CELIAC3
MCID: CLC048
MIFTS: 21

Celiac Disease 3 (CELIAC3)

Categories: Blood diseases, 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 58 76 30 6
Celiac Disease, Susceptibility to, 3 58 13
Gluten-Sensitive Enteropathy 3 58 76
Celiac3 58 76
Gluten-Sensitive Enteropathy, Susceptibility to, 3 58
Celiac Disease, Susceptibility to, Type 3 41

Classifications:



External Ids:

OMIM 58 609755
MeSH 45 D002446
MedGen 43 C1857845

Summaries for Celiac Disease 3

OMIM : 58 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 : 76 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 10.1
2 celiac disease 4 10.1

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 30 CTLA4

Anatomical Context for Celiac Disease 3

MalaCards organs/tissues related to Celiac Disease 3:

42
Small Intestine, Thyroid, T Cells

Publications for Celiac Disease 3

Articles related to Celiac Disease 3:

(show all 14)
# Title Authors Year
1
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. ( 17767555 )
2007
2
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. ( 15688186 )
2005
3
Genetic analysis of the CD28/CTLA4/ICOS (CELIAC3) region in coeliac disease. ( 15496203 )
2004
4
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. ( 15138458 )
2004
5
CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients. ( 15199380 )
2004
6
Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. ( 15301861 )
2004
7
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. ( 12724780 )
2003
8
The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus. ( 11158025 )
2001
9
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. ( 11098935 )
2000
10
Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. ( 10475192 )
1999
11
CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. ( 10189842 )
1998
12
Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. ( 9398726 )
1997
13
Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. ( 9259273 )
1997
14
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. ( 8817351 )
1996

Variations for Celiac Disease 3

ClinVar genetic disease variations for Celiac Disease 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTLA4 NM_005214.5(CTLA4): c.49A> G (p.Thr17Ala) single nucleotide variant Benign rs231775 GRCh37 Chromosome 2, 204732714: 204732714
2 CTLA4 NM_005214.5(CTLA4): c.49A> G (p.Thr17Ala) single nucleotide variant Benign rs231775 GRCh38 Chromosome 2, 203867991: 203867991
3 CTLA4 NM_005214.5(CTLA4): c.*1148+236G> A single nucleotide variant risk factor rs3087243 GRCh37 Chromosome 2, 204738919: 204738919
4 CTLA4 NM_005214.5(CTLA4): c.*1148+236G> A single nucleotide variant risk factor rs3087243 GRCh38 Chromosome 2, 203874196: 203874196
5 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh37 Chromosome 2, 204735609: 204735609
6 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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