bolus Impaction by Mean Esophageal Manometry and 24h-pH-monitoring Unknown status NCT01447823 Phase 1
49 Intestinal Permeability in Response to Treatment in Eosinophilic Esophagitis Patients Completed NCT01641913 Phase 1
50 Identifying Responders to Xolair (Omalizumab) Using Eosinophilic Esophagitis as a Disease Model Completed NCT01040598 Phase 1

Search NIH Clinical Center for Esophagitis, Eosinophilic, 1

Cochrane evidence based reviews: eosinophilic esophagitis

Genetic Tests for Esophagitis, Eosinophilic, 1

Anatomical Context for Esophagitis, Eosinophilic, 1

MalaCards organs/tissues related to Esophagitis, Eosinophilic, 1:

38
Testes

The Foundational Model of Anatomy Ontology organs/tissues related to Esophagitis, Eosinophilic, 1:

18
Esophagus

Publications for Esophagitis, Eosinophilic, 1

Articles related to Esophagitis, Eosinophilic, 1:

(show top 50) (show all 678)
# Title Authors Year
1
Determinant factors of quality of life in adult patients with eosinophilic esophagitis. ( 29435312 )
2018
2
Clinical Translation of Tethered Confocal Microscopy Capsule for Unsedated Diagnosis of Eosinophilic Esophagitis. ( 29422678 )
2018
3
Is eosinophilic esophagitis an equivalent of pollen allergic asthma? Analysis of biopsies and therapy guided by component resolved diagnosis. ( 29338961 )
2018
4
Prolonged Time to Diagnosis of Eosinophilic Esophagitis Despite Increasing Knowledge of the Disease. ( 29374615 )
2018
5
Eosinophilic Esophagitis Through the Flexible Endoscope and the Lens of a Photographer in the Amazon. ( 29427131 )
2018
6
Rising incidence and prevalence of adult eosinophilic esophagitis in midwestern Spain (2007-2016). ( 29435311 )
2018
7
Eosinophilic Esophageal Myositis a Plausible Cause of Histological Changes of Primary Jackhammer Esophagus: A Case Report. ( 29311727 )
2018
8
Combined and Alternating Topical Steroids and Food Elimination Diet for the Treatment of Eosinophilic Esophagitis. ( 29380175 )
2018
9
Is eosinophilic esophagitis a member of the atopic march? ( 29413330 )
2018
10
Eosinophilic esophagitis and esophageal atresia: coincidence or causality? ( 29333824 )
2018
11
Understanding fibrosis in eosinophilic esophagitis: Are we there yet? ( 29377264 )
2018
12
Integrin I+M activation and upregulation on esophageal eosinophils and periostin-mediated eosinophil survival in eosinophilic esophagitis. ( 29424023 )
2018
13
Eosinophilic esophagitis and symptoms possibly related to eosinophilic esophagitis in oral immunotherapy. ( 29397272 )
2018
14
Airborne and food sensitization patterns in children and adults with eosinophilic esophagitis. ( 29381255 )
2018
15
Practice Differences in the Diagnosis and Management of Eosinophilic Esophagitis among Adult and Pediatric Gastroenterologists in Israel. ( 29394215 )
2018
16
Quail egg homogenate alleviates food allergy induced eosinophilic esophagitis like disease through modulating PAR-2 transduction pathway in peanut sensitized mice. ( 29348584 )
2018
17
Clinicopathologic and gene expression analysis of initial biopsies from patients with eosinophilic esophagitis refractory to therapy. ( 28882697 )
2017
18
Lack of Knowledge and Low Readiness for Health Care Transition in Eosinophilic Esophagitis and Eosinophilic Gastroenteritis. ( 28644350 )
2017
19
Abnormal Responses to Local Esophageal Food Allergen Injections in Adult Patients with Eosinophilic Esophagitis. ( 28870530 )
2017
20
Eosinophilic Esophagitis After Egg Oral Immunotherapy in an Adult With Egg-Allergy and Egg-Bird Syndrome. ( 28731415 )
2017
21
Herpes Esophagitis With Concomitant Eosinophilic Esophagitis in a Child: A Case Report. ( 28884583 )
2017
22
Parental perception of anxiety in children with eosinophilic esophagitis in a tertiary care center. ( 28866305 )
2017
23
Eosinophilic esophagitis linked to pollen food syndrome. ( 28888845 )
2017
24
Eosinophilic esophagitis: current evidence-based diagnosis and treatment in children and adults. ( 28895370 )
2017
25
Eosinophilic Esophagitis vs Proton Pump Inhibitor-Responsive Esophageal Eosinophilia: Transcriptome Analysis. ( 28063872 )
2017
26
Successful Esophageal Dilation of Eosinophilic Esophagitis (EoE) Patients With a Previous Postdilation Complication: Start Low and Go Slow. ( 28885305 )
2017
27
Serum Biomarkers for the Diagnosis of Eosinophilic Esophagitis and Eosinophilic Gastroenteritis. ( 28943560 )
2017
28
Update on dietary therapy for eosinophilic esophagitis in children and adults. ( 27998193 )
2017
29
Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. ( 28405153 )
2017
30
Eosinophilic Esophagitis and Esophageal Granular Cell Tumor: An Unexpected Association. ( 28296675 )
2017
31
Detailed Histologic Evaluation of Eosinophilic Esophagitis in Pediatric Patients Presenting with Dysphagia or Abdominal Pain and Comparison of the Histology between the Two Groups. ( 29392125 )
2017
32
Calpain-14 and its association with eosinophilic esophagitis. ( 28131390 )
2017
33
Editorial: Widening the Use of the Functional Lumen Imaging Probe to Kids With Eosinophilic Esophagitis: Esophageal Narrowing is not Just an Adult Problem. ( 28874863 )
2017
34
Nutritional State and Feeding Behaviors of Children With Eosinophilic Esophagitis and Gastroesophageal Reflux Disease. ( 28906318 )
2017
35
Eosinophilic esophagitis in children under the age of 5 years: Clinical characteristics. ( 28865084 )
2017
36
Esophageal dilation for eosinophilic esophagitis: it's safe! WhyA aren't we doing more dilations? ( 28917340 )
2017
37
Discovery and characterization of a novel humanized anti-IL-15 antibody and its relevance for the treatment of refractory celiac disease and eosinophilic esophagitis. ( 28581883 )
2017
38
Herpes Simplex Virus Esophagitis in Immunocompetent Children: A Harbinger of Eosinophilic Esophagitis? ( 28937540 )
2017
39
Association of eosinophilic esophagitis and food pollen allergy syndrome. ( 27856094 )
2017
40
HISTOLOGICAL FEATURES OF EOSINOPHILIC ESOPHAGITIS IN CHILDREN AND ADOLESCENTS. ( 28954044 )
2017
41
Dilation of Pediatric Eosinophilic Esophagitis - Adverse Events and Short Term Outcomes. ( 28055990 )
2016
42
Proton pump inhibitor-responsive esophageal eosinophilia does not preclude food-responsive eosinophilic esophagitis. ( 26318073 )
2016
43
Eosinophilic esophagitis during peanut oral immunotherapy with omalizumab. ( 28017628 )
2016
44
Systematic review of outcome measures in pediatric eosinophilic esophagitis treatment trials. ( 27582776 )
2016
45
Lack of Knowledge and Low Readiness for Healthcare Transition in Eosinophilic Esophagitis and Eosinophilic Gastroenteritis. ( 27657884 )
2016
46
Eosinophilic esophagitis: Update in diagnosis and management. Position paper by the Italian Society of Gastroenterology and Gastrointestinal Endoscopy (SIGE). ( 27979389 )
2016
47
Montelukast Does not Maintain Symptom Reductions Following Topical Steroid Therapy for Eosinophilic Esophagitis. ( 27650328 )
2016
48
Oral immunotherapy for peanut allergy induces eosinophilic esophagitis: three pediatric case reports. ( 26888330 )
2016
49
Topical glucocorticoid vs. diet therapy in eosinophilic esophagitis: the need for better treatment options. ( 27206496 )
2016
50
Endoscopy in eosinophilic esophagitis: within or beyond the reach of the endoscope? ( 27571584 )
2016

