CELIAC3
MCID: CLC048
MIFTS: 22

Celiac Disease 3 (CELIAC3)

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Celiac Disease 3

MalaCards integrated aliases for Celiac Disease 3:

Name: Celiac Disease 3 56 73 29 6
Celiac Disease, Susceptibility to, 3 56 13
Gluten-Sensitive Enteropathy 3 56 73
Celiac3 56 73
Gluten-Sensitive Enteropathy, Susceptibility to, 3 56
Celiac Disease, Susceptibility to, Type 3 39

Classifications:



External Ids:

OMIM 56 609755
OMIM Phenotypic Series 56 PS212750
MeSH 43 D002446
MedGen 41 C1857845

Summaries for Celiac Disease 3

OMIM : 56 Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750. (609755)

MalaCards based summary : Celiac Disease 3, also known as celiac disease, susceptibility to, 3, is related to celiac disease 1 and celiac disease 4. An important gene associated with Celiac Disease 3 is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4). Affiliated tissues include small intestine, thyroid and t cells.

UniProtKB/Swiss-Prot : 73 Celiac disease 3: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.

Related Diseases for Celiac Disease 3

Diseases in the Celiac Disease 1 family:

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

Diseases related to Celiac Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 celiac disease 1 10.2
2 celiac disease 4 10.2

Symptoms & Phenotypes for Celiac Disease 3

Clinical features from OMIM:

609755

Drugs & Therapeutics for Celiac Disease 3

Search Clinical Trials , NIH Clinical Center for Celiac Disease 3

Genetic Tests for Celiac Disease 3

Genetic tests related to Celiac Disease 3:

# Genetic test Affiliating Genes
1 Celiac Disease 3 29 CTLA4

Anatomical Context for Celiac Disease 3

MalaCards organs/tissues related to Celiac Disease 3:

40
Small Intestine, Thyroid, T Cells, Testes

Publications for Celiac Disease 3

Articles related to Celiac Disease 3:

(show all 28)
# Title Authors PMID Year
1
CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients. 56 6
15199380 2004
2
The CTLA4/CD28 gene region on chromosome 2q33 confers susceptibility to celiac disease in a way possibly distinct from that of type 1 diabetes and other chronic inflammatory disorders. 6 56
11098935 2000
3
CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. 6 56
10189842 1998
4
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. 6
15688186 2005
5
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. 6
15138458 2004
6
Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. 6
15301861 2004
7
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. 6
12724780 2003
8
Celiac sprue. 56
11796853 2002
9
The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus. 6
11158025 2001
10
Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. 6
10475192 1999
11
Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. 6
9398726 1997
12
Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. 6
9259273 1997
13
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. 6
8817351 1996
14
[Assessment of an algorithm to identify paediatric-onset celiac disease cases through administrative healthcare databases]. 61
28627151 2017
15
Evidence Against Routine Testing of Patients With Functional Gastrointestinal Disorders for Celiac Disease: A Population-based Study. 61
25987301 2015
16
Randomized feeding intervention in infants at high risk for celiac disease. 61
25271603 2014
17
Celiac disease. 61
25274968 2014
18
Concurrent autoimmune diseases in patients with autoimmune hepatitis. 61
20087196 2010
19
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. 61
17767555 2007
20
The downstream modulator of interferon-gamma, STAT1 is not genetically associated to the Dutch coeliac disease population. 61
16773129 2006
21
The anti-Saccharomyces cerevisiae antibody assay in a province-wide practice: accurate in identifying cases of Crohn's disease and predicting inflammatory disease. 61
16341311 2005
22
Capsule endoscopy; the cumulative experience from its use in 193 patients with suspected small bowel disease. 61
15816447 2005
23
Genetic analysis of the CD28/CTLA4/ICOS (CELIAC3) region in coeliac disease. 61
15496203 2004
24
NIH Consensus Development Conference on Celiac Disease. 61
17308551 2004
25
Candidate gene region 2q33 in European families with coeliac disease. 61
14989710 2004
26
[The catamnesis of children with celiac disease]. 61
11031460 2000
27
Are complicated forms of celiac disease cryptic T-cell lymphomas? 61
9808581 1998
28
Random fecal alpha-1-antitrypsin concentration in children with gastrointestinal disease. 61
6970702 1981

Variations for Celiac Disease 3

ClinVar genetic disease variations for Celiac Disease 3:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTLA4 NM_005214.5(CTLA4):c.*1148+236G>ASNV risk factor 16922 rs3087243 2:204738919-204738919 2:203874196-203874196
2 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)SNV Conflicting interpretations of pathogenicity 432079 rs1553657429 2:204735609-204735609 2:203870886-203870886
3 CTLA4 NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)SNV Benign 16921 rs231775 2:204732714-204732714 2:203867991-203867991

Expression for Celiac Disease 3

Search GEO for disease gene expression data for Celiac Disease 3.

Pathways for Celiac Disease 3

GO Terms for Celiac Disease 3

Sources for Celiac Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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