IBD19
MCID: INF077
MIFTS: 21

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 58 12 76
Inflammatory Bowel Disease 19 12 76 30 13 6 15 74
Ibd19 58 12 76
Bowel Disease, Inflammatory, Type 19 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0110890
OMIM 58 612278
MeSH 45 D015212
MedGen 43 C2677079
SNOMED-CT via HPO 70 24526004 302168000
UMLS 74 C2677079

Summaries for Inflammatory Bowel Disease 19

UniProtKB/Swiss-Prot : 76 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, is also known as inflammatory bowel disease 19. An important gene associated with Inflammatory Bowel Disease 19 is IRGM (Immunity Related GTPase M). Affiliated tissues include skin, colon and eye, 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.

Description from OMIM: 612278

Symptoms & Phenotypes for Inflammatory Bowel Disease 19

Human phenotypes related to Inflammatory Bowel Disease 19:

33
# Description HPO Frequency HPO Source Accession
1 inflammation of the large intestine 33 HP:0002037

Clinical features from OMIM:

612278

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 30 IRGM

Anatomical Context for Inflammatory Bowel Disease 19

MalaCards organs/tissues related to Inflammatory Bowel Disease 19:

42
Skin, Colon, Eye

Publications for Inflammatory Bowel Disease 19

Variations for Inflammatory Bowel Disease 19

ClinVar genetic disease variations for Inflammatory Bowel Disease 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRGM NM_001145805.1(IRGM): c.313C> T (p.Leu105=) single nucleotide variant Pathogenic rs10065172 GRCh37 Chromosome 5, 150227998: 150227998
2 IRGM NM_001145805.1(IRGM): c.313C> T (p.Leu105=) single nucleotide variant Pathogenic rs10065172 GRCh38 Chromosome 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

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.16 IRGM SNCA
2 positive regulation of protein serine/threonine kinase activity GO:0071902 8.96 IRGM SNCA
3 protein destabilization GO:0031648 8.62 IRGM SNCA

Sources for Inflammatory Bowel Disease 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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