CELIAC3
MCID: CLC048
MIFTS: 21

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 57 72 29 6
Celiac Disease, Susceptibility to, 3 57 13
Gluten-Sensitive Enteropathy 3 57 72
Celiac3 57 72
Gluten-Sensitive Enteropathy, Susceptibility to, 3 57
Celiac Disease, Susceptibility to, Type 3 39

Classifications:



External Ids:

OMIM® 57 609755
OMIM Phenotypic Series 57 PS212750
MeSH 44 D002446
MedGen 41 C1857845

Summaries for Celiac Disease 3

OMIM® : 57 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) (Updated 20-May-2021)

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 and thyroid.

UniProtKB/Swiss-Prot : 72 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 9.9
2 celiac disease 4 9.9

Symptoms & Phenotypes for Celiac Disease 3

Clinical features from OMIM®:

609755 (Updated 20-May-2021)

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

Publications for Celiac Disease 3

Articles related to Celiac Disease 3:

(show all 29)
# Title Authors PMID Year
1
CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients. 6 57
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. 57 6
11098935 2000
3
CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. 57 6
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. 57
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
Associations of TP53 codon 72 polymorphism with complications and comorbidities in patients with type 1 diabetes. 61
33495869 2021
15
[Assessment of an algorithm to identify paediatric-onset celiac disease cases through administrative healthcare databases]. 61
28627151 2017
16
Evidence Against Routine Testing of Patients With Functional Gastrointestinal Disorders for Celiac Disease: A Population-based Study. 61
25987301 2015
17
Randomized feeding intervention in infants at high risk for celiac disease. 61
25271603 2014
18
Celiac disease. 61
25274968 2014
19
Concurrent autoimmune diseases in patients with autoimmune hepatitis. 61
20087196 2010
20
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. 61
17767555 2007
21
The downstream modulator of interferon-gamma, STAT1 is not genetically associated to the Dutch coeliac disease population. 61
16773129 2006
22
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
23
Capsule endoscopy; the cumulative experience from its use in 193 patients with suspected small bowel disease. 61
15816447 2005
24
Genetic analysis of the CD28/CTLA4/ICOS (CELIAC3) region in coeliac disease. 61
15496203 2004
25
NIH Consensus Development Conference on Celiac Disease. 61
17308551 2004
26
Candidate gene region 2q33 in European families with coeliac disease. 61
14989710 2004
27
[The catamnesis of children with celiac disease]. 61
11031460 2000
28
Are complicated forms of celiac disease cryptic T-cell lymphomas? 61
9808581 1998
29
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 Position
1 CTLA4 NM_005214.5(CTLA4):c.*1148+236G>A SNV risk factor 16922 rs3087243 GRCh37: 2:204738919-204738919
GRCh38: 2:203874196-203874196
2 CTLA4 NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) SNV risk factor 16921 rs231775 GRCh37: 2:204732714-204732714
GRCh38: 2:203867991-203867991
3 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) SNV Uncertain significance 432079 rs1553657429 GRCh37: 2:204735609-204735609
GRCh38: 2:203870886-203870886

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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