SPRUE
MCID: CLC005
MIFTS: 71

Celiac Disease (SPRUE) malady

Gastrointestinal category

Summaries for Celiac Disease

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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: Celiac Disease, also known as celiac sprue, is related to hepatitis c and arthritis, and has symptoms including constipation, abdominal pain and diarrhea. 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, skin and liver, 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: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

Wikipedia:64 Coeliac disease (/ˈsiːli.æk/; celiac disease in North America and often celiac sprue) is an... more...

Description from OMIM:47 212750

GeneReviews summary for celiac

Aliases & Classifications for Celiac Disease

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 27ICD9CM, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

celiac disease 8 19 43 21 47 10 45 34 61
celiac sprue 8 19 43 21
celiac disease, susceptibility to 9 20 22
coeliac disease 8 19 43
gluten-sensitive enteropathy 19 43
gluten-induced enteropathy 43
steatorrhoea - idiopathic 8
idiopathic steatorrhea 8
gluten intolerance 43
gluten enteropathy 21
nontropical sprue 19
sprue 21


External Ids:

Disease Ontology8 DOID:10608
MeSH35 D002446
NCIt40 C26714
OMIM47 212750
ICD9CM27 579.0
ICD1025 K90.0

Related Diseases for Celiac Disease

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 372)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis c30.8TAP2
2arthritis30.5CTLA4, TAP2
3systemic lupus erythematosus30.3TAP2, CD79A, CTLA4, TAP1, HLA-DQA1, HLA-DQB1
4asthma30.1CD79A, CTLA4, HLA-DQA1, TAP1
5cystic fibrosis30.1HLA-DQA1, TAP1
6pemphigus29.9CD79A
7graves' disease29.9TAP1, HLA-DQB1, TAP2, HLA-DQA1, CTLA4
8sjogren's syndrome29.9TAP2, TAP1, CD79A
9hepatitis b29.9CD79A, HLA-DQA1, HLA-DQB1
10vitiligo29.9CTLA4
11addison's disease29.9CTLA4
12arthropathy29.9CTLA4
13hepatitis d10.5
14thyroiditis10.5
15autoimmune thyroiditis10.5
16deficiency anemia10.4
17hemosiderosis10.4
18eosinophilic esophagitis10.4
19autoimmune hepatitis10.4
20hepatitis a10.4
21iron deficiency anemia10.4
22short stature10.4
23celiac disease 210.4
24hypoparathyroidism10.3
25lymphocytic gastritis10.3
26steatorrhea10.3
27n syndrome10.3
28hemochromatosis10.3
29irritable bowel syndrome10.3
30collagenous colitis10.3
31lymphocytic colitis10.3
32nutrition disease10.3
33tropical sprue10.3
34aphthous stomatitis10.3
35osteoporosis10.3
36stomatitis10.3
37turner syndrome10.3
38celiac disease 310.3
39restless legs syndrome10.3
40small intestine lymphoma10.3
41eosinophilic enteropathy10.3
42myokymia10.3
43myxedema10.2
44intrinsic factor deficiency10.2
45histiocytic sarcoma10.2
46crohn's disease10.2
47familial mediterranean fever10.2
48plummer's disease10.2
49primary biliary cirrhosis10.2
50osteomalacia10.2

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



Diseases related to celiac disease

Clinical Features for Celiac Disease

Sources:
47OMIM, 8Disease Ontology
See all sources

Clinical features from OMIM:

212750

Clinical synopsis from OMIM:

212750

Symptoms:

8 (see all 5)
  • constipation
  • abdominal pain
  • diarrhea
  • loss of appetite
  • nausea

Drugs & Therapeutics for Celiac Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Celiac Disease

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

Sources:
33MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Celiac Disease:

33
Skin, Liver, Tongue, Spinal cord, Brain, Kidney, Lymph node, Lung, Bone marrow, Whole blood, Heart, Small intestine, Colon, Pancreas, Thyroid, Monocytes, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid, Pancreatic islet

FMA organs/tissues related to Celiac Disease:

14
Small intestine to gliadin

Animal Models for Celiac Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Celiac Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538711.4CTLA4, HLA-DQB1, HLA-DQA1, SH2B3, MYO9B, CD79A
2MP:000539711.1CTLA4, HLA-DQB1, HLA-DQA1, SH2B3, MYO9B, CD79A

Publications for Celiac Disease

Sources:
51PubMed
See all sources

Articles related to Celiac Disease:

