IBD3
MCID: INF086
MIFTS: 32

Inflammatory Bowel Disease 3 (IBD3)

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

Aliases & Classifications for Inflammatory Bowel Disease 3

MalaCards integrated aliases for Inflammatory Bowel Disease 3:

Name: Inflammatory Bowel Disease 3 56 12 13 15 71
Ibd3 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
inflammatory bowel disease 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110891
OMIM 56 604519
OMIM Phenotypic Series 56 PS266600
MedGen 41 C1858303
SNOMED-CT via HPO 68 263681008 64766004
UMLS 71 C1858303

Summaries for Inflammatory Bowel Disease 3

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.

MalaCards based summary : Inflammatory Bowel Disease 3, also known as ibd3, is related to inflammatory bowel disease 1 and inflammatory bowel disease. An important gene associated with Inflammatory Bowel Disease 3 is IBD3 (Inflammatory Bowel Disease 3). Affiliated tissues include colon, testes and bone, and related phenotype is ulcerative colitis.

More information from OMIM: 604519 PS266600

Related Diseases for Inflammatory Bowel Disease 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 1 29.9 PPM1L NOD2 IL23R ADGRE3
2 inflammatory bowel disease 29.6 NOD2 IL23R IL12B IBD3 HLA-C
3 celiac disease 1 29.1 NOD2 IL23R HLA-C
4 inflammatory bowel disease 2 29.0 PPP2R2C PPM1L PPM1K NOD2 HOGA1
5 guttate psoriasis 10.3 NOD2 HLA-C
6 inflammatory bowel disease 24 10.2 RNF114 HLA-C
7 inflammatory bowel disease 19 10.2 RNF114 NOD2
8 alveolar soft part sarcoma 10.2
9 inflammatory bowel disease 17 10.1 RNF114 IL23R
10 inflammatory bowel disease 5 10.1 NOD2 IL23R
11 inflammatory bowel disease 9 10.1 NOD2 IL12B
12 spondylitis 10.0 NOD2 IL23R HLA-C
13 esophagitis, eosinophilic, 1 9.9
14 microscopic colitis 9.9
15 esophagitis 9.9
16 intestinal tuberculosis 9.9
17 gastrointestinal system disease 9.9
18 ulcerative colitis 9.9
19 crohn's disease 9.9
20 irritable bowel syndrome 9.9
21 dysphagia 9.9
22 psoriatic arthritis 9.8 NOD2 IL23R HLA-C
23 behcet syndrome 9.8 NOD2 IL23R HLA-C
24 gamma-amino butyric acid metabolism disorder 9.8 KAAG1 C6orf62
25 inflammatory bowel disease 4 9.6 PPP2R2C PPM1L NOD2 HOGA1
26 succinic semialdehyde dehydrogenase deficiency 9.6 KAAG1 C6orf62
27 psoriasis 9.6 NOD2 IL23R IL12B HLA-C
28 inflammatory bowel disease 6 9.5 RNF114 PPM1L NOD2 IL23R ADGRE3
29 inflammatory bowel disease 7 9.5 PPP2R2C PPM1L PPM1K NOD2

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 3:



Diseases related to Inflammatory Bowel Disease 3

Symptoms & Phenotypes for Inflammatory Bowel Disease 3

Human phenotypes related to Inflammatory Bowel Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 ulcerative colitis 31 HP:0100279

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
ulcerative colitis
regional enteritis
mixed inflammatory bowel disease

Clinical features from OMIM:

604519

Drugs & Therapeutics for Inflammatory Bowel Disease 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Study of Inflammatory Bowel Disease Completed NCT00340444
2 Usefulness of Narrow Band Imaging (NBI) for Complete Endoscopic Resection of Sessile Serrated Adenoma/Polyp (SSA/P): NASA Study Completed NCT03761667

Search NIH Clinical Center for Inflammatory Bowel Disease 3

Genetic Tests for Inflammatory Bowel Disease 3

Anatomical Context for Inflammatory Bowel Disease 3

MalaCards organs/tissues related to Inflammatory Bowel Disease 3:

