SPRUE
MCID: CLC005
MIFTS: 73

Celiac Disease (SPRUE) malady

Gastrointestinal diseases category

Summaries for Celiac Disease

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

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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

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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

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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

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Celiac Disease:

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

Anatomical Context for Celiac Disease

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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

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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

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Sources:
50PubMed
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Articles related to Celiac Disease:

(show top 50)    (show all 1189)
idTitleAuthorsYear
1
Late diagnosis of celiac disease in an asymptomatic infant with growth failure. (24428915)
2014
2
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
3
Changed gluten immunity in celiac disease by Necator americanus provides new insights into autoimmunity. (23291460)
2013
4
Orbital myositis associated with celiac disease. (23842704)
2013
5
Hypocalcemic seizure in an adolescent with Down syndrome: a manifestation of unrecognized celiac disease. (24382537)
2013
6
Difficult diagnosis of celiac disease: diagnostic accuracy and utility of chromo-zoom endoscopy. (23200727)
2013
7
You're the flight surgeon: celiac disease. (23855079)
2013
8
Children with celiac disease and high tTGA are genetically and phenotypically different. (24222955)
2013
9
Interest in medical therapy for celiac disease. (24003336)
2013
10
Interprovider variation of celiac disease testing in childhood chronic abdominal pain. (24124697)
2013
11
A multiplex assay to rapidly exclude HLA-DQ2.5 and HLA-DQ8 expression in patients at risk for celiac disease. (23314539)
2013
12
I've heard a gluten-free diet can mitigate symptoms of celiac disease. What's the best approach to implementing this diet? (23029696)
2012
13
Quadriplegia due to celiac crisis with hypokalemia as initial presentation of celiac disease: a case report. (21525142)
2012
14
Origin of celiac disease: how old are predisposing haplotypes? (23066327)
2012
15
Diagnosing celiac disease by video capsule endoscopy (VCE) when esophagogastroduodenoscopy (EGD) and biopsy is unable to provide a diagnosis: a case series. (22812595)
2012
16
Tissue transglutaminase levels above 100 U/mL and celiac disease: a prospective study. (22969205)
2012
17
New insights on the role of T cells in the pathogenesis of celiac disease. (22824744)
2012
18
Idiopathic atrophic glossitis as the only clinical sign for celiac disease diagnosis: a case report. (22762365)
2012
19
Biased T cell receptor usage directed against human leukocyte antigen DQ8-restricted gliadin peptides is associated with celiac disease. (23063329)
2012
20
Celiac disease in type 1 diabetes mellitus. (22449104)
2012
21
Gluten-free diet and autoimmune thyroiditis in patients with celiac disease. A prospective controlled study. (22126672)
2012
22
Factors associated with dietary adherence in celiac disease: a nationwide study. (23095439)
2012
23
Refractory celiac disease. (23083992)
2012
24
Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. (21815256)
2011
25
Altered expression of the lymphocyte activation antigen CD30 in active celiac disease. (20166880)
2010
26
Differential mucosal IL-17 expression in two gliadin-induced disorders: gluten sensitivity and the autoimmune enteropathy celiac disease. (19940509)
2010
27
Celiac disease in siblings with Pearson syndrome. (20228667)
2010
28
IgG-F-actin antibodies in celiac disease and dermatitis herpetiformis. (21462831)
2010
29
Increased expression of mucosal addressin cell adhesion molecule 1 in the duodenum of patients with active celiac disease is associated with depletion of integrin alpha4beta7-positive T cells in blood. (19157500)
2009
30
Deep venous thrombosis related to protein S deficiency revealing celiac disease. (19098891)
2009
31
Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children. (18923841)
2009
32
Anti-microbial antibodies in celiac disease: trick or treat? (19701969)
2009
33
Secretion of celiac disease autoantibodies after in vitro gliadin challenge is dependent on small-bowel mucosal transglutaminase 2-specific IgA deposits. (18312620)
2008
34
Is there an association between familial Mediterranean fever and celiac disease? (18351429)
2008
35
Celiac disease--a frequent cause of "idiopathic osteoporosis" in premenopausal and early postmenopausal women]. (18357865)
2007
36
Celiac disease associated with nodular regenerative hyperplasia, pulmonary abnormalities, and IgA anticardiolipin antibodies. (16394874)
2006
37
Osteoporosis patients should be screened for celiac disease. Low bone mineral density may be associated with this intestinal disease. (16124092)
2005
38
Narrative review: celiac disease: understanding a complex autoimmune disorder. (15710962)
2005
39
Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus. (16278149)
2005
40
Can tissue transglutaminase antibody titers replace small-bowel biopsy to diagnose celiac disease in select pediatric populations? (15867045)
2005
41
Adaptive and innate immune responses in celiac disease. (15876458)
2005
42
Hemochromatosis gene mutations and iron metabolism in celiac disease. (15531451)
2004
43
Hematologic manifestation of childhood celiac disease. (15153713)
2004
44
CTLA-4 +49 A/G dimorphism in Italian patients with celiac disease. (12559633)
2003
45
No association of CTLA4 gene with celiac disease in the Basque population. (12883299)
2003
46
Serum soluble interleukin-2 receptor, interleukin-6, and tumor necrosis factor-alpha levels in children with celiac disease: response to treatment. (12394376)
2002
47
Gluten induces an intestinal cytokine response strongly dominated by interferon gamma in patients with celiac disease. (9721152)
1998
48
Is celiac disease associated with Alzheimer's disease? (9088382)
1997
49
Gut permeability to human alpha-lactalbumin, beta-lactoglobulin, mannitol, and lactulose in celiac disease. (8642494)
1996
50
Serum food antibodies analyzed by enzyme-linked immunosorbent assay (ELISA) and diffusion-in-gel (DIG)-ELISA methods in children with and without celiac disease. (8126619)
1994

Genetic Variations for Celiac Disease

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Expression for genes affiliated with Celiac Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore
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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

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Sources:
44Novoseek
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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

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Celiac Disease

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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