IBD10
MCID: INF067
MIFTS: 25

Inflammatory Bowel Disease 10 (IBD10)

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

Aliases & Classifications for Inflammatory Bowel Disease 10

MalaCards integrated aliases for Inflammatory Bowel Disease 10:

Name: Inflammatory Bowel Disease 10 56 12 73
Inflammatory Bowel Disease 10 12 73 29 13 15 71
Ibd10 56 12 73
Inflammatory Bowel Disease 10, Susceptibility to 6
Bowel Disease, Inflammatory, Type 10 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110885
OMIM 56 611081
OMIM Phenotypic Series 56 PS266600
MeSH 43 D015212
MedGen 41 C1970207
UMLS 71 C1970207

Summaries for Inflammatory Bowel Disease 10

UniProtKB/Swiss-Prot : 73 Inflammatory bowel disease 10: 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 10, also known as inflammatory bowel disease 10, is related to inflammatory bowel disease and ulcerative colitis. An important gene associated with Inflammatory Bowel Disease 10 is ATG16L1 (Autophagy Related 16 Like 1). Affiliated tissues include colon, eye and skin.

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the ATG16L1 gene on chromosome 2q37.

More information from OMIM: 611081 PS266600

Related Diseases for Inflammatory Bowel Disease 10

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 10:



Diseases related to Inflammatory Bowel Disease   10

Symptoms & Phenotypes for Inflammatory Bowel Disease 10

Clinical features from OMIM:

611081

Drugs & Therapeutics for Inflammatory Bowel Disease 10

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 10

Genetic Tests for Inflammatory Bowel Disease 10

Genetic tests related to Inflammatory Bowel Disease 10:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 10 29 ATG16L1

Anatomical Context for Inflammatory Bowel Disease 10

MalaCards organs/tissues related to Inflammatory Bowel Disease 10:

40
Colon, Eye, Skin, T Cells

Publications for Inflammatory Bowel Disease 10

Articles related to Inflammatory Bowel Disease 10:

(show all 30)
# Title Authors PMID Year
1
A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3. 56 6
24553140 2014
2
ATG16L1 T300A polymorphism and Crohn's disease susceptibility: evidence from 13,022 cases and 17,532 controls. 6 56
19337756 2009
3
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. 56 6
18438405 2008
4
Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant. 56 6
18852889 2008
5
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 56 6
17435756 2007
6
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. 56 6
17200669 2007
7
Paneth cells secrete lysozyme via secretory autophagy during bacterial infection of the intestine. 56
28751470 2017
8
The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1. 6
27273576 2016
9
Autophagy gene ATG16L1 but not IRGM is associated with Crohn's disease in Canadian children. 56
18985712 2009
10
A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells. 56
18849966 2008
11
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 56
18587394 2008
12
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 56
17554300 2007
13
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 56
17447842 2007
14
Evaluation of co-existing diseases in children with familial Mediterranean fever. 61
31352561 2019
15
Unexpectedly high incidences of chronic non-bacterial as compared to bacterial osteomyelitis in children. 61
27730289 2016
16
Comparison of the Multiattribute Utility Instruments EQ-5D and SF-6D in a Europe-Wide Population-Based Cohort of Patients with Inflammatory Bowel Disease 10 Years after Diagnosis. 61
27630711 2016
17
Novel specific microRNA biomarkers in idiopathic inflammatory bowel disease unrelated to disease activity. 61
24051693 2014
18
Dislocation of Rab13 and vasodilator-stimulated phosphoprotein in inactive colon epithelium in patients with Crohn's disease. 61
19885626 2009
19
Infliximab therapy for patients with inflammatory bowel disease: 10 years on. 61
19837056 2009
20
Dysplasia and cancer in inflammatory bowel disease 10 years after diagnosis: results of a population-based European collaborative follow-up study. 61
17598963 2007
21
The value of colonoscopy to assess rectal bleeding in patients referred from Primary Care Units. 61
16454606 2005
22
Is interferon-alpha therapy safe and effective for patients with chronic hepatitis C and inflammatory bowel disease? A case-control study. 61
16091058 2005
23
99mTc-HMPAO leucocyte scintigraphy fails to detect Crohn's disease in the proximal gastrointestinal tract. 61
11420197 2001
24
A pilot study of N-acetyl glucosamine, a nutritional substrate for glycosaminoglycan synthesis, in paediatric chronic inflammatory bowel disease. 61
11121904 2000
25
Breath alkanes determination in ulcerative colitis and Crohn's disease. 61
10211523 1999
26
Colonic disease associated with a positive assay for Clostridium difficile toxin: a retrospective study. 61
9412955 1997
27
Consequences of delayed ileostomy closure after ileal pouch-anal anastomosis. 61
1511648 1992
28
Major histocompatibility complex class II antigen (HLA-DR) expression by ileal epithelial cells in patients with seronegative spondylarthropathy. 61
2351304 1990
29
Loss of suppressor T-cells in active inflammatory bowel disease. 61
6234211 1984
30
Inflammatory bowel disease. 10 years experience at the hospital of the American University at Beirut. 61
4707976 1973

Variations for Inflammatory Bowel Disease 10

ClinVar genetic disease variations for Inflammatory Bowel Disease 10:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATG16L1 NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala)SNV Benign 1130 rs2241880 2:234183368-234183368 2:233274722-233274722

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease 10:

73
# Symbol AA change Variation ID SNP ID
1 ATG16L1 p.Thr300Ala VAR_021834 rs2241880

Expression for Inflammatory Bowel Disease 10

Search GEO for disease gene expression data for Inflammatory Bowel Disease 10.

Pathways for Inflammatory Bowel Disease 10

GO Terms for Inflammatory Bowel Disease 10

Sources for Inflammatory Bowel Disease 10

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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