40
Colon, Testes, Bone

Publications for Inflammatory Bowel Disease 3

Articles related to Inflammatory Bowel Disease 3:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors. 61 56
12019209 2002
2
Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6. 61 56
12032734 2002
3
Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3). 61 56
11528509 2001
4
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 56
20228799 2010
5
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 56
19122664 2009
6
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. 56
18836448 2008
7
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. 56
18438406 2008
8
TNFalpha and IL10 SNPs act together to predict disease behaviour in Crohn's disease. 56
15937090 2005
9
Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. 56
14976156 2004
10
Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn's disease, respectively. 56
11904678 2002
11
Cytokine (TNF alpha, LT alpha and IL-10) polymorphisms in inflammatory bowel diseases and normal controls: differential effects on production and allele frequencies. 56
11196710 2000
12
Linkage of inflammatory bowel disease to human chromosome 6p. 56
10577918 1999
13
Unlinking tumor necrosis factor biology from the major histocompatibility complex: lessons from human genetics and animal models. 56
10417271 1999
14
A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. 56
10053016 1999
15
Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. 56
8841195 1996
16
Short-term outcomes of the over-the-scope clip proctology system for rectovaginal fistula repair: a prospective study. 61
30937645 2019
17
A High Rate of Alternative Diagnoses in Patients Referred for Presumed Clostridium difficile Infection. 61
26565971 2016
18
Myeloperoxidase-antineutrophil Cytoplasmic Antibodies (MPO-ANCA) and Proteinase 3-ANCA without Immunofluorescent ANCA Found by Routine Clinical Testing. 61
25834211 2015
19
Immunogenetic biomarkers in inflammatory bowel diseases: role of the IBD3 region. 61
25386052 2014
20
Association of TNF-α -857 Polymorphism with Inflammatory Bowel Disease in a Group of Iranian Azeri Individuals. 61
24829702 2014
21
Periappendicitis: our 13 year experience. 61
25084099 2014
22
Syphilitic and lymphogranuloma venereum (LGV) proctocolitis: clues to a frequently missed diagnosis. 61
23095509 2013
23
[Diagnosis of inflammatory bowel disease. 3. Inflammatory bowel disease and diseases to be differentiated from]. 61
19334355 2009
24
Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk. 61
18698679 2008
25
Novel genetic markers in inflammatory bowel disease. 61
17948929 2007
26
The 14-bp deletion polymorphism in the HLA-G gene displays significant differences between ulcerative colitis and Crohn's disease and is associated with ileocecal resection in Crohn's disease. 61
17446213 2007
27
Crohn's disease and polymorphism of heat shock protein gene HSP70-2 in the Tunisian population. 61
17301649 2007
28
Hematopoietic cell transplantation for Crohn's disease; is it time? 61
17075981 2006
29
Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study. 61
17052659 2006
30
Genetics of inflammatory bowel disease: the role of the HLA complex. 61
16773677 2006
31
Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus. 61
16542294 2006
32
Pyoderma gangrenosum versus chronic venous ulceration: comparison of diagnostic features. 61
17241569 2006
33
IBD1 and IBD3 determine location of Crohn's disease in the Spanish population. 61
15626888 2004
34
A genome scan in 260 inflammatory bowel disease-affected relative pairs. 61
15472510 2004
35
[Genetics of inflammatory bowel disease]. 61
15552020 2004
36
Genome wide scan in a Flemish inflammatory bowel disease population: support for the IBD4 locus, population heterogeneity, and epistasis. 61
15194648 2004
37
Inflammatory bowel disease gene hunting by linkage analysis: rationale, methodology, and present status of the field. 61
15290927 2004
38
Fulminant Crohn's colitis after allogeneic stem cell transplantation. 61
12970148 2003
39
Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population. 61
12795465 2003
40
[Inflammatory bowel disease: 3 mainly by histology detectable variant forms]. 61
12693318 2003
41
The genetics of inflammatory bowel disease. 61
12557156 2003
42
Association of TNF-α-857C with Inflammatory Bowel Disease in the Australian Population. 61
28443765 2003
43
Investigation of HLA-DPA1 genotypes as predictors of inflammatory bowel disease in the German, South African, and South Korean populations. 61
12073072 2002
44
Review article: the genetics of inflammatory bowel disease. 61
11380312 2001
45
High-density genome scan in Crohn disease shows confirmed linkage to chromosome 14q11-12. 61
10747815 2000
46
Inflammatory bowel disease. 3: importance of partnership in care. 61
10711032 1999
47
Genetics of inflammatory bowel disease. 61
9682668 1998
48
Idiopathic adulthood ductopenia: an update. 61
9511789 1998
49
Colonoscopy without sedation. 61
8603544 1996
50
Gracilis myocutaneous flap to reconstruct large perineal defects. 61
8919343 1996

Variations for Inflammatory Bowel Disease 3

Expression for Inflammatory Bowel Disease 3

Search GEO for disease gene expression data for Inflammatory Bowel Disease 3.

Pathways for Inflammatory Bowel Disease 3

GO Terms for Inflammatory Bowel Disease 3

Biological processes related to Inflammatory Bowel Disease 3 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of interferon-gamma production GO:0032729 9.58 IL23R IL12B
2 positive regulation of defense response to virus by host GO:0002230 9.58 IL23R IL12B
3 positive regulation of activated T cell proliferation GO:0042104 9.57 IL23R IL12B
4 positive regulation of interleukin-12 production GO:0032735 9.56 IL23R IL12B
5 positive regulation of T cell mediated cytotoxicity GO:0001916 9.55 IL23R IL12B
6 positive regulation of interleukin-10 production GO:0032733 9.54 NOD2 IL12B
7 positive regulation of osteoclast differentiation GO:0045672 9.52 IL23R IL12B
8 negative regulation of interleukin-10 production GO:0032693 9.51 IL23R IL12B
9 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.49 IL23R IL12B
10 interleukin-23-mediated signaling pathway GO:0038155 9.48 IL23R IL12B
11 positive regulation of T-helper 1 type immune response GO:0002827 9.46 IL23R IL12B
12 positive regulation of natural killer cell proliferation GO:0032819 9.43 IL23R IL12B
13 positive regulation of T-helper 17 type immune response GO:2000318 9.4 IL23R IL12B
14 positive regulation of activation of Janus kinase activity GO:0010536 9.37 IL23R IL12B
15 positive regulation of memory T cell differentiation GO:0043382 9.32 IL23R IL12B
16 regulation of tyrosine phosphorylation of STAT protein GO:0042509 9.26 IL23R IL12B
17 positive regulation of NK T cell activation GO:0051135 9.16 IL23R IL12B
18 positive regulation of T-helper 17 cell lineage commitment GO:2000330 8.96 IL23R IL12B
19 positive regulation of interleukin-17 production GO:0032740 8.8 NOD2 IL23R IL12B

Molecular functions related to Inflammatory Bowel Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 9.32 IL23R IL12B
2 cation binding GO:0043169 9.26 PPM1L PPM1K
3 magnesium-dependent protein serine/threonine phosphatase activity GO:0004724 9.16 PPM1L PPM1K
4 protein serine/threonine phosphatase activity GO:0004722 9.13 PPP2R2C PPM1L PPM1K
5 interleukin-12 receptor binding GO:0005143 8.62 IL23R IL12B

Sources for Inflammatory Bowel Disease 3

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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