IBD5
MCID: INF088
MIFTS: 32

Inflammatory Bowel Disease 5 (IBD5)

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

Aliases & Classifications for Inflammatory Bowel Disease 5

MalaCards integrated aliases for Inflammatory Bowel Disease 5:

Name: Inflammatory Bowel Disease 5 56 12 13 6 15 71
Ibd5 56 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110889
OMIM 56 606348
OMIM Phenotypic Series 56 PS266600
UMLS 71 C1853438

Summaries for Inflammatory Bowel Disease 5

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.

MalaCards based summary : Inflammatory Bowel Disease 5, also known as ibd5, is related to crohn's colitis and inflammatory bowel disease 6. An important gene associated with Inflammatory Bowel Disease 5 is IBD5 (Inflammatory Bowel Disease 5). The drugs Parathyroid hormone and Cola have been mentioned in the context of this disorder. Affiliated tissues include colon and thyroid, and related phenotype is immune system.

More information from OMIM: 606348 PS266600

Related Diseases for Inflammatory Bowel Disease 5

Diseases in the Inflammatory Bowel Disease family:

Inflammatory Bowel Disease 11 Inflammatory Bowel Disease 1
Inflammatory Bowel Disease 2 Inflammatory Bowel Disease 3
Inflammatory Bowel Disease 7 Inflammatory Bowel Disease 5
Inflammatory Bowel Disease 8 Inflammatory Bowel Disease 6
Inflammatory Bowel Disease 4 Inflammatory Bowel Disease 9
Inflammatory Bowel Disease 10 Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13 Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15 Inflammatory Bowel Disease 16
Inflammatory Bowel Disease 17 Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19 Inflammatory Bowel Disease 20
Inflammatory Bowel Disease 21 Inflammatory Bowel Disease 22
Inflammatory Bowel Disease 23 Inflammatory Bowel Disease 24
Inflammatory Bowel Disease 25, Autosomal Recessive Inflammatory Bowel Disease 26
Inflammatory Bowel Disease 27 Inflammatory Bowel Disease 28, Autosomal Recessive
Inflammatory Bowel Disease 29 Inflammatory Bowel Disease 28
Inflammatory Bowel Disease 25 Rare Inflammatory Bowel Disease

Diseases related to Inflammatory Bowel Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 crohn's colitis 30.6 NOD2 CCR6 ATG16L1
2 inflammatory bowel disease 6 29.7 NOD2 MYO9B IL23R ATG16L1
3 colitis 29.0 NOD2 MYO9B IRGM IL23R ICOSLG CCR6
4 ulcerative colitis 28.2 TNFSF15 NOD2 MYO9B IRGM IL23R CCR6
5 crohn's disease 27.3 TNFSF15 SLC22A5 SLC22A4 NOD2 NKX2-3 IRGM
6 inflammatory bowel disease 1 27.0 TNFSF15 SLC22A5 SLC22A4 OR5V1 NOD2 NKX2-3
7 inflammatory bowel disease 26.4 TNFSF15 SLC22A5 SLC22A4 NOD2 NKX2-3 MYO9B
8 paranasal sinus disease 10.2 ICOSLG CCR6 ALOX5
9 diffuse cutaneous systemic sclerosis 10.2 ICOSLG CCR6
10 dacryoadenitis 10.2 ICOSLG CCR6
11 inflammatory bowel disease 3 10.2 NOD2 IL23R
12 hypersensitivity reaction type iv disease 10.2 NOD2 ICOSLG CCR6
13 bronchial disease 10.2 ICOSLG CCR6 ALOX5
14 ileocolitis 10.2 NOD2 ATG16L1
15 panuveitis 10.2 IL23R ICOSLG CCR6
16 spondyloarthropathy 10.1
17 undetermined colitis 10.1
18 lymphadenitis 10.1 NOD2 ICOSLG CCR6
19 ileitis 10.1 NOD2 CCR6 ATG16L1
20 primary bacterial infectious disease 10.1 NOD2 ICOSLG CCR6
21 allergic hypersensitivity disease 10.1 ICOSLG CCR6 ALOX5
22 cholangitis, primary sclerosing 10.1 NOD2 ICOSLG CCR6
23 iritis 10.1 NOD2 CCR6
24 spondylitis 10.1 NOD2 IL23R CCR6
25 inflammatory bowel disease 9 10.0 RNF186 NOD2 CCR6
26 testicular disease 10.0 TNFSF15 NOD2 CCR6
27 inflammatory bowel disease 19 10.0 TNFSF15 NOD2 IRGM
28 uveal disease 10.0 NOD2 IL23R ICOSLG CCR6
29 spondyloarthropathy 1 10.0 NOD2 IL23R ICOSLG CCR6
30 behcet syndrome 9.9 NOD2 IL23R ICOSLG CCR6
31 autoimmune disease of gastrointestinal tract 9.9 MYO9B ICOSLG CCR6
32 sarcoidosis 1 9.9 NOD2 ICOSLG CCR6
33 inflammatory bowel disease 2 9.7 RNF186 NOD2 NKX2-3 ATG16L1
34 psoriatic arthritis 9.6 NOD2 IL23R CCR6
35 leprosy 3 9.6 TNFSF15 NOD2 IRGM IL23R CCR6
36 celiac disease 1 9.3 NOD2 MYO9B IL23R ICOSLG CCR6 ATG16L1

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 5:



Diseases related to Inflammatory Bowel Disease 5

Symptoms & Phenotypes for Inflammatory Bowel Disease 5

Clinical features from OMIM:

606348

MGI Mouse Phenotypes related to Inflammatory Bowel Disease 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.32 ALOX5 ATG16L1 CCR6 IL23R MYO9B NKX2-3

Drugs & Therapeutics for Inflammatory Bowel Disease 5

Drugs for Inflammatory Bowel Disease 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational 9002-64-6
2 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acupuncture for Reduction of Inflammation in Thyroid and Parathyroid Surgery: Randomized, Prospective Double Blind Pilot Clinical Trial Completed NCT01937520
2 COmparison of White Light and Linked COlor Imaging for Detection of RIght COlon Polyps: A Multi Center Prospective Randomized Tandem Colonoscopy Study Recruiting NCT04112563

Search NIH Clinical Center for Inflammatory Bowel Disease 5

Genetic Tests for Inflammatory Bowel Disease 5

Anatomical Context for Inflammatory Bowel Disease 5

MalaCards organs/tissues related to Inflammatory Bowel Disease 5:

40
Colon, Thyroid

Publications for Inflammatory Bowel Disease 5

Articles related to Inflammatory Bowel Disease 5:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. 56 6 61
17213842 2007
2
Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population. 6 56 61
16333318 2006
3
Functional variants of OCTN cation transporter genes are associated with Crohn disease. 6 56 61
15107849 2004
4
Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. 61 56
16835882 2006
5
The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. 61 56
16344054 2005
6
Further evidence of IBD5/CARD15 (NOD2) epistasis in the susceptibility to ulcerative colitis. 56 61
14655097 2003
7
The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants. 61 56
12928481 2003
8
IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis. 61 56
12776251 2003
9
Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease. 61 56
12618963 2003
10
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. 61 56
11586304 2001
11
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 56
18587394 2008
12
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 56
17554300 2007
13
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 56
17435756 2007
14
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 56
17447842 2007
15
A demonstration and findings of a statistical approach through reanalysis of inflammatory bowel disease data. 56
15231995 2004
16
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. 56
10777714 2000
17
Inactivation of Interferon Regulatory Factor 1 Causes Susceptibility to Colitis-Associated Colorectal Cancer. 61
31827213 2019
18
THE EFFECT OF SULFASALAZINE AND 5-AMINOSALICYLIC ACID ON THE SECRETION OF INTERLEUKIN 8 BY HUMAN COLON MYOFIBROBLASTS. 61
26665398 2015
19
Improved integrative framework combining association data with gene expression features to prioritize Crohn's disease genes. 61
25935003 2015
20
Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions. 61
24415875 2014
21
Good prognosis for pericarditis with and without myocardial involvement: results from a multicenter, prospective cohort study. 61
23709669 2013
22
Duodenal intraepithelial lymphocytosis with normal villous architecture in pediatric patients: Mayo Clinic experience, 2000-2009. 61
22785416 2013
23
Contribution of higher risk genes and European admixture to Crohn's disease in African Americans. 61
22411504 2012
24
Association between inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) genetic polymorphisms in Malaysian patients with Crohn's disease. 61
22908971 2012
25
Crohn's disease genotypes of patients in remission vs relapses after infliximab discontinuation. 61
23049214 2012
26
Clinical and genetic risk factors for perianal Crohn's disease in a population-based cohort. 61
22158027 2012
27
