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 57 12 13 6 15 72
Ibd5 57 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110889
UMLS 72 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 inflammatory bowel disease 1 and colitis. An important gene associated with Inflammatory Bowel Disease 5 is IBD5 (Inflammatory Bowel Disease 5). The drugs Parathyroid hormone and Calcium have been mentioned in the context of this disorder. Affiliated tissues include thyroid and colon, and related phenotype is digestive/alimentary.

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 15)
# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 1 29.8 SLC22A5 SLC22A4 NOD2
2 colitis 29.1 NOD2 IL23R ATG16L1
3 inflammatory bowel disease 28.9 NOD2 IL23R ATG16L1
4 ulcerative colitis 28.5 NOD2 IL23R ATG16L1
5 crohn's disease 26.8 SLC22A5 SLC22A4 NOD2 IL23R DLG5 ATG16L1
6 crohn's colitis 10.3
7 inflammatory bowel disease 6 10.1
8 spondyloarthropathy 10.1
9 undetermined colitis 10.1
10 inflammatory bowel disease 2 10.0 NOD2 DLG5
11 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
12 ileocolitis 9.8 NOD2 DLG5
13 spondylitis 9.7 NOD2 IL23R
14 psoriatic arthritis 9.5 NOD2 IL23R
15 intestinal disease 9.2 NOD2 IL23R 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 ATG16L1 IL23R NOD2 SLC22A4

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
Calcium Approved, Nutraceutical 7440-70-2 271
3 Hormones
4 Calcium, Dietary

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

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:

41
Thyroid, Colon

Publications for Inflammatory Bowel Disease 5

Articles related to Inflammatory Bowel Disease 5:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. 38 8 71
17213842 2007
2
Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population. 38 8 71
16333318 2006
3
Functional variants of OCTN cation transporter genes are associated with Crohn disease. 38 8 71
15107849 2004
4
Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. 38 8
16835882 2006
5
The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. 38 8
16344054 2005
6
Further evidence of IBD5/CARD15 (NOD2) epistasis in the susceptibility to ulcerative colitis. 38 8
14655097 2003
7
The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants. 38 8
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. 38 8
12776251 2003
9
Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease. 38 8
12618963 2003
10
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. 38 8
11586304 2001
11
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 8
18587394 2008
12
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 8
17554300 2007
13
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 8
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. 8
17447842 2007
15
A demonstration and findings of a statistical approach through reanalysis of inflammatory bowel disease data. 8
15231995 2004
16
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. 8
10777714 2000
17
THE EFFECT OF SULFASALAZINE AND 5-AMINOSALICYLIC ACID ON THE SECRETION OF INTERLEUKIN 8 BY HUMAN COLON MYOFIBROBLASTS. 38
26665398 2015
18
Improved integrative framework combining association data with gene expression features to prioritize Crohn's disease genes. 38
25935003 2015
19
Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions. 38
24415875 2014
20
Good prognosis for pericarditis with and without myocardial involvement: results from a multicenter, prospective cohort study. 38
23709669 2013
21
Duodenal intraepithelial lymphocytosis with normal villous architecture in pediatric patients: Mayo Clinic experience, 2000-2009. 38
22785416 2013
22
Contribution of higher risk genes and European admixture to Crohn's disease in African Americans. 38
22411504 2012
23
Association between inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) genetic polymorphisms in Malaysian patients with Crohn's disease. 38
22908971 2012
24
Crohn's disease genotypes of patients in remission vs relapses after infliximab discontinuation. 38
23049214 2012
25
Clinical and genetic risk factors for perianal Crohn's disease in a population-based cohort. 38
22158027 2012
26
Expression and functional analysis of intestinal organic cation/L-carnitine transporter (OCTN) in Crohn's disease. 38
22325173 2012
27
Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis. 38
22346247 2012
28
Perianal Crohn's disease: predictive factors and genotype-phenotype correlations. 38
22440928 2012
29
Crohn's disease and genetic hitchhiking at IBD5. 38
21816865 2012
30
Interaction between CTLA4 gene and IBD5 locus in Hungarian Crohn's disease patients. 38
21519805 2011
31
Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene. 38
21695374 2011
32
Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population. 38
21674708 2011
33
Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis. 38
21279723 2011
34
Effect of 70-nm silica particles on the toxicity of acetaminophen, tetracycline, trazodone, and 5-aminosalicylic acid in mice. 38
21612156 2011
35
Cytokine regulation of OCTN2 expression and activity in small and large intestine. 38
20722056 2011
36
Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort. 38
21079743 2010
37
Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients. 38
20066736 2010
38
Plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes. 38
19735486 2009
39
Etiology of perianal Crohn's disease: role of genetic, microbiological, and immunological factors. 38
19637358 2009
40
Epistasis between Toll-like receptor-9 polymorphisms and variants in NOD2 and IL23R modulates susceptibility to Crohn's disease. 38
19455129 2009
41
Association between genetic variants in myosin IXB and Crohn's disease. 38
19235913 2009
42
[Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases]. 38
19581171 2009
43
Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients. 38
19412005 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. 38
19214536 2009
45
Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort. 38
18824555 2009
46
Update on genetics in inflammatory disease. 38
19414149 2009
47
The genetics of Crohn's disease. 38
19453248 2009
48
Clinical and molecular characteristics of isolated colonic Crohn's disease. 38
18521924 2008
49
Runt-related transcription factor 3 is associated with ulcerative colitis and shows epistasis with solute carrier family 22, members 4 and 5. 38
18668679 2008
50
Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions. 38
18521914 2008

Variations for Inflammatory Bowel Disease 5

ClinVar genetic disease variations for Inflammatory Bowel Disease 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC22A5 SLC22A5, -207G-C single nucleotide variant Uncertain significance

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

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.54 NOD2 IL23R ICOSLG
2 positive regulation of activated T cell proliferation GO:0042104 9.32 IL23R ICOSLG
3 positive regulation of interleukin-17 production GO:0032740 9.26 NOD2 IL23R
4 carnitine transport GO:0015879 9.16 SLC22A5 SLC22A4
5 quaternary ammonium group transport GO:0015697 8.96 SLC22A5 SLC22A4
6 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 symporter activity GO:0015293 9.32 SLC22A5 SLC22A4
2 transporter activity GO:0005215 9.26 SLC22A5 SLC22A4
3 PDZ domain binding GO:0030165 9.16 SLC22A5 SLC22A4
4 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A5 SLC22A4
5 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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