EE
MCID: ESP035
MIFTS: 60

Esophagitis, Eosinophilic, 1 (EE)

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Esophagitis, Eosinophilic, 1

MalaCards integrated aliases for Esophagitis, Eosinophilic, 1:

Name: Esophagitis, Eosinophilic, 1 57 13
Eosinophilic Esophagitis 12 59 37 43 44 15 73
Esophagitis, Eosinophilic; Ee 57
Esophagitis, Eosinophilic 57
Eoe1 57
Eoe 59
Ee 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
multifactorial

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


Classifications:



External Ids:

OMIM 57 610247
Disease Ontology 12 DOID:13922
ICD10 33 K20.0
ICD9CM 35 530.13
MeSH 44 D057765
NCIt 50 C27105
Orphanet 59 ORPHA73247
ICD10 via Orphanet 34 K20
MESH via Orphanet 45 D057765
UMLS via Orphanet 74 C0341106
MedGen 42 C0341106
KEGG 37 H01361
UMLS 73 C0341106

Summaries for Esophagitis, Eosinophilic, 1

MedlinePlus : 43 What is eosinophilic esophagitis (EoE)? Eosinophilic esophagitis (EoE) is a chronic disease of the esophagus. Your esophagus is the muscular tube that carries food and liquids from your mouth to the stomach. If you have EoE, white blood cells called eosinophils build up in your esophagus. This causes damage and inflammation, which can cause pain and may lead to trouble swallowing and food getting stuck in your throat. EoE is rare. But because it is a newly recognized disease, more people are now getting diagnosed with it. Some people who think that they have reflux (GERD) may actually have EoE. What causes eosinophilic esophagitis (EoE)? Researchers are not certain about the exact cause of EoE. They think that it is an immune system/allergic reaction to foods or to substances in your environment, such as dust mites, animal dander, pollen, and molds. Certain genes may also play a role in EoE. Who is at risk for eosinophilic esophagitis(EoE)? EoE can affect anyone, but it is more common in people who Are male Are Caucasian Have other allergic diseases, such as hay fever, eczema, asthma and food allergies Have family members with EoE What are the symptoms of eosinophilic esophagitis (EoE)? The most common symptoms of EoE can depend on your age. In infants and toddlers: Feeding problems Vomiting Poor weight gain and growth Reflux that does not get better with medicines In older children: Vomiting Abdominal pain Trouble swallowing, especially with solid foods Reflux that does not get better with medicines Poor appetite In adults: Trouble swallowing, especially with solid foods Food getting stuck in the esophagus Reflux that does not get better with medicines Heartburn Chest pain How is eosinophilic esophagitis (EoE) diagnosed? To diagnose EoE, your doctor will Ask about your symptoms and medical history. Since other conditions can have the same symptoms of EoE, it is important for your doctor to take a thorough history. Do an upper gastrointestinal (GI) endoscopy. An endoscope is a long, flexible tube with a light and camera at the end of it. Your doctor will run the endoscope down your esophagus and look at it. Some signs that you might have EoE include white spots, rings, narrowing, and inflammation in the esophagus. However, not everyone with EoE has those signs, and sometimes they can be signs of a different esophagus disorder. Do a biopsy. During the endoscopy, the doctor will take small tissue samples from your esophagus. The samples will be checked for a high number of eosinophils. This is the only way to make a diagnosis of EoE. Do other tests as needed. You may have blood tests to check for other conditions. If you do have EoE, you may have blood or other types of tests to check for specific allergies. What are the treatments for eosinophilic esophagitis (EoE)? There is no cure for EoE. Treatments can manage your symptoms and prevent further damage. The two main types of treatments are medicines and diet. Medicines used to treat EoE are Steroids, which can help control inflammation. These are usually topical steroids, which you swallow either from an inhaler or as a liquid. Sometimes doctors prescribe oral steroids (pills) to treat people who have serious swallowing problems or weight loss. Acid suppressors such as proton pump inhibitors (PPIs), which may help with reflux symptoms and decrease inflammation. Dietary changes for EoE include Elimination diet. If you are on an elimination diet, you stop eating and drinking certain foods and beverages for several weeks. If you are feeling better, you add the foods back to your diet one at a time. You have repeat endoscopies to see whether or not you are tolerating those foods. There are different types of elimination diets: With one type, you first have an allergy test. Then you stop eating and drinking the foods you are allergic to. For another type, you eliminate foods and drinks that commonly cause allergies, such as dairy products, egg, wheat, soy, peanuts, tree nuts and fish/shellfish. Elemental diet. With this diet, you stop eating and drinking all proteins. Instead, you drink an amino acid formula. Some people who do not like the taste of the formula use a feeding tube instead. If your symptoms and inflammation go away completely, you may be able to try adding foods back one at a time, to see whether you can tolerate them. Which treatment your health care provider suggests depends on different factors, including your age. Some people may use more than one kind of treatment. Researchers are still trying to understand EoE and how best to treat it. If your treatment is not working well enough and you have narrowing of the esophagus, you may need dilation. This is a procedure to stretch the esophagus. This makes it easier for you to swallow.

MalaCards based summary : Esophagitis, Eosinophilic, 1, also known as eosinophilic esophagitis, is related to hypereosinophilic syndrome and peptic esophagitis, and has symptoms including vomiting and epigastric pain. An important gene associated with Esophagitis, Eosinophilic, 1 is BANCR (BRAF-Activated Non-Protein Coding RNA), and among its related pathways/superpathways are JAK-STAT signaling pathway (KEGG) and Immune response IFN gamma signaling pathway. Affiliated tissues include testes, bone and t cells, and related phenotypes are dysphagia and gastroesophageal reflux

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

OMIM : 57 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)

Wikipedia : 76 Eosinophilic esophagitis (EoE, also spelled eosinophilic oesophagitis), also known as allergic... more...

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 199)
# Related Disease Score Top Affiliating Genes
1 hypereosinophilic syndrome 30.5 CCL11 IL13 IL5
2 peptic esophagitis 30.4 ATP12A ATP4A EPC2
3 esophageal candidiasis 30.2 ATP12A ATP4A
4 food allergy 30.2 FLG IL13 IL5 STAT6
5 gastrointestinal system disease 30.1 ATP12A ATP4A CCL11
6 rhinitis 30.0 CCL11 IL13 IL5
7 allergic rhinitis 30.0 CCL11 IL13 IL5
8 dyskinesia of esophagus 30.0 ATP12A ATP4A
9 esophageal disease 29.9 ATP12A ATP4A CCL26
10 ige responsiveness, atopic 29.8 IL13 IL5 STAT6
11 esophagitis 29.8 CCL11 CCL26 DSG1 IL13 IL5 TSLP
12 eosinophilic gastroenteritis 29.7 CCL11 IL5 TSLP
13 gastroenteritis 29.7 CCL11 IL5 TSLP
14 peanut allergy 29.6 FLG IL13
15 allergic asthma 29.1 CCL11 IL13 IL5 STAT6 TSLP
16 dermatitis 28.9 CCL11 DSG1 FLG IL13 IL5 TSLP
17 dermatitis, atopic 28.8 CCL11 FLG IL13 IL5 STAT6 TSLP
18 asthma 28.6 CCL11 CCL26 FLG IL13 IL5 STAT6
19 esophagitis, eosinophilic, 2 12.3
20 encephalopathy, ethylmalonic 11.9
21 eosinophilic enteropathy 11.6
22 autosomal dominant intellectual disability 30 11.2
23 extraskeletal ewing sarcoma 11.1
24 pulmonary fibrosis, idiopathic 11.0
25 cystic fibrosis 11.0
26 macs syndrome 11.0
27 coccidioidomycosis 11.0
28 hemophilia 11.0
29 gastroesophageal reflux 10.4
30 celiac disease 1 10.4
31 fungal esophagitis 10.3 ATP12A ATP4A
32 diclofenac allergy 10.3 ATP12A ATP4A
33 gastroduodenal crohn's disease 10.3 ATP12A ATP4A
34 neonatal candidiasis 10.3 ATP12A ATP4A
35 photoallergic dermatitis 10.3 ATP12A ATP4A
36 squamous papillomatosis 10.3 ATP12A ATP4A
37 toxic megacolon 10.3 ATP12A ATP4A
38 aspiration pneumonitis 10.3 ATP12A ATP4A
39 gastrointestinal neuroendocrine benign tumor 10.3 ATP12A ATP4A
40 gastric antral vascular ectasia 10.3 ATP12A ATP4A
41 granulomatous gastritis 10.3 ATP12A ATP4A
42 gastric neuroendocrine neoplasm 10.3 ATP12A ATP4A
43 acute laryngitis 10.3 ATP12A ATP4A
44 laryngitis 10.3 ATP12A ATP4A
45 duodenitis 10.3 ATP12A ATP4A
46 rumination disorder 10.3 ATP12A ATP4A
47 active peptic ulcer disease 10.3 ATP12A ATP4A
48 congenital disorder of deglycosylation 10.3 ATP12A ATP4A
49 bladder calculus 10.3 ATP12A ATP4A
50 ischemic neuropathy 10.3 ATP12A ATP4A

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:

57
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
dysphagia
vomiting
epigastric pain
difficulty feeding
food impaction
more

Clinical features from OMIM:

