MCID: CLC037
MIFTS: 14

Celiac Disease 4

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

Aliases & Classifications for Celiac Disease 4

MalaCards integrated aliases for Celiac Disease 4:

Name: Celiac Disease 4 57 75 29 6
Celiac Disease, Susceptibility to, 4 57 13
Gluten-Sensitive Enteropathy 4 57 75
Celiac4 57 75
Gluten-Sensitive Enteropathy, Susceptibility to, 4 57
Celiac Disease, Susceptibility to, Type 4 40

Classifications:



External Ids:

OMIM 57 609753
MedGen 42 C1857847
MeSH 44 D002446

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)

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

UniProtKB/Swiss-Prot : 75 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 10.0

Symptoms & Phenotypes for Celiac Disease 4

Clinical features from OMIM:

609753

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:

41
Small Intestine

Publications for Celiac Disease 4

Variations for Celiac Disease 4

ClinVar genetic disease variations for Celiac Disease 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO9B NM_001130065.1(MYO9B): c.4879-123G> A single nucleotide variant risk factor rs2305764 GRCh38 Chromosome 19, 17203024: 17203024
2 MYO9B NM_001130065.1(MYO9B): c.4879-123G> A single nucleotide variant risk factor rs2305764 GRCh37 Chromosome 19, 17313833: 17313833

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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