Expression and functional analysis of intestinal organic cation/L-carnitine transporter (OCTN) in Crohn's disease. 61
22325173 2012
28
Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis. 61
22346247 2012
29
Perianal Crohn's disease: predictive factors and genotype-phenotype correlations. 61
22440928 2012
30
Crohn's disease and genetic hitchhiking at IBD5. 61
21816865 2012
31
Interaction between CTLA4 gene and IBD5 locus in Hungarian Crohn's disease patients. 61
21519805 2011
32
Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene. 61
21695374 2011
33
Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population. 61
21674708 2011
34
Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis. 61
21279723 2011
35
Effect of 70-nm silica particles on the toxicity of acetaminophen, tetracycline, trazodone, and 5-aminosalicylic acid in mice. 61
21612156 2011
36
Cytokine regulation of OCTN2 expression and activity in small and large intestine. 61
20722056 2011
37
Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort. 61
21079743 2010
38
Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients. 61
20066736 2010
39
Plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes. 61
19735486 2009
40
Etiology of perianal Crohn's disease: role of genetic, microbiological, and immunological factors. 61
19637358 2009
41
Epistasis between Toll-like receptor-9 polymorphisms and variants in NOD2 and IL23R modulates susceptibility to Crohn's disease. 61
19455129 2009
42
Association between genetic variants in myosin IXB and Crohn's disease. 61
19235913 2009
43
[Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases]. 61
19581171 2009
44
IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn's disease in Hungarian patients. 61
19214536 2009
45
Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients. 61
19412005 2009
46
Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort. 61
18824555 2009
47
Update on genetics in inflammatory disease. 61
19414149 2009
48
The genetics of Crohn's disease. 61
19453248 2009
49
Clinical and molecular characteristics of isolated colonic Crohn's disease. 61
18521924 2008
50
Runt-related transcription factor 3 is associated with ulcerative colitis and shows epistasis with solute carrier family 22, members 4 and 5. 61
18668679 2008

Variations for Inflammatory Bowel Disease 5

ClinVar genetic disease variations for Inflammatory Bowel Disease 5:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC22A5 SLC22A5, -207G-CSNV Uncertain significance 30354

Expression for Inflammatory Bowel Disease 5

Search GEO for disease gene expression data for Inflammatory Bowel Disease 5.

Pathways for Inflammatory Bowel Disease 5

GO Terms for Inflammatory Bowel Disease 5

Cellular components related to Inflammatory Bowel Disease 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.47 TNFSF15 SLC22A5 SLC22A4 RNF186 OR5V1 NOD2

Biological processes related to Inflammatory Bowel Disease 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of interleukin-17 production GO:0032740 9.4 NOD2 IL23R
2 leukocyte migration involved in inflammatory response GO:0002523 9.37 CCR6 ALOX5
3 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.32 NOD2 IRGM
4 carnitine transport GO:0015879 9.26 SLC22A5 SLC22A4
5 protein lipidation involved in autophagosome assembly GO:0061739 9.16 IRGM ATG16L1
6 quaternary ammonium group transport GO:0015697 8.96 SLC22A5 SLC22A4
7 carnitine transmembrane transport GO:1902603 8.62 SLC22A5 SLC22A4

Molecular functions related to Inflammatory Bowel Disease 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CARD domain binding GO:0050700 9.26 NOD2 IRGM
2 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.16 P4HA2 ALOX5
3 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A5 SLC22A4
4 carnitine transmembrane transporter activity GO:0015226 8.62 SLC22A5 SLC22A4

Sources for Inflammatory Bowel Disease 5

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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