MCID: INF086
MIFTS: 33

Inflammatory Bowel Disease 3

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Bone diseases, Blood diseases, Immune 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 inflammatory bowel disease and inflammatory bowel disease 2. 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. 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 28 Inflammatory Bowel Disease 25

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 24.7 CCL20 HLA-DPA1 IBD3 IL11 IL18 NOD1
2 inflammatory bowel disease 2 10.7 HOGA1 NOD2
3 lymphoproliferative syndrome, x-linked, 2 10.6 NOD1 NOD2
4 granulomatous dermatitis 10.5 NOD2 TNF
5 ileocolitis 10.5 NOD2 TNF
6 beryllium disease 10.5 HLA-DPA1 TNF
7 chronic beryllium disease 10.4 HLA-DPA1 TNF
8 inflammatory bowel disease 1 10.4 HOGA1 NOD1 NOD2
9 inflammatory bowel disease 4 10.4 HOGA1 NOD2 NPL
10 crohn's colitis 10.4 NOD2 TNF
11 ocular toxoplasmosis 10.3 MICA NOD2
12 blau syndrome 10.2 NOD1 NOD2 TNF
13 orofacial granulomatosis 10.2 NOD2 TNF
14 streptococcal meningitis 10.0 NOD2 TNF
15 spondylitis 9.9 MICA NOD2 TNF
16 sapho syndrome 9.9 IL18 NOD2
17 systemic onset juvenile idiopathic arthritis 9.9 IL18 TNF
18 psoriatic arthritis 9.8 MICA NOD2 TNF
19 acute graft versus host disease 9.6 IL18 NOD2 TNF
20 stachybotrys chartarum 9.6 IL18 TNF
21 lymphadenitis 9.6 IL18 NOD2 TNF
22 sarcoidosis 1 9.6 IL18 NOD2 TNF
23 celiac disease 1 9.5 HLA-DPA1 HLA-G MICA TNF
24 stromal keratitis 9.5 CCL20 TNF
25 t-cell large granular lymphocyte leukemia 9.4 IL18 MICA
26 listeria meningitis 9.3 CCL20 IL18 TNF
27 dermatitis, atopic 9.0 CCL20 IL18 TNF
28 behcet syndrome 9.0 IL18 MICA NOD2 TNF
29 inflammatory bowel disease 9 8.6 CCL20 IL11 IL18 NOD1 NOD2
30 psoriasis 8.5 CCL20 IL18 MICA TNF
31 asthma 8.5 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:
regional enteritis
ulcerative colitis
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

Publications for Inflammatory Bowel Disease 3

Articles related to Inflammatory Bowel Disease 3:

# Title Authors Year
1
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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 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
12.49 HLA-G IL11 IL18 TNF
7
Show member pathways
12.43 HLA-G MICA RELA TNF
8 12.29 HLA-DPA1 HLA-G RELA TNF
9
Show member pathways
12.25 HLA-DPA1 IL18 NOD2 RELA TNF
10 12.15 HLA-DPA1 HLA-G HSPA2 RELA
11
Show member pathways
12.11 HLA-DPA1 HSPA2 RELA TNF
12
Show member pathways
12.05 IL18 RELA TNF
13
Show member pathways
12.03 CCL20 IL11 RELA TNF
14 12.02 HLA-DPA1 IL18 NOD2 RELA TNF
15 11.83 CCL20 NOD2 RELA TNF
16 11.77 HLA-DPA1 IL11 TNF
17 11.65 NOD1 RELA TNF
18 11.56 NOD1 NOD2 RELA
19 11.39 CCL20 IL18 TNF
20 11.36 HSPA2 IL18 RELA TNF
21 11.13 RELA TNF
22 11.11 IL11 TNF
23 11.07 IL18 NOD1 NOD2 RELA
24 11.03 CCL20 RELA TNF
25 10.99 NOD2 RELA TNF
26 10.98 CCL20 HLA-DPA1 IL11 IL18 TNF
27 10.97 IL18 TNF
28 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
2 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DPA1 HLA-G

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.98 CCL20 HLA-DPA1 IL18 TNF
2 regulation of signaling receptor activity GO:0010469 9.97 CCL20 IL11 IL18 TNF
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 CCL20 NOD1 NOD2 TNF
4 cellular response to lipopolysaccharide GO:0071222 9.83 CCL20 RELA TNF
5 activation of MAPK activity GO:0000187 9.82 NOD1 NOD2 TNF
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.81 NOD1 NOD2 RELA TNF
7 interleukin-1-mediated signaling pathway GO:0070498 9.8 NOD1 NOD2 RELA
8 cellular response to organic cyclic compound GO:0071407 9.78 IL18 NOD2 TNF
9 positive regulation of JNK cascade GO:0046330 9.77 NOD1 NOD2 TNF
10 cytokine-mediated signaling pathway GO:0019221 9.77 CCL20 IL11 IL18 RELA TNF
11 defense response GO:0006952 9.76 NOD1 NOD2 RELA TNF
12 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 NOD1 NOD2 RELA TNF
13 JNK cascade GO:0007254 9.71 NOD1 NOD2 TNF
14 positive regulation of interleukin-6 production GO:0032755 9.7 NOD1 NOD2 TNF
15 positive regulation of interleukin-8 production GO:0032757 9.67 NOD2 TNF
16 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.67 NOD1 NOD2
17 positive regulation of interferon-gamma production GO:0032729 9.67 HLA-DPA1 IL18 TNF
18 negative regulation of myoblast differentiation GO:0045662 9.66 IL18 TNF
19 natural killer cell mediated cytotoxicity GO:0042267 9.66 IL18 MICA
20 positive regulation of stress-activated MAPK cascade GO:0032874 9.65 NOD1 NOD2
21 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.64 CCL20 NOD2
22 positive regulation of interleukin-17 production GO:0032740 9.64 IL18 NOD2
23 response to muramyl dipeptide GO:0032495 9.63 NOD2 RELA
24 cellular response to lipoteichoic acid GO:0071223 9.62 CCL20 RELA
25 positive regulation of interleukin-1 beta production GO:0032731 9.62 NOD1 NOD2
26 detection of bacterium GO:0016045 9.61 NOD1 NOD2
27 cellular response to nicotine GO:0071316 9.6 RELA TNF
28 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.58 NOD1 NOD2
29 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.58 NOD1 NOD2 TNF
30 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.57 NOD2 RELA
31 cellular response to peptidoglycan GO:0071224 9.56 NOD2 RELA
32 regulation of inflammatory response GO:0050727 9.56 NOD1 NOD2 RELA TNF
33 cellular response to muramyl dipeptide GO:0071225 9.55 NOD1 NOD2
34 defense response to bacterium GO:0042742 9.55 CCL20 MICA NOD1 NOD2 TNF
35 negative regulation of immune response GO:0050777 9.5 HLA-G NOD1 NOD2
36 detection of biotic stimulus GO:0009595 9.48 NOD1 NOD2
37 inflammatory response GO:0006954 9.43 CCL20 IL18 NOD1 NOD2 RELA TNF
38 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

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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