SPRUE
MCID: CLC005
MIFTS: 73

Celiac Disease (SPRUE) malady

Gastrointestinal diseases category

Summaries for Celiac Disease

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. people with celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. when affected people eat food with gluten, or use a product with gluten, the immune system reacts by damaging tiny parts of the lining of the small intestine called villi. because villi normally allow the blood to absorb nutrients from food, affected individuals become malnourished. classic signs and symptoms are caused by inflammation of the gastrointestinal tract and may include diarrhea, weight loss, abdominal pain, swelling, and food intolerance. however, many people have other symptoms involving many body systems, and some people have no symptoms. while celiac disease tends to run in families, it does not follow a specific inheritance pattern. the risk to develop celiac disease is raised by having certain forms of the hla-dqa1 and hla-dqb1 genes. treatment is a lifelong, gluten-free diet. last updated: 2/6/2014

MalaCards: Celiac Disease, also known as celiac sprue, is related to diabetes mellitus and dermatitis herpetiformis, and has symptoms including constipation, diarrhea and nausea. An important gene associated with Celiac Disease is HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1), and among its related pathways are Immune System and Influenza A. The drug medium chain triglycerides and the compounds gliadin and hemocyanin have been mentioned in the context of this disorder. Affiliated tissues include small intestine to gliadin, small intestine and testes, and related mouse phenotypes are immune system and hematopoietic system.

Disease Ontology:8 A food allergy that is caused by a reaction located in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe triticeae. the disease is associated with hla-dq gene. it has symptom abdominal pain, has symptom constipation, has symptom diarrhea, has symptom nausea and vomiting, and has symptom loss of appetite.

Genetics Home Reference:21 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.

MedlinePlus:33 Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. if you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. gluten is a protein found in wheat, rye, and barley. it is found mainly in foods but may also be in other products like medicines, vitamins and supplements, lip balm, and even the glue on stamps and envelopes. celiac disease affects each person differently. symptoms may occur in the digestive system, or in other parts of the body. one person might have diarrhea and abdominal pain, while another person may be irritable or depressed. irritability is one of the most common symptoms in children. some people have no symptoms. celiac disease is genetic. blood tests can help your doctor diagnose the disease. your doctor may also need to examine a small piece of tissue from your small intestine. treatment is a diet free of gluten. nih: national institute of diabetes and digestive and kidney diseases

Wikipedia:63 Coeliac disease (/ˈsiːli.æk/; celiac disease in the United States and often celiac sprue) is an... more...

Description from OMIM:46 212750

GeneReviews summary for celiac

Aliases & Classifications for Celiac Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 27ICD9CM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal diseases


Aliases & Descriptions:

celiac disease 8 19 42 21 46 10 44 33 60
celiac sprue 8 19 42 21
celiac disease, susceptibility to 9 20 22
coeliac disease 8 19 42
gluten-sensitive enteropathy 19 42
gluten-induced enteropathy 42
steatorrhoea - idiopathic 8
idiopathic steatorrhea 8
gluten intolerance 42
gluten enteropathy 21
nontropical sprue 19
sprue 21


External Ids:

Disease Ontology8 DOID:10608
MeSH34 D002446
NCIt39 C26714
OMIM46 212750
ICD9CM27 579.0
ICD1025 K90.0

Related Diseases for Celiac Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Celiac Disease family:

Celiac Disease 7 Celiac Disease 8
Celiac Disease 3 Celiac Disease 9
Celiac Disease 10 Celiac Disease 11
Celiac Disease 6 Celiac Disease 2
Celiac Disease 12 Celiac Disease 13
Celiac Disease 5 Celiac Disease 4

Diseases related to Celiac Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 386)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus31.0CTLA4, TAP1, CD79A, HLA-DQA1, HLA-DQB1
2dermatitis herpetiformis30.9HLA-DQB1, CD79A, TGM2
3dermatitis30.9CTLA4, CD79A
4inflammatory bowel disease30.5CTLA4, MYO9B, TGM2, HLA-DQB1
5arthritis30.5CTLA4, TAP2
6hepatitis b30.3HLA-DQB1, CD79A, HLA-DQA1
7systemic lupus erythematosus30.3CTLA4, HLA-DQB1, TAP2, TAP1, HLA-DQA1, CD79A
8lupus erythematosus30.3CD79A
9multiple sclerosis30.2TAP2, TAP1, HLA-DQA1, HLA-DQB1, CTLA4
10rheumatoid arthritis30.2CTLA4, CD79A, TAP2, HLA-DQB1
11addison's disease30.2CTLA4
12psoriasis30.0TAP2, TAP1, CTLA4
13cystic fibrosis30.0HLA-DQA1, TAP1
14schizophrenia30.0HLA-DQB1, TAP1
15pemphigus29.9CD79A
16hypothyroidism29.9CTLA4
17graves' disease29.8TAP2, CTLA4, TAP1, HLA-DQA1, HLA-DQB1
18asthma29.8CTLA4, HLA-DQA1, CD79A, TAP1
19sjogren's syndrome29.8TAP2, CD79A, TAP1
20vitiligo29.8CTLA4
21purpura29.8CD79A
22arthropathy29.8CTLA4
23hepatitis c29.8TAP2
24glomerulonephritis29.8CD79A
25intestinal disease10.7
26thyroiditis10.6
27type 1 diabetes mellitus10.6
28duodenitis10.5
29duodenal disease10.5
30autoimmune thyroiditis10.5
31hepatitis10.5
32liver disease10.5
33esophageal disease10.4
34esophagitis10.4
35deficiency anemia10.4
36hemosiderosis10.4
37eosinophilic esophagitis10.4
38autoimmune hepatitis10.4
39pancreatitis10.4
40iron deficiency anemia10.4
41gastritis10.4
42hepatitis a10.3
43collagen disease10.3
44hypoparathyroidism10.3
45lymphocytic gastritis10.3
46steatorrhea10.3
47chromosomal disease10.3
48leukocyte disease10.3
49crohn's disease10.3
50hemochromatosis10.3

Graphical network of the top 20 diseases related to Celiac Disease:



Diseases related to celiac disease

Clinical Features for Celiac Disease

About this section
Sources:
46OMIM, 8Disease Ontology
See all sources

Clinical features from OMIM:

212750

Clinical synopsis from OMIM:

212750

Symptoms:

8
  • constipation
  • diarrhea
  • nausea
  • loss of appetite
  • abdominal pain

Drugs & Therapeutics for Celiac Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Celiac Disease

Drug clinical trials:

Search ClinicalTrials for Celiac Disease

Search NIH Clinical Center for Celiac Disease

Search CenterWatch for Celiac Disease

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Celiac Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Celiac Disease:

id Genetic test Affiliating Genes
1 Celiac Disease20 22 HLA-DQB1

Anatomical Context for Celiac Disease

About this section
Sources:
32MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Celiac Disease:

32
Small intestine, Testes, T cells, Kidney, Thyroid, Bone, Liver, Endothelial, Colon, Heart, B cells, Skin, Monocytes, Lymph node, Bone marrow, Pancreas, Lung, Tongue, Spinal cord, Brain, Whole blood

FMA organs/tissues related to Celiac Disease:

14
Small intestine to gliadin

Animal Models for Celiac Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Celiac Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538711.4HLA-DQB1, HLA-DQA1, SH2B3, MYO9B, CD79A, TAP1
2MP:000539711.1TGM2, CTLA4, HLA-DQB1, HLA-DQA1, SH2B3, MYO9B

Publications for Celiac Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Celiac Disease:

(show top 50)    (show all 1189)
idTitleAuthorsYear
1
High prevalence of celiac disease in Swedish children and adolescents with type 1 diabetes and the relation to the Swedish epidemic of celiac disease: a cohort study. (24164443)
2014
2
Nutritional consequences of celiac disease and the gluten-free diet. (24417260)
2014
3
Patient and parent satisfaction with a dietitian- and nurse- led celiac disease clinic for children at the Stollery Children's Hospital, Edmonton, Alberta. (23936876)
2013
4
Celiac disease and common variable immunodeficiency: a familial inheritance? (24369335)
2013
5
Celiac disease patients presenting with anemia have more severe disease than those presenting with diarrhea. (23756221)
2013
6
Oats in the diet of children with celiac disease: preliminary results of a double-blind, randomized, placebo-controlled multicenter Italian study. (24264227)
2013
7
The importance of disease prevalence in assessing the diagnostic value of a test: endoscopic markers in celiac disease. (23751460)
2013
8
Diagnosis and management of refractory celiac disease: a systematic review. (24227505)
2013
9
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (23936387)
2013
10
Celiac disease screening among healthy blood donors in Hungary. (24243570)
2013
11
Central Pontine Myelinolysis Presenting With Tremor in a Child With Celiac Disease. (23390116)
2013
12
Can an increase in celiac disease be attributed to an increase in the gluten content of wheat as a consequence of wheat breeding? (23311690)
2013
13
Enterocyte proliferation and signaling are constitutively altered in celiac disease. (24204586)
2013
14
The relationship between adiposity and stature in prepubertal children with celiac disease. (23729610)
2013
15
Celiac disease with mild enteropathy is not mild disease. (23022697)
2013
16
The high cost of celiac disease in an Israeli Health Maintenance Organization. (24229448)
2013
17
Major histocompatibility complex class I chain related gene-A microsatellite polymorphism shows secondary association with type 1 diabetes and celiac disease in North Indians. (22835336)
2012
18
Untreated celiac disease in a patient with dermatitis herpetiformis leading to a small bowel carcinoma. (22379467)
2012
19
Association of celiac disease with aplastic anemia. (21987180)
2012
20
Celiac disease prevalence in patients with iron deficiency anemia. (23161292)
2012
21
HLA and celiac disease susceptibility: new genetic factors bring open questions about the HLA influence and gene-dosage effects. (23119005)
2012
22
Celiac disease in children and adolescents with autoimmune hepatitis: a single-centre experience. (20571152)
2011
23
Re: small bowel intussusception in celiac disease: revisiting a classic association. (21164306)
2011
24
Celiac disease, primary biliary cirrhosis and helicobacter pylori infection: one link for three diseases. (21244776)
2010
25
Celiac disease associated with recurrent Guillain Barre syndrome. (21048269)
2010
26
Cystic fibrosis is a risk factor for celiac disease. (20300660)
2010
27
Enzymatic detoxification of gluten by germinating wheat proteases: implications for new treatment of celiac disease. (19353359)
2009
28
Serologic screening for celiac disease in children: a comparison between established assays and tests with deamidated gliadin-derived peptides plus conjugates for both IgA and IgG antibodies. (19845531)
2009
29
Newly identified genetic risk variants for celiac disease related to the immune response. (18311140)
2008
30
Association of familial Mediterranean fever and celiac disease in a 14-year-old girl with recurrent arthritis. (19026136)
2008
31
The immunohistochemistry profile of lymphocytic gastritis in celiac disease and helicobacter pylori infection: interplay between infection and inflammation. (18274643)
2007
32
Portal hypertension and nodular regenerative hyperplasia in a patient with celiac disease. (16688657)
2006
33
Interleukin-10 haplotypes in Celiac Disease in the Spanish population. (16579847)
2006
34
Association study of functional genetic variants of innate immunity related genes in celiac disease. (16078996)
2005
35
The IL-1 gene family and bone involvement in celiac disease. (16133447)
2005
36
Transglutaminase 2 in celiac disease: minireview article. (15290344)
2004
37
Partially responsive celiac disease resulting from small intestinal bacterial overgrowth and lactose intolerance. (15154971)
2004
38
Celiac disease as a manifestation of Munchausen by proxy. (14746426)
2004
39
Antitissue transglutaminase antibodies outside celiac disease. (11753161)
2002
40
Serum antigliadin antibody levels as a screening criterion before jejunal biopsy indication for celiac disease in a developing country. (11668350)
2001
41
Celiac disease and TNF promoter polymorphisms. (10773355)
2000
42
Human genome search in celiac disease using gliadin cDNA as probe. (10903861)
2000
43
The measurement of IgA and IgG transglutaminase antibodies in celiac disease: a comparison with current diagnostic methods. (10968391)
2000
44
Gallbladder emptying and somatostatin and cholecystokinin plasma levels in celiac disease. (10406250)
1999
45
Antibodies to human recombinant tissue transglutaminase measured by radioligand assay: evidence for high diagnostic sensitivity for celiac disease. (10437627)
1999
46
Mucosal intra-epithelial lymphocytes in enteropathy-associated T-cell lymphoma, ulcerative jejunitis, and refractory celiac disease constitute a neoplastic population. (10381521)
1999
47
Lysinuric protein intolerance masquerading as celiac disease: a case report. (9470018)
1998
48
Identification of tissue transglutaminase as the autoantigen of celiac disease. (9212111)
1997
49
An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland. (8896565)
1996
50
Reassessment of HLA association with celiac disease in special reference to the DP association. (2286538)
1990