(show top 50)    (show all 1189)
idTitleAuthorsYear
1
Association Between Maternal Iron Supplementation During Pregnancy and Risk of Celiac Disease in Children. (24112997)
2013
2
Utility of tissue transglutaminase immunohistochemistry in pediatric duodenal biopsies: patterns of expression and role in celiac disease-a clinicopathologic review. (24195009)
2013
3
Decreased expression of Protease Inhibitor 9, a granzyme B inhibitor, in celiac disease: a potential mechanism in enterocyte destruction and villous atrophy. (24355225)
2013
4
Risk of Congenital Malformations Among Offspring of Mothers and Fathers With Celiac Disease: A Nationwide Cohort Study. (24161347)
2013
5
The effects of gluten-free diet on hypertransaminasemia in patients with celiac disease. (23930188)
2013
6
The association between celiac disease and eosinophilic esophagitis in children and adults. (23721294)
2013
7
A combined biochemical, biophysical and immunological approach towards the identification of celiac disease-specific wheat antigens. (23836418)
2013
8
Trace gluten contamination may play a role in mucosal and clinical recovery in a subgroup of diet-adherent non-responsive celiac disease patients. (23448408)
2013
9
Prevalence of celiac disease in healthy Iranian school children. (24188953)
2013
10
Primary hepatic anaplastic large cell ki-1 lymphoma and celiac disease: a casual association? (23451333)
2013
11
Celiac disease in subjects with type 1 diabetes mellitus: a prevalence study in western Sicily (Italy). (22707396)
2013
12
Defining thresholds of antibody levels improves diagnosis of celiac disease. (23103822)
2013
13
Modeling of celiac disease immune response and the therapeutic effect of potential drugs. (23826972)
2013
14
Type 1 diabetes mellitus and celiac disease: usefulness of gluten-free diet. (21833778)
2013
15
Celiac disease, enteropathy-associated T-cell lymphoma, and primary sclerosing cholangitis in one patient: a very rare association and review of the literature. (24381773)
2013
16
The million-dollar question: is "gluten-free" food safe for patients with celiac disease? (23221576)
2013
17
Pyoderma gangrenosum in refractory celiac disease: a case report. (24279608)
2013
18
Screening for celiac disease. (24084371)
2013
19
The diagnosis and treatment of celiac disease. (24355936)
2013
20
Celiac disease presenting with intestinal obstruction: report of two cases. (22965520)
2012
21
Celiac disease with pulmonary haemosiderosis and cardiomyopathy. (23169927)
2012
22
Persistent duodenal intraepithelial lymphocytosis despite a long-term strict gluten-free diet in celiac disease. (22825364)
2012
23
Antibodies to wheat high-molecular-weight glutenin subunits in patients with celiac disease. (22813868)
2012
24
Genes and populations in susceptibility to celiac disease. (23368646)
2012
25
Celiac disease in patient with Turner syndrome. (23864466)
2012
26
Refractory celiac disease: from bench to bedside. (22810901)
2012
27
The intestinal B-cell response in celiac disease. (23060888)
2012
28
Is hyperhomocysteinemia relevant in patients with celiac disease? (21734805)
2011
29
Increased CD4+CD25+Foxp3+ T cells in peripheral blood of celiac disease patients: correlation with dietary treatment. (19364517)
2009
30
Prevalence of autoimmune thyroiditis in children with celiac disease and effect of gluten withdrawal. (19324373)
2009
31
Celiac disease: from pathogenesis to novel therapies. (19766641)
2009
32
Performance of serology assays for diagnosing celiac disease in a clinical setting. (19776198)
2009
33
Erythema elevatum diutinum in association with celiac disease. (19570095)
2009
34
Prevalence of celiac disease in Turkish children with autoimmune thyroiditis. (18716873)
2009
35
An autosomal genome-wide screen for celiac disease in Bedouin families. (17943142)
2008
36
Refractory celiac disease and sprue-like intestinal disease. (18240339)
2008
37
Effect of a gluten-free diet on the risk of enteropathy-associated T-cell lymphoma in celiac disease. (17934841)
2008
38
Hyperglycemia in celiac disease: not always pretype 1 diabetes? (18768037)
2008
39
Brush border enzyme activities in relation to histological lesion in pediatric celiac disease. (18070009)
2008
40
Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4. (17215859)
2007
41
Serum mannan-binding lectin levels in patients with celiac disease: an analysis of clinical and autoimmune features. (17393323)
2007
42
Understanding the molecular basis of celiac disease: what genetic studies reveal. (17438672)
2006
43
Celiac disease occurring in a patient with hypoparathyroidism and autoimmune thyroid disease. (16553106)
2006
44
Celiac disease and pulmonary hemosiderosis in a patient with chronic granulomatous disease. (15334514)
2004
45
Celiac disease and dermatitis herpetiformis: the spectrum of gluten-sensitive enteropathy. (12890099)
2003
46
Thyroid-related autoantibodies and celiac disease: a role for a gluten-free diet? (12192201)
2002
47
Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter. (10951464)
2000
48
Exocrine pancreatic insufficiency in celiac disease. (9496962)
1998
49
Absolute linkage of celiac disease and dermatitis herpetiformis to HLA-DQ. (9243756)
1997
50
Celiac disease and hypoparathyroidism: cross-reaction of endomysial antibodies with parathyroid tissue. (8991626)
1996

Genetic Variations for Celiac Disease

Expression for genes affiliated with Celiac Disease

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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 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

Sources:
45Novoseek
See all sources

Compounds related to Celiac Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gliadin4510.8TGM2, CD79A, HLA-DQB1
2hemocyanin4510.7CD79A, CTLA4
3gluten4510.6TGM2, CD79A
4reticulin4510.4TGM2, CD79A

GO Terms for genes affiliated with Celiac Disease

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Celiac Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet