CELIAC4
MCID: CLC037
MIFTS: 18

Celiac Disease 4 (CELIAC4)

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

Aliases & Classifications for Celiac Disease 4

MalaCards integrated aliases for Celiac Disease 4:

Name: Celiac Disease 4 57 72 29 6
Celiac Disease, Susceptibility to, 4 57 13
Gluten-Sensitive Enteropathy 4 57 72
Celiac4 57 72
Gluten-Sensitive Enteropathy, Susceptibility to, 4 57
Celiac Disease, Susceptibility to, Type 4 39

Classifications:



External Ids:

OMIM® 57 609753
OMIM Phenotypic Series 57 PS212750
MeSH 44 D002446
MedGen 41 C1857847

Summaries for Celiac Disease 4

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. (609753) (Updated 20-May-2021)

MalaCards based summary : Celiac Disease 4, also known as celiac disease, susceptibility to, 4, is related to celiac disease 1 and celiac disease 3. An important gene associated with Celiac Disease 4 is MYO9B (Myosin IXB). Affiliated tissues include small intestine.

UniProtKB/Swiss-Prot : 72 Celiac disease 4: 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 4

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 4 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 3 9.9

Symptoms & Phenotypes for Celiac Disease 4

Clinical features from OMIM®:

609753 (Updated 20-May-2021)

Drugs & Therapeutics for Celiac Disease 4

Search Clinical Trials , NIH Clinical Center for Celiac Disease 4

Genetic Tests for Celiac Disease 4

Genetic tests related to Celiac Disease 4:

# Genetic test Affiliating Genes
1 Celiac Disease 4 29 MYO9B

Anatomical Context for Celiac Disease 4

MalaCards organs/tissues related to Celiac Disease 4:

40
Small Intestine

Publications for Celiac Disease 4

Articles related to Celiac Disease 4:

(show all 13)
# Title Authors PMID Year
1
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. 6 57
16282976 2005
2
Permeability, zonulin production, and enteropathy in dermatitis herpetiformis. 6
15822038 2005
3
Meta and pooled analysis of European coeliac disease data. 57
14571266 2003
4
A major non-HLA locus in celiac disease maps to chromosome 19. 57
14517787 2003
5
Celiac sprue. 57
11796853 2002
6
Less common etiologies of exocrine pancreatic insufficiency. 61
29093615 2017
7
[Assessment of an algorithm to identify paediatric-onset celiac disease cases through administrative healthcare databases]. 61
28627151 2017
8
Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4. 61
17767555 2007
9
Analysis of candidate genes on chromosomes 5q and 19p in celiac disease. 61
17667713 2007
10
A functional candidate screen for coeliac disease genes. 61
16835590 2006
11
Lymphocytic esophagitis: a histologic subset of chronic esophagitis. 61
16613348 2006
12
Enterovirus infection during pregnancy is not a risk factor for celiac disease in the offspring. 61
12454580 2002
13
Celiac disease is highly prevalent in lymphocytic colitis. 61
11246349 2001

Variations for Celiac Disease 4

ClinVar genetic disease variations for Celiac Disease 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO9B NM_001130065.2(MYO9B):c.4879-123G>A SNV risk factor 7521 rs2305764 GRCh37: 19:17313833-17313833
GRCh38: 19:17203024-17203024

Expression for Celiac Disease 4

Search GEO for disease gene expression data for Celiac Disease 4.

Pathways for Celiac Disease 4

GO Terms for Celiac Disease 4

Sources for Celiac Disease 4

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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