Variations for Esophagitis, Eosinophilic, 1

ClinVar genetic disease variations for Esophagitis, Eosinophilic, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13B NM_017890.4(VPS13B): c.2591C> A (p.Ser864Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140936527 GRCh37 Chromosome 8, 100286501: 100286501
2 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
3 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh37 Chromosome 16, 16256967: 16256967
4 CNGA3 NM_001298.2(CNGA3): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic/Likely pathogenic rs552069173 GRCh37 Chromosome 2, 99013321: 99013321
5 CNGB3 NM_019098.4(CNGB3): c.1285delT (p.Ser429Leufs) deletion Pathogenic/Likely pathogenic rs776896038 GRCh37 Chromosome 8, 87645015: 87645015
6 ABCC6 NM_001171.5(ABCC6): c.4104delC (p.Asp1368Glufs) deletion Pathogenic rs72664237 GRCh38 Chromosome 16, 16154732: 16154732
7 IMPG2 NM_016247.3(IMPG2): c.1680T> A (p.Tyr560Ter) single nucleotide variant Pathogenic rs758291149 GRCh37 Chromosome 3, 100963495: 100963495

Expression for Esophagitis, Eosinophilic, 1

Search GEO for disease gene expression data for Esophagitis, Eosinophilic, 1.

Pathways for Esophagitis, Eosinophilic, 1

GO Terms for Esophagitis, Eosinophilic, 1

Cellular components related to Esophagitis, Eosinophilic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 ATP4A CCL11 CCL26 EPX IL13 IL5

Biological processes related to Esophagitis, Eosinophilic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.55 CCL11 CCL26 IL13 IL5 TSLP
2 chemokine-mediated signaling pathway GO:0070098 9.43 CCL11 CCL26 CCR3
3 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP12A ATP4A
4 positive regulation of endothelial cell proliferation GO:0001938 9.13 CCL11 CCL26 CCR3
5 inflammatory response GO:0006954 9.02 CCL11 CCL26 CCR3 IL13 IL5

Molecular functions related to Esophagitis, Eosinophilic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP12A ATP4A
2 CCR3 chemokine receptor binding GO:0031728 9.16 CCL11 CCL26
3 cytokine activity GO:0005125 9.02 CCL11 CCL26 IL13 IL5 TSLP
4 hydrogen:potassium-exchanging ATPase activity GO:0008900 8.96 ATP12A ATP4A

Sources for Esophagitis, Eosinophilic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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....