IBD19
MCID: INF077
MIFTS: 28

Inflammatory Bowel Disease 19 (IBD19)

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

Aliases & Classifications for Inflammatory Bowel Disease 19

MalaCards integrated aliases for Inflammatory Bowel Disease 19:

Name: Inflammatory Bowel Disease 19 57 12 72
Inflammatory Bowel Disease 19 12 72 29 13 6 15 70
Ibd19 57 12 72
Bowel Disease, Inflammatory, Type 19 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110890
OMIM® 57 612278
OMIM Phenotypic Series 57 PS266600
MeSH 44 D015212
MedGen 41 C2677079
SNOMED-CT via HPO 68 24526004 302168000
UMLS 70 C2677079

Summaries for Inflammatory Bowel Disease 19

UniProtKB/Swiss-Prot : 72 Inflammatory bowel disease 19: 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 19, also known as inflammatory bowel disease 19, is related to uveoparotid fever and inflammatory bowel disease 15. An important gene associated with Inflammatory Bowel Disease 19 is IRGM (Immunity Related GTPase M). Affiliated tissues include colon, and related phenotype is inflammation of the large intestine.

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q33.1.

More information from OMIM: 612278 PS266600

Related Diseases for Inflammatory Bowel Disease 19

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 uveoparotid fever 10.1 NOD2 IRGM
2 inflammatory bowel disease 15 10.0 TNFSF15 NOD2
3 radial nerve lesion 10.0 TNFSF15 NOD2
4 ulnar nerve lesion 10.0 TNFSF15 NOD2
5 inflammatory bowel disease 1 9.9 TNFSF15 NOD2 IRGM
6 anorectal stricture 9.9 TNFSF15 NOD2 IRGM
7 inflammatory bowel disease 5 9.9 TNFSF15 NOD2 IRGM
8 leprosy 3 9.9 TNFSF15 NOD2 IRGM
9 testicular disease 9.8 TNFSF15 NOD2
10 ulcerative colitis 9.8 TNFSF15 NOD2 IRGM
11 crohn's disease 9.8 TNFSF15 NOD2 IRGM
12 cerebral arterial disease 9.7 MIRLET7E MIR125B1
13 inflammatory bowel disease 9.7 TNFSF15 NOD2 MIRLET7E IRGM
14 salmonellosis 9.6 NOD2 CALCOCO2
15 autoimmune disease of gastrointestinal tract 9.3 TNFSF15 NOD2 MIRLET7E MIR125B1 IRGM

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 19:



Diseases related to Inflammatory Bowel Disease   19

Symptoms & Phenotypes for Inflammatory Bowel Disease 19

Human phenotypes related to Inflammatory Bowel Disease 19:

31
# Description HPO Frequency HPO Source Accession
1 inflammation of the large intestine 31 HP:0002037

Clinical features from OMIM®:

612278 (Updated 20-May-2021)

Drugs & Therapeutics for Inflammatory Bowel Disease 19

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 19

Genetic Tests for Inflammatory Bowel Disease 19

Genetic tests related to Inflammatory Bowel Disease 19:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 19 29 IRGM

Anatomical Context for Inflammatory Bowel Disease 19

MalaCards organs/tissues related to Inflammatory Bowel Disease 19:

40
Colon

Publications for Inflammatory Bowel Disease 19

Articles related to Inflammatory Bowel Disease 19:

(show all 24)
# Title Authors PMID Year
1
A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease. 6 57
21278745 2011
2
Autophagy gene ATG16L1 but not IRGM is associated with Crohn's disease in Canadian children. 57 6
18985712 2009
3
Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. 57 6
19174780 2009
4
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. 6 57
17554261 2007
5
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. 57
20106866 2010
6
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. 57
20360734 2010
7
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. 57
19165925 2008
8
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 57
18587394 2008
9
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. 57
18438406 2008
10
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. 57
18438405 2008
11
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 57
17554300 2007
12
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 57
17435756 2007
13
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 57
17447842 2007
14
Prevalence of Mycobacterium avium subspecies paratuberculosis IS 900 DNA in biopsy tissues from patients with Crohn's disease: histopathological and molecular comparison with Johne's disease in Fars province of Iran. 61
30616527 2019
15
Willingness to Participate in Longitudinal Research Among People with Chronic Pain Who Take Medical Cannabis: A Cross-Sectional Survey. 61
29607410 2018
16
Colonic lesions in patients undergoing small bowel capsule endoscopy: incidence, diagnostic and therapeutic impact. 61
28593783 2017
17
Acral manifestations of Sweet syndrome (neutrophilic dermatosis of the hands). 61
27938816 2017
18
The Prevalence of Ostomy-related Complications 1 Year After Ostomy Surgery: A Prospective, Descriptive, Clinical Study. 61
27768579 2016
19
Efficacy and safety of thalidomide in children and young adults with intractable inflammatory bowel disease: long-term results. 61
17269997 2007
20
Metabolic bone disease is present at diagnosis in patients with inflammatory bowel disease. 61
12390098 2002
21
Helicobacter pylori-positive gastritis in pediatric patients with chronic inflammatory bowel disease. 61
9740199 1998
22
[Immunohistological study of T-lymphocytes (total and helper) and B-lymphocytes of the colonic mucosa in children with Crohn's disease and non-specific ulcerative colitis]. 61
10029869 1998
23
[State of the art of selective small bowel enema. Indications and results]. 61
8332728 1993
24
Platelet count, platelet function, coagulation activity and fibrinolysis in the acute phase of inflammatory bowel disease. 61
2258713 1990

Variations for Inflammatory Bowel Disease 19

ClinVar genetic disease variations for Inflammatory Bowel Disease 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRGM NM_001145805.1(IRGM):c.313C>T (p.Leu105=) SNV Pathogenic 30716 rs10065172 GRCh37: 5:150227998-150227998
GRCh38: 5:150848436-150848436

Expression for Inflammatory Bowel Disease 19

Search GEO for disease gene expression data for Inflammatory Bowel Disease 19.

Pathways for Inflammatory Bowel Disease 19

GO Terms for Inflammatory Bowel Disease 19

Cellular components related to Inflammatory Bowel Disease 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagosome membrane GO:0000421 8.62 IRGM CALCOCO2

Biological processes related to Inflammatory Bowel Disease 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of tumor necrosis factor production GO:0032720 9.32 NOD2 MIR125B1
2 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 9.26 MIRLET7E MIR125B1
3 negative regulation of STAT cascade GO:1904893 9.16 MIRLET7E MIR125B1
4 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 8.96 NOD2 IRGM
5 positive regulation of autophagosome maturation GO:1901098 8.62 IRGM CALCOCO2

Molecular functions related to Inflammatory Bowel Disease 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CARD domain binding GO:0050700 8.62 NOD2 IRGM

Sources for Inflammatory Bowel Disease 19

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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