IBD3
MCID: INF086
MIFTS: 37

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 57 12 13 15 73
Ibd3 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
inflammatory bowel disease 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604519
Disease Ontology 12 DOID:0110891
MedGen 42 C1858303
SNOMED-CT via HPO 69 263681008 64766004
UMLS 73 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 crohn's disease and inflammatory bowel disease. An important gene associated with Inflammatory Bowel Disease 3 is IBD3 (Inflammatory Bowel Disease 3), and among its related pathways/superpathways are Innate Immune System and Toll-like Receptor Signaling Pathway. Affiliated tissues include bone and t cells, and related phenotype is ulcerative colitis.

Description from OMIM: 604519

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

Diseases related to Inflammatory Bowel Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 crohn's disease 30.2 HSPA2 NOD2 TNF
2 inflammatory bowel disease 28.2 CCL20 HLA-DPA1 IBD3 IL11 IL18 NOD1
3 perrault syndrome 1 11.1
4 inflammatory bowel disease 2 10.2 HOGA1 NOD2
5 lymphoproliferative syndrome, x-linked, 2 10.2 NOD1 NOD2
6 ileocolitis 10.2 NOD2 TNF
7 granulomatous dermatitis 10.2 NOD2 TNF
8 beryllium disease 10.2 HLA-DPA1 TNF
9 chronic beryllium disease 10.1 HLA-DPA1 TNF
10 inflammatory bowel disease 1 10.1 HOGA1 NOD1 NOD2
11 inflammatory bowel disease 4 10.1 HOGA1 NOD2 NPL
12 crohn's colitis 10.1 NOD2 TNF
13 ocular toxoplasmosis 10.1 MICA NOD2
14 blau syndrome 10.1 NOD1 NOD2 TNF
15 glaucomatocyclitic crisis 10.0 HLA-DPA1 HLA-G TNF
16 streptococcal meningitis 10.0 NOD2 TNF
17 chronic graft versus host disease 10.0 MICA TNF
18 spondylitis 10.0 MICA NOD2 TNF
19 intrahepatic cholestasis of pregnancy 10.0 HLA-DPA1 HLA-G TNF
20 sapho syndrome 10.0 IL18 NOD2
21 psoriatic arthritis 9.9 MICA NOD2 TNF
22 spondylarthropathy 9.9 NOD2 TNF
23 acute graft versus host disease 9.9 IL18 NOD2 TNF
24 lymphadenitis 9.9 IL18 NOD2 TNF
25 sarcoidosis 1 9.9 IL18 NOD2 TNF
26 stachybotrys chartarum 9.9 IL18 TNF
27 celiac disease 1 9.8 HLA-DPA1 HLA-G MICA TNF
28 t-cell large granular lymphocyte leukemia 9.8 IL18 MICA
29 listeria meningitis 9.8 CCL20 IL18 TNF
30 bacterial infectious disease 9.8 IL18 NOD1 NOD2 TNF
31 behcet syndrome 9.7 IL18 MICA NOD2 TNF
32 arthritis 9.7 IL18 MICA NOD2 TNF
33 inflammatory bowel disease 9 9.6 CCL20 IL11 IL18 NOD1 NOD2
34 psoriasis 9.5 CCL20 IL18 MICA TNF
35 asthma 9.5 HLA-G IL11 IL18 NOD1 TNF

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
ulcerative colitis
regional enteritis
mixed inflammatory bowel disease


Clinical features from OMIM:

604519

Human phenotypes related to Inflammatory Bowel Disease 3:

32
# Description HPO Frequency HPO Source Accession
1 ulcerative colitis 32 HP:0100279

Drugs & Therapeutics for Inflammatory Bowel Disease 3

Search Clinical Trials , 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:

41
Bone, T Cells

Publications for Inflammatory Bowel Disease 3

Articles related to Inflammatory Bowel Disease 3:

# Title Authors Year
1
Immunogenetic biomarkers in inflammatory bowel diseases: role of the IBD3 region. ( 25386052 )
2014
2
Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3). ( 11528509 )
2001
3
Inflammatory bowel disease. 3: importance of partnership in care. ( 10711032 )
1999

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

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 CCL20 HLA-DPA1 HLA-G IL11 IL18 MICA
2
Show member pathways
12.87 IL18 NOD1 NOD2 RELA TNF
3
Show member pathways
12.72 CCL20 HLA-DPA1 HLA-G IL11 IL18 NOD1
4
Show member pathways
12.57 HLA-DPA1 HLA-G HSPA2 IL18 RELA TNF
5
Show member pathways
12.54 HLA-DPA1 HLA-G HSPA2 IL18 MICA RELA
6
Show member pathways
12.48 HLA-DPA1 IL18 RELA TNF
7
Show member pathways
12.43 HLA-DPA1 IL18 NOD2 RELA TNF
8 12.31 HLA-DPA1 HLA-G RELA TNF
9 12.16 HLA-DPA1 HLA-G RELA TNF
10
Show member pathways
12.12 HLA-DPA1 HSPA2 RELA TNF
11
Show member pathways
12.03 CCL20 IL11 RELA TNF
12 12.02 HLA-DPA1 IL18 NOD2 RELA TNF
13 11.82 CCL20 NOD2 RELA TNF
14 11.77 HLA-DPA1 IL11 TNF
15 11.66 NOD1 RELA TNF
16 11.61 CCL20 IL18 TNF
17 11.56 NOD1 NOD2 RELA
18 11.39 CCL20 IL18 TNF
19 11.36 HSPA2 IL18 RELA TNF
20 11.07 CCL20 IL11 IL18 TNF
21 11.07 IL18 NOD1 NOD2 RELA
22 11.01 CCL20 RELA TNF
23 10.98 CCL20 HLA-DPA1 IL11 IL18 TNF
24 10.97 IL18 TNF
25 10.97 NOD2 RELA TNF
26 10.42 IL18 RELA

GO Terms for Inflammatory Bowel Disease 3

Cellular components related to Inflammatory Bowel Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.02 HLA-DPA1 HSPA2 MICA NOD2 TNF

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.96 CCL20 IL11 IL18 TNF
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.9 CCL20 NOD1 NOD2 TNF
3 cellular response to lipopolysaccharide GO:0071222 9.84 NOD2 RELA TNF
4 inflammatory response GO:0006954 9.83 CCL20 IL18 NOD1 RELA TNF
5 activation of MAPK activity GO:0000187 9.82 NOD1 NOD2 TNF
6 response to organic substance GO:0010033 9.8 ANXA5 RELA TNF
7 positive regulation of JNK cascade GO:0046330 9.79 NOD1 NOD2 TNF
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 NOD1 NOD2 RELA TNF
9 cellular response to organic cyclic compound GO:0071407 9.76 IL18 NOD2 TNF
10 regulation of inflammatory response GO:0050727 9.75 NOD2 RELA TNF
11 immune response GO:0006955 9.73 CCL20 HLA-DPA1 HLA-G IL18 MICA TNF
12 cytokine-mediated signaling pathway GO:0019221 9.72 CCL20 IL11 IL18 RELA TNF
13 positive regulation of interleukin-6 production GO:0032755 9.7 NOD1 NOD2 TNF
14 JNK cascade GO:0007254 9.69 NOD1 NOD2 TNF
15 natural killer cell activation GO:0030101 9.67 IL18 MICA
16 positive regulation of interleukin-8 production GO:0032757 9.67 NOD2 TNF
17 interleukin-1-mediated signaling pathway GO:0070498 9.67 NOD1 NOD2 RELA
18 defense response GO:0006952 9.67 NOD1 NOD2 RELA TNF
19 negative regulation of myoblast differentiation GO:0045662 9.66 IL18 TNF
20 natural killer cell mediated cytotoxicity GO:0042267 9.65 IL18 MICA
21 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.65 NOD1 NOD2
22 positive regulation of stress-activated MAPK cascade GO:0032874 9.65 NOD1 NOD2
23 positive regulation of interleukin-17 production GO:0032740 9.64 IL18 NOD2
24 response to muramyl dipeptide GO:0032495 9.63 NOD2 RELA
25 positive regulation of interferon-gamma production GO:0032729 9.63 HLA-DPA1 IL18 TNF
26 positive regulation of interleukin-1 beta production GO:0032731 9.62 NOD1 NOD2
27 cellular response to muramyl dipeptide GO:0071225 9.61 NOD1 NOD2
28 detection of bacterium GO:0016045 9.61 NOD1 NOD2
29 cellular response to nicotine GO:0071316 9.59 RELA TNF
30 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.57 NOD2 RELA
31 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.56 NOD1 NOD2
32 cellular response to peptidoglycan GO:0071224 9.55 NOD2 RELA
33 defense response to bacterium GO:0042742 9.55 CCL20 MICA NOD1 NOD2 TNF
34 positive regulation of neuroinflammatory response GO:0150078 9.54 IL18 TNF
35 detection of biotic stimulus GO:0009595 9.4 NOD1 NOD2
36 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.35 IL18 NOD1 NOD2 RELA TNF
37 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.02 IL18 NOD1 NOD2 RELA TNF

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

# Name GO ID Score Top Affiliating Genes
1 peptidoglycan binding GO:0042834 9.16 NOD1 NOD2
2 CARD domain binding GO:0050700 8.96 NOD1 NOD2
3 cytokine activity GO:0005125 8.92 CCL20 IL11 IL18 TNF
4 protein binding GO:0005515 10.07 ANXA5 CCL20 HLA-G HOGA1 HSPA2 IL11

Sources for Inflammatory Bowel Disease 3

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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