Genetic Variations for Celiac Disease

About this section

Expression for genes affiliated with Celiac Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Celiac Disease

Search GEO for disease gene expression data for Celiac Disease.

Pathways for genes affiliated with Celiac Disease

About this section
Sources:
53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore
See all sources

Pathways related to Celiac Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.2TAP2, TAP1, CD79A, MYO9B, HLA-DQA1, HLA-DQB1
2
Hide members
10.9HLA-DQB1, HLA-DQA1, TAP1, TAP2
310.9TAP2, TAP1, HLA-DQA1, HLA-DQB1
4
Hide members
10.8HLA-DQA1, HLA-DQB1, CTLA4
5
Hide members
10.8HLA-DQA1, HLA-DQB1, CTLA4
6
Immune response NFAT in immune response
Hide members
10.8CD79A, HLA-DQA1, HLA-DQB1
710.8CD79A, TAP1, TAP2
810.6CTLA4

Compounds for genes affiliated with Celiac Disease

About this section
Sources:
44Novoseek
See all sources

Compounds related to Celiac Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gliadin4410.8TGM2, CD79A, HLA-DQB1
2hemocyanin4410.7CD79A, CTLA4
3gluten4410.6TGM2, CD79A
4reticulin4410.4TGM2, CD79A

GO Terms for genes affiliated with Celiac Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Celiac Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:04261310.7HLA-DQA1, HLA-DQB1
2TAP complexGO:04282510.4TAP2, TAP1

Biological processes related to Celiac Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosol to ER transportGO:04696710.8TAP2, TAP1
2intracellular transport of viral proteins in host cellGO:01906010.7TAP2, TAP1
3peptide transportGO:01583310.7TAP2, TAP1
4positive regulation of T cell mediated cytotoxicityGO:00191610.7TAP2, TAP1
5antigen processing and presentation of endogenous peptide antigen via MHC class IGO:01988510.6TAP1, TAP2
6T cell costimulationGO:03129510.5HLA-DQA1, HLA-DQB1, CTLA4

Molecular functions related to Celiac Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1peptide transporter activityGO:01519710.8TAP2, TAP1
2tapasin bindingGO:04698010.8TAP2, TAP1
3TAP2 bindingGO:04697910.7TAP1, TAP2
4TAP1 bindingGO:04697810.7TAP1, TAP2
5MHC class I protein bindingGO:04228810.7TAP2, TAP1
6oligopeptide-transporting ATPase activityGO:01542110.6TAP1, TAP2
7MHC class II receptor activityGO:03239510.4HLA-DQA1, HLA-DQB1

Products for genes affiliated with Celiac Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Celiac Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet