MCID: CLC005
MIFTS: 79

Celiac Disease malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories

Summaries for Celiac Disease

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NIH Rare Diseases:43 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 thyroiditis, and has symptoms including vitamin b12 deficiency, autosomal recessive inheritance and depression. An important gene associated with Celiac Disease is HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1), and among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Cell adhesion molecules (CAMs). The drug medium chain triglycerides and the compounds gluten and reticulin 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:10 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.

MedlinePlus:34 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

Genetics Home Reference:23 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.

OMIM:47 Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the... (212750) more...

Wikipedia:65 Coeliac disease (/?si?li. more...

GeneReviews summary for celiac

Aliases & Classifications for Celiac Disease

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Celiac Disease, Aliases & Descriptions:

Name: Celiac Disease 47 32 10 21 43 23 12 45 34 62
Celiac Sprue 10 21 43 23
Celiac Disease, Susceptibility to 11 22 24
Gluten-Sensitive Enteropathy 21 43 62
Coeliac Disease 10 21 43
Gluten-Induced Enteropathy 43 62
 
Idiopathic Steatorrhea 10 62
Gluten Intolerance 43 62
Gluten Enteropathy 23 62
Nontropical Sprue 21 43
Non-Tropical Sprue 62
Sprue 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Gastrointestinal diseases


External Ids:

OMIM47 212750
Disease Ontology10 DOID:10608
NCIt40 C26714
MeSH35 D002446
ICD9CM29 579.0
ICD1027 K90.0

Related Diseases for Celiac Disease

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Diseases in the Celiac Disease family:

Celiac Disease 3 Celiac Disease 4

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

(show top 50)    (show all 371)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis herpetiformis31.0CD79A, HLA-DQB1, TGM2
2thyroiditis31.0CTLA4, CD79A
3inflammatory bowel disease30.6CD79A, MYO9B
4hepatitis b30.3HLA-DQA1, HLA-DQB1, CD79A
5systemic lupus erythematosus30.2TAP2, TAP1, HLA-DQA1, HLA-DQB1, CD79A, CTLA4
6rheumatoid arthritis30.2HLA-DQB1, TAP2, CD79A, CTLA4
7glucose intolerance29.9TGM2, CD79A
8sjogren's syndrome29.9CD79A, TAP2, TAP1
9juvenile rheumatoid arthritis29.9HLA-DQB1, HLA-DQA1
10asthma29.8CTLA4, CD79A, TAP1, HLA-DQA1
11graves' disease29.8TAP2, TAP1, HLA-DQA1, HLA-DQB1, CTLA4
12dermatitis10.7
13refractory celiac disease10.6
14duodenitis10.6
15autoimmune thyroiditis10.6
16hepatitis10.5
17colitis10.5
18enteropathy-associated t-cell lymphoma10.5
19esophagitis10.5
20hemosiderosis10.4
21deficiency anemia10.4
22autoimmune hepatitis10.4
23iron deficiency anemia10.4
24pancreatitis10.4
25gastritis10.4
26arthritis10.3
27irritable bowel syndrome10.3
28lymphocytic gastritis10.3
29steatorrhea10.3
30hypoparathyroidism10.3
31diarrhea10.3
32hemochromatosis10.3
33ulcerative colitis10.3
34tropical sprue10.3
35endotheliitis10.3
36cutaneous lupus erythematosus10.3
37restless legs syndrome10.3
38intrinsic factor deficiency10.3
39myxedema10.3
40sarcoma10.3
41celiac disease 310.2
42celiac disease 410.2
43crohn's disease10.2
44lymphocytic colitis10.2
45osteomalacia10.2
46aphthous stomatitis10.2
47down syndrome10.2
48stomatitis10.2
49blindness10.2
50bird fancier's lung10.2

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:

212750

Symptoms:

 10
  • abdominal pain
  • constipation
  • diarrhea
  • nausea
  • loss of appetite

HPO human phenotypes related to Celiac Disease:

(show all 43)
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 steatorrhea HP:0002570
25 celiac disease HP:0002608
26 lymphoma HP:0002665
27 iga deficiency HP:0002720
28 rickets HP:0002748
29 arthralgia HP:0002829
30 hypocalcemia HP:0002901
31 elevated hepatic transaminases HP:0002910
32 abdominal distention HP:0003270
33 prolonged partial thromboplastin time HP:0003645
34 abnormality of the abdominal wall HP:0004298
35 short stature HP:0004322
36 hypoplasia of dental enamel HP:0006297
37 prolonged prothrombin time HP:0008151
38 postnatal growth retardation HP:0008897
39 recurrent aphthous stomatitis HP:0011107
40 vitamin k deficiency HP:0011892
41 folate deficiency HP:0100507
42 vitamin d deficiency HP:0100512
43 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-RT41:

Genetic Tests for Celiac Disease

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Genetic tests related to Celiac Disease:

id Genetic test Affiliating Genes
1 Celiac Disease22 24 HLA-DQB1

Anatomical Context for Celiac Disease

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MalaCards organs/tissues related to Celiac Disease:

33
Small intestine, Testes, T cells, Thyroid, Kidney, Bone, Liver, Skin, Endothelial, Colon, B cells, Heart, Monocytes, Bone marrow, Lymph node, Lung, Whole blood, Spleen, Brain, Pancreas, Tongue, Neutrophil

FMA organs/tissues related to Celiac Disease:

16
Small intestine to gliadin

Animal Models for Celiac Disease or affiliated genes

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MGI Mouse Phenotypes related to Celiac Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.7HLA-DQA1, SH2B3, TGM2, MYO9B, IL18RAP, TAP1
2MP:00053978.4CTLA4, HLA-DQB1, HLA-DQA1, SH2B3, TGM2, MYO9B

Publications for Celiac Disease

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Articles related to Celiac Disease:

(show top 50)    (show all 1256)
idTitleAuthorsYear
1
Celiac disease: diagnosis and treatment. (25872537)
2015
2
Presence of tissue transglutaminase IgA antibody as a celiac disease marker in a sample of patients with irritable bowel syndrome. (25856876)
2015
3
Late diagnosis of celiac disease in an asymptomatic infant with growth failure. (24428915)
2014
4
Detection of autoantibodies against actin filaments in celiac disease. (23292801)
2013
5
Patterns of population differentiation and natural selection on the celiac disease background risk network. (23936230)
2013
6
Decreased prevalence of celiac disease among Brazilian elderly. (23569338)
2013
7
Celiac Disease-Specific TG2-Targeted Autoantibodies Inhibit Angiogenesis Ex Vivo and In Vivo in Mice by Interfering with Endothelial Cell Dynamics. (23824706)
2013
8
Follow-up of patients with celiac disease. (22944732)
2013
9
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
10
The versatile role of gliadin peptides in celiac disease. (23142684)
2013
11
Association Between Maternal Iron Supplementation During Pregnancy and Risk of Celiac Disease in Children. (24112997)
2013
12
Prevalence of celiac disease in omani children with type 1 diabetes mellitus: a cross sectional study. (24044070)
2013
13
Craniofacial features of children with celiac disease. (23799417)
2013
14
Drug absorption in celiac disease. (24296842)
2013
15
Five things to know about...celiac disease. (22872764)
2013
16
Intestinal T-cell responses in celiac disease - impact of celiac disease associated bacteria. (23326425)
2013
17
Celiac disease and common variable immunodeficiency: a familial inheritance? (24369335)
2013
18
Celiac disease is overrepresented in patients with constipation. (22434186)
2012
19
Influence of HLA-DQ2 and DQ8 on severity in celiac Disease. (21694611)
2012
20
Celiac disease in children with urolithiasis. (23692719)
2012
21
Prevalence of celiac disease: multicentric trial among pediatric population from five urban districts in Argentina. (23224306)
2012
22
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (21383967)
2011
23
Further Evidence for Celiac Disease-associated Chorea. (23439937)
2011
24
Cytosolic PLA2 is required for CTL-mediated immunopathology of celiac disease via NKG2D and IL-15. (19237603)
2009
25
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
26
Increased CD4+CD25+Foxp3+ T cells in peripheral blood of celiac disease patients: correlation with dietary treatment. (19364517)
2009
27
Interferon-gamma released by gluten-stimulated celiac disease-specific intestinal T cells enhances the transepithelial flux of gluten peptides. (19218531)
2009
28
A new HLA-A*680106 allele identified in individuals with celiac disease from the Friuli area of northeast Italy. (18764807)
2008
29
Increased prevalence of celiac disease without gastrointestinal symptoms in adults MICA 5.1 homozygous subjects from the Campania area. (18282752)
2008
30
Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. (18509540)
2008
31
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. (17767555)
2007
32
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
33
Understanding the molecular basis of celiac disease: what genetic studies reveal. (17438672)
2006
34
Adulthood-onset celiac disease is associated with intercellular adhesion molecule-1 (ICAM-1) gene polymorphism. (16916657)
2006
35
Blue rubber bleb nevus syndrome co-existing with celiac disease. (17179576)
2006
36
Clinical picture of celiac disease in children]. (15859547)
2005
37
High prevalence of celiac disease in patients with lactose intolerance. (15775678)
2005
38
Osteoporosis patients should be screened for celiac disease. Low bone mineral density may be associated with this intestinal disease. (16124092)
2005
39
Constitutive activation of the signal transducer and activator of transcription pathway in celiac disease lesions. (12759242)
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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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:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0HLA-DQB1, HLA-DQA1, CTLA4
210.0CTLA4, HLA-DQB1, HLA-DQA1
310.0CTLA4, HLA-DQA1, HLA-DQB1
4
Show member pathways
10.0HLA-DQB1, HLA-DQA1, CTLA4
5
Show member pathways
10.0IL18RAP, HLA-DQB1, HLA-DQA1
6
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
10.0HLA-DQA1, HLA-DQB1, CD79A
7
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
9.9CTLA4, SH2B3, CD79A
89.8CD79A, TAP1, TAP2
99.8TAP2, CD79A, TAP1
109.8TAP2, TAP1, HLA-DQA1, HLA-DQB1
11
Show member pathways
9.8TAP2, TAP1, HLA-DQA1, HLA-DQB1
12
Show member pathways
9.6HLA-DQB1, HLA-DQA1, TAP1, TAP2, CTLA4
13
Show member pathways
9.4HLA-DQA1, TAP1, TAP2, CD79A, CTLA4, HLA-DQB1

