MCID: CLC048
MIFTS: 16

Celiac Disease 3

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

Aliases & Classifications for Celiac Disease 3

MalaCards integrated aliases for Celiac Disease 3:

Name: Celiac Disease 3 53 71 28
Celiac Disease, Susceptibility to, 3 53 13
Gluten-Sensitive Enteropathy 3 53 71
Celiac3 53 71
Gluten-Sensitive Enteropathy, Susceptibility to, 3 53

Classifications:



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OMIM 53 609755
MedGen 39 C1857845
MeSH 41 D002446

Summaries for Celiac Disease 3

OMIM : 53 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.

UniProtKB/Swiss-Prot : 71 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

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 28 CTLA4

Anatomical Context for Celiac Disease 3

MalaCards organs/tissues related to Celiac Disease 3:

38
Small Intestine

Publications for Celiac Disease 3

Articles related to Celiac Disease 3:

# Title Authors Year
1
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. ( 17767555 )
2007

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_005214.4(CTLA4): c.49A> G (p.Thr17Ala) single nucleotide variant risk factor rs231775 GRCh37 Chromosome 2, 204732714: 204732714
2 CTLA4 CTLA4, 60A-G, 3-PRIME UTR single nucleotide variant risk factor

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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