IBD13
MCID: INF068
MIFTS: 24

Inflammatory Bowel Disease 13 (IBD13)

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

Aliases & Classifications for Inflammatory Bowel Disease 13

MalaCards integrated aliases for Inflammatory Bowel Disease 13:

Name: Inflammatory Bowel Disease 13 56 12 73 29 13 6 15 71
Ibd13 56 12 73
Bowel Disease, Inflammatory, Type 13 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110893
OMIM 56 612244
OMIM Phenotypic Series 56 PS266600
MeSH 43 D015212
MedGen 41 C2677101
SNOMED-CT via HPO 68 24526004 302168000
UMLS 71 C2677101

Summaries for Inflammatory Bowel Disease 13

UniProtKB/Swiss-Prot : 73 Inflammatory bowel disease 13: 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 13, is also known as ibd13. An important gene associated with Inflammatory Bowel Disease 13 is ABCB1 (ATP Binding Cassette Subfamily B Member 1). Affiliated tissues include colon, eye and skin, and related phenotype is inflammation of the large intestine.

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the ABCB1 gene on chromosome 7q21.1.

More information from OMIM: 612244 PS266600

Symptoms & Phenotypes for Inflammatory Bowel Disease 13

Human phenotypes related to Inflammatory Bowel Disease 13:

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

Clinical features from OMIM:

612244

Drugs & Therapeutics for Inflammatory Bowel Disease 13

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Predictors of Subclinical Atherosclerotic Cardiovascular Diseases (ASCVD) in Patients With Inflammatory Bowel Disease Not yet recruiting NCT03868332

Search NIH Clinical Center for Inflammatory Bowel Disease 13

Genetic Tests for Inflammatory Bowel Disease 13

Genetic tests related to Inflammatory Bowel Disease 13:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 13 29 ABCB1

Anatomical Context for Inflammatory Bowel Disease 13

MalaCards organs/tissues related to Inflammatory Bowel Disease 13:

40
Colon, Eye, Skin

Publications for Inflammatory Bowel Disease 13

Articles related to Inflammatory Bowel Disease 13:

# Title Authors PMID Year
1
MDR1 Ala893 polymorphism is associated with inflammatory bowel disease. 56 6
14610718 2003
2
ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach. 56
16434479 2006
3
Identification of functionally variant MDR1 alleles among European Americans and African Americans. 56
11503014 2001
4
A novel model of inflammatory bowel disease: mice deficient for the multiple drug resistance gene, mdr1a, spontaneously develop colitis. 56
9820555 1998
5
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1. 56
9636179 1998
6
Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. 56
8841195 1996
7
Towards optimizing perioperative colorectal care: outcomes for 1,000 consecutive laparoscopic colon procedures using enhanced recovery pathways. 61
22264739 2012
8
Acute abdominal pain: diagnostic impact of immediate CT scanning. 61
17896131 2007
9
Performance of antinuclear antibody connective tissue disease screen. 61
17785321 2007
10
Erythema nodosum in Israeli children. 61
10804940 2000

Variations for Inflammatory Bowel Disease 13

ClinVar genetic disease variations for Inflammatory Bowel Disease 13:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCB1 NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala)SNV drug response 166622 rs2032582 7:87160618-87160618 7:87531302-87531302

Expression for Inflammatory Bowel Disease 13

Search GEO for disease gene expression data for Inflammatory Bowel Disease 13.

Pathways for Inflammatory Bowel Disease 13

GO Terms for Inflammatory Bowel Disease 13

Cellular components related to Inflammatory Bowel Disease 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 VWA2 MMP27 HAPLN3

Molecular functions related to Inflammatory Bowel Disease 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 8.96 MMP27 ADAM30
2 metalloendopeptidase activity GO:0004222 8.62 MMP27 ADAM30

Sources for Inflammatory Bowel Disease 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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