MCID: INF077
MIFTS: 21

Inflammatory Bowel Disease 19

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

Aliases & Classifications for Inflammatory Bowel Disease 19

MalaCards integrated aliases for Inflammatory Bowel Disease 19:

Name: Inflammatory Bowel Disease 19 57 12 75
Inflammatory Bowel Disease 19 12 75 29 13 6 15 73
Ibd19 57 12 75
Bowel Disease, Inflammatory, Type 19 40

Classifications:



External Ids:

OMIM 57 612278
Disease Ontology 12 DOID:0110890
MedGen 42 C2677079
MeSH 44 D015212
SNOMED-CT via HPO 69 24526004 302168000
UMLS 73 C2677079

Summaries for Inflammatory Bowel Disease 19

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

612278

Human phenotypes related to Inflammatory Bowel Disease 19:

32
# Description HPO Frequency HPO Source Accession
1 inflammation of the large intestine 32 HP:0002037

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:

41
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 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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