IBD17
MCID: INF160
MIFTS: 27

Inflammatory Bowel Disease 17 (IBD17)

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

Aliases & Classifications for Inflammatory Bowel Disease 17

MalaCards integrated aliases for Inflammatory Bowel Disease 17:

Name: Inflammatory Bowel Disease 17 57 12 72 29 15 70
Inflammatory Bowel Disease 17, Protection Against 57 29 13 6
Ibd17 57 12 72
Bowel Disease, Inflammatory, Type 17 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110883
OMIM® 57 612261
OMIM Phenotypic Series 57 PS266600
MeSH 44 D015212
MedGen 41 C2677091
UMLS 70 C2677091

Summaries for Inflammatory Bowel Disease 17

UniProtKB/Swiss-Prot : 72 Inflammatory bowel disease 17: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

MalaCards based summary : Inflammatory Bowel Disease 17, also known as inflammatory bowel disease 17, protection against, is related to inflammatory bowel disease 12. An important gene associated with Inflammatory Bowel Disease 17 is IL23R (Interleukin 23 Receptor), and among its related pathways/superpathways are Acyl chain remodelling of PE and Linoleic acid metabolism. Affiliated tissues include colon and prostate.

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the IL23R gene on chromosome 1p31.3.

More information from OMIM: 612261 PS266600

Related Diseases for Inflammatory Bowel Disease 17

Symptoms & Phenotypes for Inflammatory Bowel Disease 17

Clinical features from OMIM®:

612261 (Updated 05-Apr-2021)

Drugs & Therapeutics for Inflammatory Bowel Disease 17

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 17

Genetic Tests for Inflammatory Bowel Disease 17

Genetic tests related to Inflammatory Bowel Disease 17:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 17 29 IL23R
2 Inflammatory Bowel Disease 17, Protection Against 29

Anatomical Context for Inflammatory Bowel Disease 17

MalaCards organs/tissues related to Inflammatory Bowel Disease 17:

40
Colon, Prostate

Publications for Inflammatory Bowel Disease 17

Articles related to Inflammatory Bowel Disease 17:

(show all 22)
# Title Authors PMID Year
1
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 6 57
20228799 2010
2
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 57 6
19122664 2009
3
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. 6 57
18438406 2008
4
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 57 6
17804789 2007
5
rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants. 6 57
17786191 2007
6
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 57 6
17447842 2007
7
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 6 57
17068223 2006
8
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 57
21983784 2011
9
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. 57
21151126 2011
10
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). 57
20228798 2010
11
Innate lymphoid cells drive interleukin-23-dependent innate intestinal pathology. 57
20393462 2010
12
Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. 57
19174780 2009
13
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. 57
18836448 2008
14
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 57
18587394 2008
15
Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. 6
17587057 2007
16
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 57
17554300 2007
17
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 57
17435756 2007
18
A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R. 6
12023369 2002
19
Gastroenterology training in Australia: a perspective from the coal face. 61
22372437 2012
20
Low-dose rate prostate brachytherapy is well tolerated in patients with a history of inflammatory bowel disease. 61
16887295 2006
21
The benefit of colonoscopy. 61
2305208 1990
22
Inflammation: imaging with Tc-99m HMPAO-labeled leukocytes. 61
3340775 1988

Variations for Inflammatory Bowel Disease 17

ClinVar genetic disease variations for Inflammatory Bowel Disease 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL23R NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) SNV protective 3108 rs11209026 GRCh37: 1:67705958-67705958
GRCh38: 1:67240275-67240275

Expression for Inflammatory Bowel Disease 17

Search GEO for disease gene expression data for Inflammatory Bowel Disease 17.

Pathways for Inflammatory Bowel Disease 17

Pathways related to Inflammatory Bowel Disease 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 PLA2G6 PLA2G4B
2
Show member pathways
11.02 PLA2G6 PLA2G4B
3 10.61 PLA2G6 PLA2G4B

GO Terms for Inflammatory Bowel Disease 17

Biological processes related to Inflammatory Bowel Disease 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.16 PLA2G6 PLA2G4B
2 phosphatidylcholine acyl-chain remodeling GO:0036151 8.96 PLA2G6 PLA2G4B
3 phosphatidylethanolamine acyl-chain remodeling GO:0036152 8.62 PLA2G6 PLA2G4B

Molecular functions related to Inflammatory Bowel Disease 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipase A2 activity GO:0004623 9.32 PLA2G6 PLA2G4B
2 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 9.26 PLA2G6 PLA2G4B
3 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 9.16 PLA2G6 PLA2G4B
4 lysophospholipase activity GO:0004622 8.96 PLA2G6 PLA2G4B
5 phosphatidyl phospholipase B activity GO:0102545 8.62 PLA2G6 PLA2G4B

Sources for Inflammatory Bowel Disease 17

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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