SPRUE
MCID: CLC005
MIFTS: 73

Celiac Disease (SPRUE) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Immune diseases categories
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Summaries for Celiac Disease

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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 based summary: Celiac Disease, also known as celiac sprue, is related to dermatitis herpetiformis and diabetes mellitus, and has symptoms including An important gene associated with Celiac Disease is HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1), and among its related pathways are Translocation of ZAP-70 to Immunological synapse and TCR signaling. The drug medium chain triglycerides and the compound gliadin 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 An autoimmune disease of gastrointestinal tract 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:65 Coeliac disease (/?si?li. more...

Descriptions from OMIM:46 609755, 612007, 612110, 607202, 212750 609753, 612005, 612008, 609754, 612006, 611598, 612011 more

GeneReviews summary for celiac

Aliases & Classifications for Celiac Disease

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Celiac Disease, Aliases & Descriptions:

Name: Celiac Disease 30 8 19 42 21 46 10 44 33 62
Celiac Sprue 8 19 42 21
Celiac Disease, Susceptibility to 9 20 22
Gluten-Sensitive Enteropathy 19 42 62
Coeliac Disease 8 19 42
Gluten-Induced Enteropathy 42 62
 
Idiopathic Steatorrhea 8 62
Gluten Intolerance 42 62
Gluten Enteropathy 21 62
Nontropical Sprue 19 42
Non-Tropical Sprue 62
Sprue 21


Classifications:



Related Diseases for Celiac Disease

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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 389)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis herpetiformis31.4HLA-DQB1, TGM2
2diabetes mellitus31.2CTLA4, HLA-DQA1, HLA-DQB1
3autoimmune hepatitis31.0HLA-DQB1, CTLA4
4type 1 diabetes mellitus30.9TAP2, HLA-DQA1, CTLA4, HLA-DQB1
5inflammatory bowel disease30.8MYO9B, TGM2, HLA-DQB1, CTLA4
6hepatitis b30.6CTLA4, HLA-DQB1
7multiple sclerosis30.3HLA-DQA1, CTLA4, HLA-DQB1, TAP2
8rheumatoid arthritis30.3TAP2, HLA-DQB1, CTLA4
9systemic lupus erythematosus30.3CTLA4, TAP2, HLA-DQA1, HLA-DQB1
10juvenile rheumatoid arthritis30.1HLA-DQA1, HLA-DQB1
11graves' disease29.9HLA-DQB1, CTLA4, TAP2, HLA-DQA1
12dermatitis10.7
13refractory celiac disease10.6
14thyroiditis10.6
15autoimmune thyroiditis10.5
16duodenitis10.5
17hepatitis10.5
18colitis10.5
19enteropathy-associated t-cell lymphoma10.5
20hemosiderosis10.4
21esophagitis10.4
22deficiency anemia10.4
23iron deficiency anemia10.4
24gastritis10.4
25pancreatitis10.4
26short stature10.4
27arthritis10.3
28eosinophilic esophagitis10.3
29lymphocytic gastritis10.3
30steatorrhea10.3
31hypoparathyroidism10.3
32cutaneous lupus erythematosus10.3
33restless legs syndrome10.3
34myokymia10.3
35irritable bowel syndrome10.3
36hemochromatosis10.3
37tropical sprue10.3
38diarrhea10.3
39endotheliitis10.3
40myxedema10.3
41sarcoma10.3
42intrinsic factor deficiency10.3
43bird fancier's lung10.2
44crohn's disease10.2
45ulcerative colitis10.2
46down syndrome10.2
47aphthous stomatitis10.2
48lymphocytic colitis10.2
49stomatitis10.2
50blindness10.2

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



Diseases related to celiac disease

Symptoms for Celiac Disease

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Symptoms by clinical synopsis from OMIM:

212750

Clinical features from OMIM:

609755, 612007, 612110, 607202, 212750, 609753, 612005, 612008, 609754, 612006 611598, 612011 more

HPO human phenotypes related to Celiac Disease:

(show all 44)
id Description Frequency HPO Source Accession
1 vitamin b12 deficiency rare (5%) HP:0100502
2 autosomal recessive inheritance HP:0000007
3 depression HP:0000716
4 anxiety HP:0000739
5 infertility HP:0000789
6 delayed puberty HP:0000823
7 osteoporosis HP:0000939
8 eczema HP:0000964
9 seizures HP:0001250
10 ataxia HP:0001251
11 polyneuropathy HP:0001271
12 heterogeneous HP:0001425
13 multifactorial inheritance HP:0001426
14 failure to thrive HP:0001508
15 alopecia HP:0001596
16 weight loss HP:0001824
17 iron deficiency anemia HP:0001891
18 thrombocytosis HP:0001894
19 macrocytic anemia HP:0001972
20 vomiting HP:0002013
21 diarrhea HP:0002014
22 abdominal pain HP:0002027
23 cerebral calcification HP:0002514
24 cerebral calcification HP:0002514
25 steatorrhea HP:0002570
26 celiac disease HP:0002608
27 lymphoma HP:0002665
28 iga deficiency HP:0002720
29 rickets HP:0002748
30 arthralgia HP:0002829
31 hypocalcemia HP:0002901
32 elevated hepatic transaminases HP:0002910
33 abdominal distention HP:0003270
34 prolonged partial thromboplastin time HP:0003645
35 abnormality of the abdominal wall HP:0004298
36 short stature HP:0004322
37 hypoplasia of dental enamel HP:0006297
38 prolonged prothrombin time HP:0008151
39 postnatal growth retardation HP:0008897
40 recurrent aphthous stomatitis HP:0011107
41 vitamin k deficiency HP:0011892
42 folate deficiency HP:0100507
43 vitamin d deficiency HP:0100512
44 type i diabetes mellitus HP:0100651

Drugs & Therapeutics for Celiac Disease

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Drug clinical trials:

Search ClinicalTrials for Celiac Disease

Search NIH Clinical Center for Celiac Disease

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Celiac Disease

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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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MalaCards organs/tissues related to Celiac Disease:

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

FMA organs/tissues related to Celiac Disease:

14
Small intestine to gliadin

Animal Models for Celiac Disease or affiliated genes

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MGI Mouse Phenotypes related to Celiac Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053879.1HLA-DQB1, HLA-DQA1, SH2B3, TGM2, MYO9B, IL18RAP
2MP:00053978.8HLA-DQB1, HLA-DQA1, SH2B3, TGM2, MYO9B, IL18RAP

Publications for Celiac Disease

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Articles related to Celiac Disease:

(show top 50)    (show all 1218)
idTitleAuthorsYear
1
Late diagnosis of celiac disease in an asymptomatic infant with growth failure. (24428915)
2014
2
Detection of autoantibodies against actin filaments in celiac disease. (23292801)
2013
3
Patterns of population differentiation and natural selection on the celiac disease background risk network. (23936230)
2013
4
Decreased prevalence of celiac disease among Brazilian elderly. (23569338)
2013
5
Celiac Disease-Specific TG2-Targeted Autoantibodies Inhibit Angiogenesis Ex Vivo and In Vivo in Mice by Interfering with Endothelial Cell Dynamics. (23824706)
2013
6
Follow-up of patients with celiac disease. (22944732)
2013
7
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
8
The versatile role of gliadin peptides in celiac disease. (23142684)
2013
9
Association Between Maternal Iron Supplementation During Pregnancy and Risk of Celiac Disease in Children. (24112997)
2013
10
Prevalence of celiac disease in omani children with type 1 diabetes mellitus: a cross sectional study. (24044070)
2013
11
Craniofacial features of children with celiac disease. (23799417)
2013
12
Drug absorption in celiac disease. (24296842)
2013
13
Five things to know about...celiac disease. (22872764)
2013
14
Intestinal T-cell responses in celiac disease - impact of celiac disease associated bacteria. (23326425)
2013
15
Celiac disease and common variable immunodeficiency: a familial inheritance? (24369335)
2013
16
Celiac disease is overrepresented in patients with constipation. (22434186)
2012
17
Influence of HLA-DQ2 and DQ8 on severity in celiac Disease. (21694611)
2012
18
Celiac disease in children with urolithiasis. (23692719)
2012
19
Prevalence of celiac disease: multicentric trial among pediatric population from five urban districts in Argentina. (23224306)
2012
20
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (21383967)
2011
21
Further Evidence for Celiac Disease-associated Chorea. (23439937)
2011
22
Screening for celiac disease among patients with Turner syndrome in BrasA-lia, DF, midwest region of Brazil. (21140084)
2010
23
Cytosolic PLA2 is required for CTL-mediated immunopathology of celiac disease via NKG2D and IL-15. (19237603)
2009
24
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
25
Increased CD4+CD25+Foxp3+ T cells in peripheral blood of celiac disease patients: correlation with dietary treatment. (19364517)
2009
26
Interferon-gamma released by gluten-stimulated celiac disease-specific intestinal T cells enhances the transepithelial flux of gluten peptides. (19218531)
2009
27
A new HLA-A*680106 allele identified in individuals with celiac disease from the Friuli area of northeast Italy. (18764807)
2008
28
Increased prevalence of celiac disease without gastrointestinal symptoms in adults MICA 5.1 homozygous subjects from the Campania area. (18282752)
2008
29
Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. (18509540)
2008
30
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. (17767555)
2007
31
Inhibition of TGF-beta signaling by IL-15: a new role for IL-15 in the loss of immune homeostasis in celiac disease. (17324400)
2007
32
Understanding the molecular basis of celiac disease: what genetic studies reveal. (17438672)
2006
33
Adulthood-onset celiac disease is associated with intercellular adhesion molecule-1 (ICAM-1) gene polymorphism. (16916657)
2006
34
Blue rubber bleb nevus syndrome co-existing with celiac disease. (17179576)
2006
35
Clinical picture of celiac disease in children]. (15859547)
2005
36
High prevalence of celiac disease in patients with lactose intolerance. (15775678)
2005
37
Osteoporosis patients should be screened for celiac disease. Low bone mineral density may be associated with this intestinal disease. (16124092)
2005
38
Constitutive activation of the signal transducer and activator of transcription pathway in celiac disease lesions. (12759242)
2003
39
The significance of elevated serologic markers of celiac disease in children with juvenile rheumatoid arthritis. (19861810)
2003
40
Immunoglobulin G autoantibodies against tissue-transglutaminase. A sensitive, cost-effective assay for the screening of celiac disease. (12482193)
2002
41
HLA-DQA1 and HLA-DQB1 genetic markers and clinical presentation in celiac disease. (12050583)
2002
42
Celiac disease and TNF promoter polymorphisms. (10773355)
2000
43
Celiac disease diagnosis in misdiagnosed children. (11044476)
2000
44
Usefulness of screening program for celiac disease in autoimmune thyroiditis. (10711459)
2000
45
Concordance of dermatitis herpetiformis and celiac disease in monozygous twins. (11121131)
2000
46
Improved method for serological testing in celiac disease--IgA anti-endomysium antibody test: a comparison between monkey oesophagus and human umbilical cord as substrate in indirect immunofluorescence test. (9890337)
1998
47
Anti-gliadin antibodies in patients with celiac disease cross-react with enterocytes and human calreticulin. (9400629)
1997
48
Elevated levels of serum antibodies to the lectin wheat germ agglutinin in celiac children lend support to the gluten-lectin theory of celiac disease. (7581728)
1995
49
IgA antigliadin antibodies, cellobiose/mannitol sugar test, and carotenemia in the diagnosis of and screening for celiac disease. (1900142)
1991
50
Floating-Harbor syndrome and celiac disease. (2063899)
1991

Variations for Celiac Disease

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Expression for genes affiliated with Celiac Disease

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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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Pathways related to Celiac Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.2HLA-DQA1, HLA-DQB1
2
Show member pathways
10.0HLA-DQB1, HLA-DQA1, CTLA4
3
Show member pathways
10.0CTLA4, HLA-DQA1, HLA-DQB1
410.0HLA-DQB1, HLA-DQA1, CTLA4
510.0CTLA4, HLA-DQA1, HLA-DQB1
6
Show member pathways
10.0HLA-DQB1, HLA-DQA1, CTLA4
7
Show member pathways
10.0IL18RAP, HLA-DQA1, HLA-DQB1
810.0TAP2, HLA-DQA1, HLA-DQB1
9
Show member pathways
9.8CTLA4, TAP2, HLA-DQA1, HLA-DQB1
10
Show member pathways
9.8CTLA4, TAP2, HLA-DQA1, HLA-DQB1

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
1gliadin4410.2TGM2, HLA-DQB1

GO Terms for genes affiliated with Celiac Disease

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:04261310.3HLA-DQA1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:07155610.2HLA-DQA1, HLA-DQB1
3clathrin-coated endocytic vesicle membraneGO:03066910.2HLA-DQA1, HLA-DQB1
4trans-Golgi network membraneGO:03258810.2HLA-DQA1, HLA-DQB1
5transport vesicle membraneGO:03065810.1HLA-DQB1, HLA-DQA1
6ER to Golgi transport vesicle membraneGO:0125079.9HLA-DQA1, HLA-DQB1

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

idNameGO IDScoreTop Affiliating Genes
1immune responseGO:0069559.8CTLA4, IL18RAP, HLA-DQA1, HLA-DQB1
2T cell costimulationGO:0312959.7CTLA4, HLA-DQA1, HLA-DQB1

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:03239510.2HLA-DQA1, HLA-DQB1

Products for genes affiliated with Celiac Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet