IBD14
MCID: INF093
MIFTS: 34

Inflammatory Bowel Disease 14 (IBD14)

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

Aliases & Classifications for Inflammatory Bowel Disease 14

MalaCards integrated aliases for Inflammatory Bowel Disease 14:

Name: Inflammatory Bowel Disease 14 57 12 72 29 13 15 70
Ibd14 57 12 72
Inflammatory Bowel Disease 14, Susceptibility to 6
Bowel Disease, Inflammatory, Type 14 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110895
OMIM® 57 612245
OMIM Phenotypic Series 57 PS266600
MeSH 44 D015212
MedGen 41 C2677100
UMLS 70 C2677100

Summaries for Inflammatory Bowel Disease 14

UniProtKB/Swiss-Prot : 72 Inflammatory bowel disease 14: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

MalaCards based summary : Inflammatory Bowel Disease 14, also known as ibd14, is related to diffuse cutaneous systemic sclerosis and tibial nerve palsy. An important gene associated with Inflammatory Bowel Disease 14 is IRF5 (Interferon Regulatory Factor 5), and among its related pathways/superpathways are NF-kappaB Signaling and Apelin signaling pathway. Affiliated tissues include colon and neutrophil, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the IRF5 gene on chromosome 7q32.

More information from OMIM: 612245 PS266600

Related Diseases for Inflammatory Bowel Disease 14

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 30
Inflammatory Bowel Disease 28 Inflammatory Bowel Disease 25
Alpi-Related Inflammatory Bowel Disease Trim22-Related Inflammatory Bowel Disease
Rare Inflammatory Bowel Disease

Diseases related to Inflammatory Bowel Disease 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 10.2 IRF5 CCN2
2 tibial nerve palsy 10.1 THY1 NT5E
3 dental pulp necrosis 10.0 THY1 NT5E
4 dental pulp disease 10.0 THY1 NT5E
5 post-thrombotic syndrome 10.0 SERPINE1 ICAM1
6 coronary stenosis 10.0 SERPINE1 ICAM1 CXCR4
7 coronary restenosis 9.9 SPP1 FABP4
8 malignant giant cell tumor of soft parts 9.9 THY1 NT5E FABP4
9 crescentic glomerulonephritis 9.9 SERPINE1 ICAM1 CCN2
10 ureteral disease 9.9 SERPINE1 HAVCR1 CCN2
11 urinary tract obstruction 9.9 SERPINE1 HAVCR1 CCN2
12 microvascular complications of diabetes 5 9.8 SERPINE1 ICAM1 CCN2
13 atherosclerosis susceptibility 9.8 SERPINE1 ICAM1 FABP4
14 glomerulonephritis 9.8 SPP1 ICAM1 CCN2
15 ectodermal dysplasia 1, hypohidrotic, x-linked 9.8 THY1 SPP1 ICAM1
16 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8 THY1 SPP1 ICAM1
17 baritosis 9.8 TIMP1 SPP1
18 hydronephrosis 9.7 TIMP1 ICAM1 HAVCR1
19 idiopathic interstitial pneumonia 9.7 SERPINE1 ICAM1 CXCR4 CCN2
20 end stage renal disease 9.7 SPP1 ICAM1 HAVCR1
21 collagenous colitis 9.7 TIMP1 CCN2
22 chronic venous insufficiency 9.7 TIMP1 SERPINE1 ICAM1
23 venous insufficiency 9.7 TIMP1 SERPINE1 ICAM1
24 microvascular complications of diabetes 1 9.7 TIMP1 ICAM1 CCN2
25 brittle bone disorder 9.7 THY1 SPP1 NT5E
26 arterial calcification of infancy 9.6 SPP1 NT5E
27 pulmonary fibrosis 9.6 TIMP1 SERPINE1 CCN2
28 interstitial lung disease 9.6 TIMP1 SERPINE1 ICAM1
29 cerebrovascular disease 9.6 SPP1 SERPINE1 ICAM1
30 nephrogenic systemic fibrosis 9.6 TIMP1 SPP1 CCN2
31 biliary atresia 9.5 TIMP1 SPP1 CCN2
32 chronic kidney disease 9.4 SPP1 SERPINE1 ICAM1 HAVCR1 CCN2
33 aortic aneurysm, familial abdominal, 1 9.4 TIMP1 SPP1 SERPINE1 ICAM1
34 arteriosclerosis 9.3 TIMP1 SPP1 SERPINE1 ICAM1
35 vascular disease 9.3 TIMP1 SPP1 SERPINE1 ICAM1
36 non-alcoholic fatty liver disease 9.3 TIMP1 SPP1 SERPINE1 FABP4
37 cerebral palsy 9.2 TIMP1 SPP1 SERPINE1
38 myocardial infarction 9.2 TIMP1 SERPINE1 ICAM1 CXCR4 CCN2
39 heart disease 9.0 TIMP1 SERPINE1 ICAM1 HAVCR1 CXCR4 CCN2
40 systemic lupus erythematosus 8.9 TIMP1 SPP1 SERPINE1 IRF5 ICAM1 HAVCR1
41 type 2 diabetes mellitus 8.8 TIMP1 SPP1 SERPINE1 ICAM1 FABP4 CCN2
42 pulmonary fibrosis, idiopathic 8.7 TIMP1 THY1 SPP1 SERPINE1 ICAM1 CXCR4
43 diabetes mellitus 8.6 TIMP1 THY1 SPP1 SERPINE1 ICAM1 FABP4
44 hypertension, essential 8.6 TIMP1 STK24 SPP1 SERPINE1 ICAM1 HAVCR1

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 14:



Diseases related to Inflammatory Bowel Disease 14

Symptoms & Phenotypes for Inflammatory Bowel Disease 14

Clinical features from OMIM®:

612245 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Inflammatory Bowel Disease 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 CCN2 CXCR4 FABP4 ICAM1 IRF5 NT5E
2 cardiovascular system MP:0005385 9.92 CCN2 CXCR4 FABP4 ICAM1 NT5E SERPINE1
3 integument MP:0010771 9.7 CCN2 CXCR4 ICAM1 NT5E P3H3 SERPINE1
4 neoplasm MP:0002006 9.35 CXCR4 ICAM1 SERPINE1 SPP1 TIMP1
5 respiratory system MP:0005388 9.1 CCN2 CXCR4 SERPINE1 SPP1 THY1 TIMP1

Drugs & Therapeutics for Inflammatory Bowel Disease 14

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 14

Genetic Tests for Inflammatory Bowel Disease 14

Genetic tests related to Inflammatory Bowel Disease 14:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 14 29 IRF5

Anatomical Context for Inflammatory Bowel Disease 14

MalaCards organs/tissues related to Inflammatory Bowel Disease 14:

40
Colon, Neutrophil

Publications for Inflammatory Bowel Disease 14

Articles related to Inflammatory Bowel Disease 14:

(show all 12)
# Title Authors PMID Year
1
An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. 57 6
17881657 2007
2
Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus. 6
18063667 2008
3
Image guided sacroiliac joint corticosteroid injections in children: an 18-year single-center retrospective study. 61
32552835 2020
4
Health care as perceived by persons with inflammatory bowel disease - a focus group study. 61
28122403 2017
5
Young age of onset colorectal cancers. 61
26358068 2015
6
[Uro- and enterovaginal fistulas]. 61
17304267 2007
7
Colonoscopy in octogenarians and older patients. 61
11344425 2001
8
A national survey of practice patterns of gastroenterologists with comparison to the past two decades. 61
10599638 1999
9
[Articular and extraarticular involvement in inflammatory bowel diseases]. 61
8296515 1993
10
Anti-neutrophil antibodies in inflammatory bowel disease: prevalence and diagnostic role. 61
1612485 1992
11
[A decade of experience with home total parenteral nutrition]. 61
1800276 1991
12
Methotrexate induces clinical and histologic remission in patients with refractory inflammatory bowel disease. 61
2492786 1989

Variations for Inflammatory Bowel Disease 14

ClinVar genetic disease variations for Inflammatory Bowel Disease 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF5 IRF5, 5-BP INS, PROMOTER REGION Insertion risk factor 3395 GRCh37:
GRCh38:

Expression for Inflammatory Bowel Disease 14

Search GEO for disease gene expression data for Inflammatory Bowel Disease 14.

Pathways for Inflammatory Bowel Disease 14

GO Terms for Inflammatory Bowel Disease 14

Cellular components related to Inflammatory Bowel Disease 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.46 THY1 NT5E ICAM1 CXCR4
2 cell surface GO:0009986 9.35 THY1 NT5E ICAM1 HAVCR1 CXCR4
3 extracellular exosome GO:0070062 9.28 TIMP1 THY1 STK24 SPP1 SERPINE1 NT5E

Biological processes related to Inflammatory Bowel Disease 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endothelial cell apoptotic process GO:2000352 9.32 SERPINE1 ICAM1
2 response to amino acid GO:0043200 9.26 ICAM1 CCN2
3 leukocyte cell-cell adhesion GO:0007159 9.16 NT5E ICAM1
4 negative regulation of cell migration GO:0030336 9.13 THY1 STK24 SERPINE1
5 positive regulation of cellular extravasation GO:0002693 8.62 THY1 ICAM1

Molecular functions related to Inflammatory Bowel Disease 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.13 ICAM1 HAVCR1 CXCR4
2 integrin binding GO:0005178 8.92 THY1 SPP1 ICAM1 CCN2

Sources for Inflammatory Bowel Disease 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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