CELIAC8
MCID: CLC047
MIFTS: 18

Celiac Disease 8 (CELIAC8)

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

Aliases & Classifications for Celiac Disease 8

MalaCards integrated aliases for Celiac Disease 8:

Name: Celiac Disease 8 56
Celiac Disease, Susceptibility to, 8 56 13
Gluten-Sensitive Enteropathy, Susceptibility to, 8 56
Gluten-Sensitive Enteropathy 8 56
Celiac8 56

Classifications:



External Ids:

OMIM 56 612006
OMIM Phenotypic Series 56 PS212750
MedGen 41 C2677606

Summaries for Celiac Disease 8

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. (612006)

MalaCards based summary : Celiac Disease 8, also known as celiac disease, susceptibility to, 8, is related to celiac disease 1. An important gene associated with Celiac Disease 8 is CELIAC8 (Celiac Disease, Susceptibility To, 8). The drugs HIV Protease Inhibitors and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include small intestine.

Related Diseases for Celiac Disease 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 celiac disease 1 11.3

Symptoms & Phenotypes for Celiac Disease 8

Clinical features from OMIM:

612006

Drugs & Therapeutics for Celiac Disease 8

Drugs for Celiac Disease 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 HIV Protease Inhibitors Phase 2
2
protease inhibitors Phase 2
3 TIMP1 protein, human Phase 2
4 Tissue Inhibitor of Metalloproteinase-1 Phase 2
5 Matrix Metalloproteinase Inhibitors Phase 2
6 Tissue Inhibitor of Metalloproteinases Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled Study of the Safety, Pharmacodynamics, Efficacy, and Pharmacokinetics of TIMP-GLIA in Subjects With Well-controlled Celiac Disease Undergoing Oral Gluten Challenge Active, not recruiting NCT03738475 Phase 2 TIMP-GLIA;Placebo

Search NIH Clinical Center for Celiac Disease 8

Genetic Tests for Celiac Disease 8

Anatomical Context for Celiac Disease 8

MalaCards organs/tissues related to Celiac Disease 8:

40
Small Intestine

Publications for Celiac Disease 8

Articles related to Celiac Disease 8:

(show all 14)
# Title Authors PMID Year
1
A long noncoding RNA associated with susceptibility to celiac disease. 56
27034373 2016
2
Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection. 56
20560212 2010
3
Association of IL18RAP and CCR3 with coeliac disease in the Spanish population. 56
19542083 2009
4
Association study of the IL18RAP locus in three European populations with coeliac disease. 56
19103669 2009
5
Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease. 56
18805825 2009
6
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. 56
18439550 2008
7
Newly identified genetic risk variants for celiac disease related to the immune response. 56
18311140 2008
8
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 56
17558408 2007
9
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 56
17554300 2007
10
Interleukin 18 and associated markers of T helper cell type 1 activity in coeliac disease. 56
11788557 2002
11
Celiac sprue. 56
11796853 2002
12
Gluten-sensitive hypertransaminasemia in celiac disease: an infrequent and often subclinical finding. 61
21502996 2011
13
Diagnostic value of anti-Saccharomyces cerevisiae and antineutrophil cytoplasmic antibodies for inflammatory bowel disease: high prevalence in patients with celiac disease. 61
12405161 2002
14
Immunoassay for detection of IgA antitissue transglutaminase in patients with celiac disease. 61
21374443 2000

Variations for Celiac Disease 8

Expression for Celiac Disease 8

Search GEO for disease gene expression data for Celiac Disease 8.

Pathways for Celiac Disease 8

GO Terms for Celiac Disease 8

Sources for Celiac Disease 8

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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