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MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Esophagitis (disease)
SNOMED CT: Esophagitis (16761005)
HPO: HP:0100633
Monarch Initiative: MONDO:0001409


Inflammation of the esophagus. [from HPO]

Conditions with this feature

Gastroesophageal reflux disease
MedGen UID:
Concept ID:
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Multiple endocrine neoplasia, type 1
MedGen UID:
Concept ID:
Neoplastic Process
Multiple endocrine neoplasia type 1 (MEN1) includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident either by overproduction of hormones by the tumor or by growth of the tumor itself. Parathyroid tumors are the most common MEN1-associated endocrinopathy; onset in 90% of individuals is between ages 20 and 25 years with hypercalcemia evident by age 50 years; hypercalcemia causes lethargy, depression, confusion, anorexia, constipation, nausea, vomiting, diuresis, dehydration, hypercalciuria, kidney stones, increased bone resorption/fracture risk, hypertension, and shortened QT interval. Pituitary tumors include prolactinoma (the most common), which manifests as oligomenorrhea/amenorrhea and galactorrhea in females and sexual dysfunction in males. Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract can manifest as Zollinger-Ellison syndrome (gastrinoma); hypoglycemia (insulinoma); hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, and skin rash (glucagonoma); and watery diarrhea, hypokalemia, and achlorhydria syndrome (vasoactive intestinal peptide [VIP]-secreting tumor). Carcinoid tumors are non-hormone-secreting and can manifest as a large mass after age 50 years. Adrenocortical tumors can be associated with primary hypercortisolism or hyperaldosteronism. Non-endocrine tumors include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas.
Diamond-Blackfan anemia 7
MedGen UID:
Concept ID:
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Esophagitis, eosinophilic, 2
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy type R18
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-18 (LGMD18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).
Esophagitis, eosinophilic, 1
MedGen UID:
Concept ID:
Disease or Syndrome
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). Genetic Heterogeneity of Eosinophilic Esophagitis Eosinophilic esophagitis-1 (EOE1) is associated with variation at chromosome 7q11.2. Another locus (EOE2; 613412) has been been associated with variation in the TSLP gene (607003) on chromosome 5q22.
Severe combined immunodeficiency due to CARMIL2 deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).
Inflammatory bowel disease 30
MedGen UID:
Concept ID:
Disease or Syndrome
Inflammatory bowel disease-30 (IBD30) is characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease (Mao et al., 2018). For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Visceral myopathy 2
MedGen UID:
Concept ID:
Disease or Syndrome
Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)).
Immunodeficiency 92
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative (summary by Beaussant-Cohen et al., 2019 and Levy et al., 2021).
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
MedGen UID:
Concept ID:
Disease or Syndrome
X-linked familial Behcet-like autoinflammatory syndrome-2 (AIFBL2) is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. Affected males often present with oral mucosal ulceration and skin inflammation. More variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Laboratory studies are consistent with immune dysregulation manifest as increased inflammatory markers and variable immune cell abnormalities, such as decreased NK cells and low memory B cells. One patient presented with recurrent infections and immunodeficiency in addition to autoinflammation. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease. Symptoms may respond to blockade of IL1 (see 147760) or TNFA (191160) (summary by Tyler et al., 2021 and Sun et al., 2022). For a discussion of genetic heterogeneity of AIFBL, see AIFBL1 (616744).

Professional guidelines


Yadlapati R, Gyawali CP, Pandolfino JE; CGIT GERD Consensus Conference Participants
Clin Gastroenterol Hepatol 2022 May;20(5):984-994.e1. Epub 2022 Feb 2 doi: 10.1016/j.cgh.2022.01.025. PMID: 35123084Free PMC Article
Wilkinson JM, Codipilly DC, Wilfahrt RP
Am Fam Physician 2021 Jan 15;103(2):97-106. PMID: 33448766
Gonsalves NP, Aceves SS
J Allergy Clin Immunol 2020 Jan;145(1):1-7. doi: 10.1016/j.jaci.2019.11.011. PMID: 31910983Free PMC Article

Recent clinical studies


O'Donnell JEM, Krishnan U
J Pediatr Gastroenterol Nutr 2022 Nov 1;75(5):556-563. Epub 2022 Jun 10 doi: 10.1097/MPG.0000000000003523. PMID: 35687591
Bor S
Best Pract Res Clin Gastroenterol 2019 Jun-Aug;40-41:101649. Epub 2019 Sep 17 doi: 10.1016/j.bpg.2019.101649. PMID: 31594653
Singendonk MM, Benninga MA, van Wijk MP
Neurogastroenterol Motil 2016 Oct;28(10):1452-9. doi: 10.1111/nmo.12922. PMID: 27682990
Patel NC, Caicedo RA
Curr Opin Pediatr 2015 Oct;27(5):642-8. doi: 10.1097/MOP.0000000000000266. PMID: 26208233
Nayyar AK, Royston C, Slater DN, Bardhan KD
Gastrointest Endosc 2001 Dec;54(6):730-5. doi: 10.1067/mge.2001.119872. PMID: 11726849


Leowattana W, Leowattana T
World J Gastroenterol 2022 Jul 28;28(28):3608-3619. doi: 10.3748/wjg.v28.i28.3608. PMID: 36161043Free PMC Article
Gratacós Gómez AR, Gómez Torrijos E
J Investig Allergol Clin Immunol 2022 Dec 15;32(6):438-450. Epub 2022 Aug 24 doi: 10.18176/jiaci.0853. PMID: 36000828
Lehman HK, Lam W
Immunol Allergy Clin North Am 2021 Nov;41(4):587-598. doi: 10.1016/j.iac.2021.07.011. PMID: 34602230
Chan SK, Mahmoudi M
Compr Ther 2009 Fall-Winter;35(3-4):160-6. PMID: 20043612
Brown-Whitehorn T, Liacouras CA
Curr Opin Pediatr 2007 Oct;19(5):575-80. doi: 10.1097/MOP.0b013e3282bf6ebf. PMID: 17885478


Lucendo AJ, López-Sánchez P
BioDrugs 2020 Aug;34(4):477-493. doi: 10.1007/s40259-020-00427-w. PMID: 32472465
Hirano I, Furuta GT
Gastroenterology 2020 Mar;158(4):840-851. Epub 2019 Dec 10 doi: 10.1053/j.gastro.2019.09.052. PMID: 31836530Free PMC Article
Greuter T, Hirano I, Dellon ES
J Allergy Clin Immunol 2020 Jan;145(1):38-45. Epub 2019 Nov 6 doi: 10.1016/j.jaci.2019.10.027. PMID: 31705907Free PMC Article
Akinlade B, Guttman-Yassky E, de Bruin-Weller M, Simpson EL, Blauvelt A, Cork MJ, Prens E, Asbell P, Akpek E, Corren J, Bachert C, Hirano I, Weyne J, Korotzer A, Chen Z, Hultsch T, Zhu X, Davis JD, Mannent L, Hamilton JD, Teper A, Staudinger H, Rizova E, Pirozzi G, Graham NMH, Shumel B, Ardeleanu M, Wollenberg A
Br J Dermatol 2019 Sep;181(3):459-473. Epub 2019 May 7 doi: 10.1111/bjd.17869. PMID: 30851191Free PMC Article
Leiman DA, Riff BP, Morgan S, Metz DC, Falk GW, French B, Umscheid CA, Lewis JD
Dis Esophagus 2017 May 1;30(5):1-9. doi: 10.1093/dote/dow020. PMID: 28375448Free PMC Article


Leslie D, Wise E, Sheka A, Abdelwahab H, Irey R, Benner A, Ikramuddin S
Ann Surg 2021 Oct 1;274(4):646-653. doi: 10.1097/SLA.0000000000005061. PMID: 34506320
Kumar S, Choi SS, Gupta SK
Pediatr Res 2020 Sep;88(3):345-347. Epub 2020 Jan 21 doi: 10.1038/s41390-020-0770-4. PMID: 31962343
Moawad FJ
Gastrointest Endosc Clin N Am 2018 Jan;28(1):15-25. Epub 2017 Aug 25 doi: 10.1016/j.giec.2017.07.001. PMID: 29129296
Dellon ES, Hirano I
Gastroenterology 2018 Jan;154(2):319-332.e3. Epub 2017 Aug 1 doi: 10.1053/j.gastro.2017.06.067. PMID: 28774845Free PMC Article
Franciosi JP, Liacouras CA
Immunol Allergy Clin North Am 2009 Feb;29(1):19-27, viii. doi: 10.1016/j.iac.2008.09.001. PMID: 19141338

Clinical prediction guides

Dellon ES, Khoury P, Muir AB, Liacouras CA, Safroneeva E, Atkins D, Collins MH, Gonsalves N, Falk GW, Spergel JM, Hirano I, Chehade M, Schoepfer AM, Menard-Katcher C, Katzka DA, Bonis PA, Bredenoord AJ, Geng B, Jensen ET, Pesek RD, Feuerstadt P, Gupta SK, Lucendo AJ, Genta RM, Hiremath G, McGowan EC, Moawad FJ, Peterson KA, Rothenberg ME, Straumann A, Furuta GT, Aceves SS
Gastroenterology 2022 Jul;163(1):59-76. Epub 2022 May 20 doi: 10.1053/j.gastro.2022.03.025. PMID: 35606197Free PMC Article
Pittman ME
Am J Surg Pathol 2022 Jan 1;46(1):e55-e63. doi: 10.1097/PAS.0000000000001667. PMID: 33481383
Karpathiou G, Papoudou-Bai A, Ferrand E, Dumollard JM, Peoc'h M
Pathol Res Pract 2021 Jul;223:153477. Epub 2021 May 11 doi: 10.1016/j.prp.2021.153477. PMID: 33991851
Dellon ES, Liacouras CA, Molina-Infante J, Furuta GT, Spergel JM, Zevit N, Spechler SJ, Attwood SE, Straumann A, Aceves SS, Alexander JA, Atkins D, Arva NC, Blanchard C, Bonis PA, Book WM, Capocelli KE, Chehade M, Cheng E, Collins MH, Davis CM, Dias JA, Di Lorenzo C, Dohil R, Dupont C, Falk GW, Ferreira CT, Fox A, Gonsalves NP, Gupta SK, Katzka DA, Kinoshita Y, Menard-Katcher C, Kodroff E, Metz DC, Miehlke S, Muir AB, Mukkada VA, Murch S, Nurko S, Ohtsuka Y, Orel R, Papadopoulou A, Peterson KA, Philpott H, Putnam PE, Richter JE, Rosen R, Rothenberg ME, Schoepfer A, Scott MM, Shah N, Sheikh J, Souza RF, Strobel MJ, Talley NJ, Vaezi MF, Vandenplas Y, Vieira MC, Walker MM, Wechsler JB, Wershil BK, Wen T, Yang GY, Hirano I, Bredenoord AJ
Gastroenterology 2018 Oct;155(4):1022-1033.e10. Epub 2018 Sep 6 doi: 10.1053/j.gastro.2018.07.009. PMID: 30009819Free PMC Article
Straumann A, Katzka DA
Gastroenterology 2018 Jan;154(2):346-359. Epub 2017 Jul 27 doi: 10.1053/j.gastro.2017.05.066. PMID: 28756235

Recent systematic reviews

Simadibrata DM, Syam AF, Lee YY
J Gastroenterol Hepatol 2022 Dec;37(12):2217-2228. Epub 2022 Oct 26 doi: 10.1111/jgh.16017. PMID: 36181401Free PMC Article
Gratacós Gómez AR, Gómez Torrijos E
J Investig Allergol Clin Immunol 2022 Dec 15;32(6):438-450. Epub 2022 Aug 24 doi: 10.18176/jiaci.0853. PMID: 36000828
Neagu N, Dianzani C, Avallone G, Dell'Aquila C, Morariu SH, Zalaudek I, Conforti C
J Eur Acad Dermatol Venereol 2022 Jun;36(6):820-835. Epub 2022 Feb 17 doi: 10.1111/jdv.17981. PMID: 35122335
Leiman DA, Riff BP, Morgan S, Metz DC, Falk GW, French B, Umscheid CA, Lewis JD
Dis Esophagus 2017 May 1;30(5):1-9. doi: 10.1093/dote/dow020. PMID: 28375448Free PMC Article
Lalla RV, Bowen J, Barasch A, Elting L, Epstein J, Keefe DM, McGuire DB, Migliorati C, Nicolatou-Galitis O, Peterson DE, Raber-Durlacher JE, Sonis ST, Elad S; Mucositis Guidelines Leadership Group of the Multinational Association of Supportive Care in Cancer and International Society of Oral Oncology (MASCC/ISOO)
Cancer 2014 May 15;120(10):1453-61. Epub 2014 Feb 25 doi: 10.1002/cncr.28592. PMID: 24615748Free PMC Article

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