610247

Human phenotypes related to Esophagitis, Eosinophilic, 1:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
2 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
3 edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000969
4 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
5 spontaneous esophageal perforation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005203
6 esophageal stricture 59 32 hallmark (90%) Very frequent (99-80%) HP:0002043
7 esophageal obstruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0005240
8 failure to thrive 32 HP:0001508
9 vomiting 32 HP:0002013
10 esophagitis 32 HP:0100633
11 eosinophilia 32 HP:0001880
12 esophageal stenosis 59 Frequent (79-30%)
13 abnormality of esophagus physiology 59 Occasional (29-5%)
14 abnormality of esophagus morphology 59 Very frequent (99-80%)
15 epigastric pain 32 HP:0410019

UMLS symptoms related to Esophagitis, Eosinophilic, 1:


vomiting, epigastric pain

Drugs & Therapeutics for Esophagitis, Eosinophilic, 1

Search Clinical Trials , 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:

41
Testes, Bone, T Cells, Skin, Smooth Muscle, Lymph Node, Small Intestine

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

19
Esophagus

Publications for Esophagitis, Eosinophilic, 1

Articles related to Esophagitis, Eosinophilic, 1:

(show top 50) (show all 1324)
# Title Authors Year
1
Eosinophilic Esophagitis. ( 30466674 )
2019
2
Eosinophilic Esophagitis Is a Late Manifestation of the Allergic March. ( 29954692 )
2018
3
Clinical Translation of Tethered Confocal Microscopy Capsule for Unsedated Diagnosis of Eosinophilic Esophagitis. ( 29422678 )
2018
4
Blind esophageal brushing offers a safe and accurate method to monitor inflammation in children and young adults with eosinophilic esophagitis. ( 29905784 )
2018
5
Heterogeneity in Clinical, Endoscopic, and Histologic Outcome Measures and Placebo Response Rates in Clinical Trials of Eosinophilic Esophagitis: A Systematic Review. ( 29908360 )
2018
6
Airborne and food sensitization patterns in children and adults with eosinophilic esophagitis. ( 29381255 )
2018
7
Epithelial origin of eosinophilic esophagitis. ( 29980278 )
2018
8
Association of mast cells with clinical, endoscopic, and histologic findings in adults with eosinophilic esophagitis. ( 29935026 )
2018
9
Changing Concept of the Prevalence of Eosinophilic Esophagitis: Visible and Hidden Patients. ( 29969848 )
2018
10
Understanding fibrosis in eosinophilic esophagitis: Are we there yet? ( 29377264 )
2018
11
Eosinophilic Esophagitis Through the Flexible Endoscope and the Lens of a Photographer in the Amazon. ( 29427131 )
2018
12
Practice Differences in the Diagnosis and Management of Eosinophilic Esophagitis among Adult and Pediatric Gastroenterologists in Israel. ( 29394215 )
2018
13
Is eosinophilic esophagitis a member of the atopic march? ( 29413330 )
2018
14
Is eosinophilic esophagitis an equivalent of pollen allergic asthma? Analysis of biopsies and therapy guided by component resolved diagnosis. ( 29338961 )
2018
15
Eosinophilic esophagitis and symptoms possibly related to eosinophilic esophagitis in oral immunotherapy. ( 29397272 )
2018
16
Incidence and Prevalence of Pediatric Eosinophilic Esophagitis in Utah Based on a 5-Year Population-Based Study. ( 29935329 )
2018
17
Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis. ( 29904099 )
2018
18
Eosinophilic Esophagitis: Treatment With Different Doses of Omeprazole in Children Under 16 Years. ( 29939138 )
2018
19
Allergic components of eosinophilic esophagitis. ( 29980277 )
2018
20
Rising incidence and prevalence of adult eosinophilic esophagitis in midwestern Spain (2007-2016). ( 29435311 )
2018
21
Quail egg homogenate alleviates food allergy induced eosinophilic esophagitis like disease through modulating PAR-2 transduction pathway in peanut sensitized mice. ( 29348584 )
2018
22
Trend, clinical presentations and diagnosis of eosinophilic esophagitis in Saudi children. ( 29968888 )
2018
23
Combined and Alternating Topical Steroids and Food Elimination Diet for the Treatment of Eosinophilic Esophagitis. ( 29380175 )
2018
24
Integrin I+M activation and upregulation on esophageal eosinophils and periostin-mediated eosinophil survival in eosinophilic esophagitis. ( 29424023 )
2018
25
Safety and Efficacy of Budesonide Oral Suspension Maintenance Therapy in Patients With Eosinophilic Esophagitis. ( 29902649 )
2018
26
A case of Jackhammer esophagus caused by eosinophilic esophagitis in which per-oral endoscopic myotomy resulted in symptom improvement. ( 29790076 )
2018
27
The Rise and Rise of Eosinophilic Gut Diseases Including Eosinophilic Esophagitis Is Probably Not Explained by the Disappearance of Helicobacter pylori, so Who or What's to Blame? ( 29910462 )
2018
28
Eosinophilic Gastrointestinal Diseases (EGIDs) beyond Eosinophilic Esophagitis (EoE). ( 29940308 )
2018
29
Efficacy of Atopy Patch Testing in Directed Dietary Therapy of Eosinophilic Esophagitis: A Pilot Study. ( 29349695 )
2018
30
Eosinophilic esophagitis and esophageal atresia: coincidence or causality? ( 29333824 )
2018
31
Determinant factors of quality of life in adult patients with eosinophilic esophagitis. ( 29435312 )
2018
32
Obtaining adequate lamina propria for subepithelial fibrosis evaluation in pediatric eosinophilic esophagitis. ( 29309779 )
2018
33
Eosinophilic Esophageal Myositis (EoEM) Causes Jackhammer Esophagus, Rarely Posing a Problem in the Differential Diagnosis of Eosinophilic Esophagitis. ( 29895983 )
2018
34
Maintenance Treatment of Eosinophilic Esophagitis With Swallowed Topical Steroids Alters Disease Course Over A 5-Year Follow-Up Period in Adult Patients. ( 29902648 )
2018
35
Mucosal Impedance: a New Approach to Diagnosing Gastroesophageal Reflux Disease and Eosinophilic Esophagitis. ( 29886566 )
2018
36
Prolonged Time to Diagnosis of Eosinophilic Esophagitis Despite Increasing Knowledge of the Disease. ( 29374615 )
2018
37
Can Eosinophilic Esophagitis Cause Achalasia and Other Esophageal Motility Disorders? ( 30315308 )
2018
38
Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency. ( 29803798 )
2018
39
The Potential Role of Vedolizumab in Concomitant Eosinophilic Esophagitis and Crohn's Disease. ( 30343868 )
2018
40
Eosinophilic esophagitis: an underdiagnosed cause of dysphagia and food impaction to be recognized by otolaryngologists. ( 29876624 )
2018
41
Analysis of eosinophilic esophagitis in children with repaired congenital esophageal atresia. ( 30527929 )
2018
42
Optimal Biopsy Protocol to Evaluate Histological Effectiveness of Proton Pump Inhibitor Therapy in Patients with Eosinophilic Esophagitis. ( 30408792 )
2018
43
Immunology of the ancestral differences in eosinophilic esophagitis. ( 30414468 )
2018
44
Eosinophil progenitor levels correlate with tissue pathology in pediatric eosinophilic esophagitis. ( 30414854 )
2018
45
Esophageal Compliance Quantifies Epithelial Remodeling in Pediatric Patients with Eosinophilic Esophagitis. ( 30418408 )
2018
46
Germination of pollen grains in the esophagus of individuals with eosinophilic esophagitis. ( 30418690 )
2018
47
Histologic similarities in children with eosinophilic esophagitis and PPI-responsive esophageal eosinophilia. ( 30445056 )
2018
48
Eosinophilic Esophagitis Mimicking Candida Esophagitis. ( 30449793 )
2018
49
A Distinct Esophageal mRNA Pattern Identifies Eosinophilic Esophagitis Patients With Food Impactions. ( 30455683 )
2018
50
Variation in Endoscopic Activity Assessment and Endoscopy Score Validation in Adults with Eosinophilic Esophagitis. ( 30476587 )
2018

Variations for Esophagitis, Eosinophilic, 1

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 9.17 ATP4A CCL11 CCL26 IL13 IL5 POSTN

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.73 CCL11 CCL26 IL13 IL5
2 cellular response to tumor necrosis factor GO:0071356 9.58 CCL11 CCL26 POSTN
3 ATP hydrolysis coupled proton transport GO:0015991 9.48 ATP12A ATP4A
4 eosinophil chemotaxis GO:0048245 9.46 CCL11 CCL26
5 cellular sodium ion homeostasis GO:0006883 9.37 ATP12A ATP4A
6 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP12A ATP4A
7 cellular potassium ion homeostasis GO:0030007 9.26 ATP12A ATP4A
8 cytokine-mediated signaling pathway GO:0019221 9.26 CCL11 IL13 IL5 STAT6
9 sodium ion export across plasma membrane GO:0036376 9.16 ATP12A ATP4A
10 regulation of signaling receptor activity GO:0010469 9.02 CCL11 CCL26 IL13 IL5 TSLP

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

# Name GO ID Score Top Affiliating Genes
1 receptor ligand activity GO:0048018 9.32 CCL11 CCL26
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP12A ATP4A
3 CCR3 chemokine receptor binding GO:0031728 9.16 CCL11 CCL26
4 cytokine activity GO:0005125 9.02 CCL11 CCL26 IL13 IL5 TSLP
5 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP12A ATP4A

Sources for Esophagitis, Eosinophilic, 1

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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