Compounds for genes affiliated with Celiac Disease

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Sources:
45Novoseek, 51PharmGKB, 13DrugBank
See all sources

Compounds related to Celiac Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gluten4510.3CD79A, TGM2
2reticulin4510.2CD79A, TGM2
3gliadin4510.2CD79A, TGM2, HLA-DQB1
4hemocyanin4510.1CD79A, CTLA4
5con a4510.1CTLA4, CD79A
6lapatinib45 51 1312.0TAP1, HLA-DQA1
7glutamine459.8TAP2, TAP1, TGM2, HLA-DQB1
8enterotoxin459.8CTLA4, CD79A
9glutamate459.8HLA-DQB1, TGM2, TAP1, CD79A, CTLA4
10alanine459.6TGM2, TAP1, TAP2, CD79A, CTLA4

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:004261310.3HLA-DQA1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.2HLA-DQA1, HLA-DQB1
3TAP complexGO:004282510.2TAP2, TAP1
4clathrin-coated endocytic vesicle membraneGO:003066910.2HLA-DQB1, HLA-DQA1
5trans-Golgi network membraneGO:003258810.2HLA-DQA1, HLA-DQB1
6transport vesicle membraneGO:003065810.1HLA-DQA1, HLA-DQB1
7ER to Golgi transport vesicle membraneGO:00125079.9HLA-DQA1, HLA-DQB1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cytosol to ER transportGO:004696710.3TAP2, TAP1
2oligopeptide transmembrane transportGO:003567210.2TAP2, TAP1
3intracellular transport of viral protein in host cellGO:001906010.2TAP2, TAP1
4antigen processing and presentation of endogenous peptide antigen via MHC class IGO:001988510.2TAP2, TAP1
5B cell receptor signaling pathwayGO:005085310.1CTLA4, CD79A
6T cell costimulationGO:003129510.1HLA-DQB1, HLA-DQA1, CTLA4
7peptide transportGO:001583310.1TAP2, TAP1
8positive regulation of T cell mediated cytotoxicityGO:00019169.8TAP2, TAP1
9immune responseGO:00069559.7HLA-DQB1, HLA-DQA1, IL18RAP, CTLA4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1peptide transporter activityGO:001519710.3TAP2, TAP1
2tapasin bindingGO:004698010.3TAP1, TAP2
3MHC class Ib protein bindingGO:002302910.2TAP1, TAP2
4oligopeptide-transporting ATPase activityGO:001542110.2TAP2, TAP1
5MHC class II receptor activityGO:003239510.2HLA-DQA1, HLA-DQB1
6TAP2 bindingGO:004697910.2TAP1, TAP2
7TAP1 bindingGO:004697810.1TAP1, TAP2
8ADP bindingGO:004353110.1TAP1, MYO9B
9MHC class I protein bindingGO:004228810.0TAP1, TAP2
10peptide antigen bindingGO:00426059.8TAP2, TAP1

Products for genes affiliated with Celiac Disease

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Sources for Celiac Disease

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet