U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Books

Celiac disease(CD)

MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Synonyms: CD; Gluten-sensitive enteropathy
SNOMED CT: Celiac disease (396331005); CD - Celiac disease (396331005); Idiopathic steatorrhea (396331005); Celiac sprue (396331005); CS - Celiac sprue (396331005); Celiac syndrome (396331005); Wheat-sensitive enteropathy (396331005); Gluten enteropathy (396331005); Gluten-responsive sprue (396331005); GSE - Gluten-sensitive enteropathy (396331005); Gluten-sensitive enteropathy (396331005); Non-tropical sprue (396331005); Gluten-induced enteropathy syndrome (396331005); Nontropical sprue (396331005)
 
Related genes: MYO9B, HLA-DQB1, HLA-DQA1, CTLA4
 
HPO: HP:0002608
Monarch Initiative: MONDO:0005130
OMIM® Phenotypic series: PS212750
Orphanet: ORPHA555

Disease characteristics

Excerpted from the GeneReview: Celiac Disease
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms. [from GeneReviews]
Authors:
Annette K Taylor  |  Benjamin Lebwohl  |  Cara L Snyder, et. al.   view full author information

Additional descriptions

From OMIM
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005). For a discussion of genetic heterogeneity of celiac disease, see MAPPING.  http://www.omim.org/entry/212750
From MedlinePlus Genetics
Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body.

Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus.

Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention-deficit/hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form.

Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin.

Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy.

In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.  https://medlineplus.gov/genetics/condition/celiac-disease

Conditions with this feature

Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Celiac disease-epilepsy-cerebral calcification syndrome
MedGen UID:
341654
Concept ID:
C1856930
Disease or Syndrome
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.
Celiac disease, susceptibility to, 1
MedGen UID:
395227
Concept ID:
C1859310
Finding
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.
Macrocephaly/megalencephaly syndrome, autosomal recessive
MedGen UID:
812742
Concept ID:
C3806412
Disease or Syndrome
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
STAT3-related early-onset multisystem autoimmune disease
MedGen UID:
863232
Concept ID:
C4014795
Disease or Syndrome
Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune Disease See also ADMIO2 (617006), caused by mutation in the ZAP70 gene (176947) on chromosome 2q12, and ADMIO3 (620430), caused by mutation in the CBLB gene (604491) on chromosome 3q13.
Immunodeficiency 70
MedGen UID:
1740270
Concept ID:
C5436501
Disease or Syndrome
Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020).
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
MedGen UID:
1723138
Concept ID:
C5436546
Disease or Syndrome
Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 (147440). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by Klammt et al., 2018).
Coffin-Siris syndrome 12
MedGen UID:
1782096
Concept ID:
C5444111
Disease or Syndrome
Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Autoinflammatory syndrome with immunodeficiency
MedGen UID:
1784363
Concept ID:
C5543547
Disease or Syndrome
Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SLE; see 152700). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Hadjadj et al., 2020).
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).

Professional guidelines

PubMed

Lacy BE, Pimentel M, Brenner DM, Chey WD, Keefer LA, Long MD, Moshiree B
Am J Gastroenterol 2021 Jan 1;116(1):17-44. doi: 10.14309/ajg.0000000000001036. PMID: 33315591
Liontiris MI, Mazokopakis EE
Hell J Nucl Med 2017 Jan-Apr;20(1):51-56. Epub 2017 Mar 20 doi: 10.1967/s002449910507. PMID: 28315909
Konturek PC, Brzozowski T, Konturek SJ
J Physiol Pharmacol 2011 Dec;62(6):591-9. PMID: 22314561

Curated

NICE guideline on coeliac disease: recognition, assessment and management (2015)

Recent clinical studies

Etiology

Thompson JS, Mannon P
Am J Surg 2022 Jul;224(1 Pt B):332-338. Epub 2022 Feb 19 doi: 10.1016/j.amjsurg.2022.02.048. PMID: 35221098
Uche-Anya E, Lebwohl B
Curr Opin Gastroenterol 2021 Nov 1;37(6):619-624. doi: 10.1097/MOG.0000000000000785. PMID: 34456226
Lebwohl B, Rubio-Tapia A
Gastroenterology 2021 Jan;160(1):63-75. Epub 2020 Sep 18 doi: 10.1053/j.gastro.2020.06.098. PMID: 32950520
Bureš J
Vnitr Lek 2018 Summer;64(6):602-610. PMID: 30223658
Burden S, Langley-Evans S, Talley N
J Hum Nutr Diet 2014 Jun;27(3):203-4. doi: 10.1111/jhn.12233. PMID: 24826997

Diagnosis

Lebwohl B, Rubio-Tapia A
Gastroenterology 2021 Jan;160(1):63-75. Epub 2020 Sep 18 doi: 10.1053/j.gastro.2020.06.098. PMID: 32950520
Rubin JE, Crowe SE
Ann Intern Med 2020 Jan 7;172(1):ITC1-ITC16. doi: 10.7326/AITC202001070. PMID: 31905394
Hujoel IA, Reilly NR, Rubio-Tapia A
Gastroenterol Clin North Am 2019 Mar;48(1):19-37. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.001. PMID: 30711209
Lebwohl B, Sanders DS, Green PHR
Lancet 2018 Jan 6;391(10115):70-81. Epub 2017 Jul 28 doi: 10.1016/S0140-6736(17)31796-8. PMID: 28760445
Burden S, Langley-Evans S, Talley N
J Hum Nutr Diet 2014 Jun;27(3):203-4. doi: 10.1111/jhn.12233. PMID: 24826997

Therapy

Schuppan D, Mäki M, Lundin KEA, Isola J, Friesing-Sosnik T, Taavela J, Popp A, Koskenpato J, Langhorst J, Hovde Ø, Lähdeaho ML, Fusco S, Schumann M, Török HP, Kupcinskas J, Zopf Y, Lohse AW, Scheinin M, Kull K, Biedermann L, Byrnes V, Stallmach A, Jahnsen J, Zeitz J, Mohrbacher R, Greinwald R; CEC-3 Trial Group
N Engl J Med 2021 Jul 1;385(1):35-45. doi: 10.1056/NEJMoa2032441. PMID: 34192430
Lacy BE, Pimentel M, Brenner DM, Chey WD, Keefer LA, Long MD, Moshiree B
Am J Gastroenterol 2021 Jan 1;116(1):17-44. doi: 10.14309/ajg.0000000000001036. PMID: 33315591
Lebwohl B, Rubio-Tapia A
Gastroenterology 2021 Jan;160(1):63-75. Epub 2020 Sep 18 doi: 10.1053/j.gastro.2020.06.098. PMID: 32950520
Shamir R
Nestle Nutr Inst Workshop Ser 2016;86:67-76. Epub 2016 Jun 23 doi: 10.1159/000442724. PMID: 27336781
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article

Prognosis

Mearin ML, Agardh D, Antunes H, Al-Toma A, Auricchio R, Castillejo G, Catassi C, Ciacci C, Discepolo V, Dolinsek J, Donat E, Gillett P, Guandalini S, Husby Md DMSc S, Koletzko Md S, Koltai T, Korponay-Szabó IR, Kurppa K, Lionetti E, Mårild K, Martinez Ojinaga E, Meijer C, Monachesi C, Polanco I, Popp A, Roca M, Rodriguez-Herrera A, Shamir R, Stordal K, Troncone R, Valitutti F, Vreugdenhil A, Wessels M, Whiting P; ESPGHAN Special Interest Group on Celiac Disease
J Pediatr Gastroenterol Nutr 2022 Sep 1;75(3):369-386. Epub 2022 Jun 27 doi: 10.1097/MPG.0000000000003540. PMID: 35758521
Al Somali Z, Hamadani M, Kharfan-Dabaja M, Sureda A, El Fakih R, Aljurf M
Curr Hematol Malig Rep 2021 Apr;16(2):140-147. Epub 2021 May 19 doi: 10.1007/s11899-021-00634-4. PMID: 34009525
King JA, Jeong J, Underwood FE, Quan J, Panaccione N, Windsor JW, Coward S, deBruyn J, Ronksley PE, Shaheen AA, Quan H, Godley J, Veldhuyzen van Zanten S, Lebwohl B, Ng SC, Ludvigsson JF, Kaplan GG
Am J Gastroenterol 2020 Apr;115(4):507-525. doi: 10.14309/ajg.0000000000000523. PMID: 32022718
Lebwohl B, Green PHR
Gastroenterol Clin North Am 2019 Mar;48(1):xv-xvi. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.10.001. PMID: 30711215
Ludvigsson JF, Murray JA
Gastroenterol Clin North Am 2019 Mar;48(1):1-18. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.004. PMID: 30711202

Clinical prediction guides

Brown NK, Guandalini S, Semrad C, Kupfer SS
Am J Gastroenterol 2019 Oct;114(10):1587-1592. doi: 10.14309/ajg.0000000000000310. PMID: 31274511
Adike A, Corral J, Rybnicek D, Sussman D, Shah S, Quigley E
Methodist Debakey Cardiovasc J 2016 Oct-Dec;12(4):230-232. doi: 10.14797/mdcj-12-4-230. PMID: 28289500Free PMC Article
Rishi AR, Rubio-Tapia A, Murray JA
Expert Rev Gastroenterol Hepatol 2016;10(4):537-46. Epub 2015 Dec 16 doi: 10.1586/17474124.2016.1124759. PMID: 26603931
Elli L, Branchi F, Tomba C, Villalta D, Norsa L, Ferretti F, Roncoroni L, Bardella MT
World J Gastroenterol 2015 Jun 21;21(23):7110-9. doi: 10.3748/wjg.v21.i23.7110. PMID: 26109797Free PMC Article
Fasano A, Sapone A, Zevallos V, Schuppan D
Gastroenterology 2015 May;148(6):1195-204. Epub 2015 Jan 9 doi: 10.1053/j.gastro.2014.12.049. PMID: 25583468

Recent systematic reviews

Malandrini S, Trimboli P, Guzzaloni G, Virili C, Lucchini B
Nutrients 2022 Apr 18;14(8) doi: 10.3390/nu14081681. PMID: 35458242Free PMC Article
Duong QA, Pittet LF, Curtis N, Zimmermann P
J Infect 2022 Sep;85(3):213-300. Epub 2022 Jan 10 doi: 10.1016/j.jinf.2022.01.005. PMID: 35021114
King JA, Jeong J, Underwood FE, Quan J, Panaccione N, Windsor JW, Coward S, deBruyn J, Ronksley PE, Shaheen AA, Quan H, Godley J, Veldhuyzen van Zanten S, Lebwohl B, Ng SC, Ludvigsson JF, Kaplan GG
Am J Gastroenterol 2020 Apr;115(4):507-525. doi: 10.14309/ajg.0000000000000523. PMID: 32022718
Shigesi N, Kvaskoff M, Kirtley S, Feng Q, Fang H, Knight JC, Missmer SA, Rahmioglu N, Zondervan KT, Becker CM
Hum Reprod Update 2019 Jul 1;25(4):486-503. doi: 10.1093/humupd/dmz014. PMID: 31260048Free PMC Article
Singh P, Arora A, Strand TA, Leffler DA, Catassi C, Green PH, Kelly CP, Ahuja V, Makharia GK
Clin Gastroenterol Hepatol 2018 Jun;16(6):823-836.e2. Epub 2018 Mar 16 doi: 10.1016/j.cgh.2017.06.037. PMID: 29551598

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2015
      NICE guideline on coeliac disease: recognition, assessment and management (2015)

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...