IBD10
MCID: INF067
MIFTS: 20

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 58 12 76
Inflammatory Bowel Disease 10 12 76 30 13 74
Ibd10 58 12 76
Inflammatory Bowel Disease 10, Susceptibility to 6
Bowel Disease, Inflammatory, Type 10 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0110885
OMIM 58 611081
MeSH 45 D015212
MedGen 43 C1970207
UMLS 74 C1970207

Summaries for Inflammatory Bowel Disease 10

UniProtKB/Swiss-Prot : 76 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, is also known as inflammatory bowel disease 10. An important gene associated with Inflammatory Bowel Disease 10 is ATG16L1 (Autophagy Related 16 Like 1). Affiliated tissues include skin, colon and eye.

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

Description from OMIM: 611081

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 30 ATG16L1

Anatomical Context for Inflammatory Bowel Disease 10

MalaCards organs/tissues related to Inflammatory Bowel Disease 10:

42
Skin, Colon, Eye, Bone

Publications for Inflammatory Bowel Disease 10

Articles related to Inflammatory Bowel Disease 10:

# Title Authors Year
1
The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1. ( 27273576 )
2016
2
A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3. ( 24553140 )
2014
3
ATG16L1 T300A polymorphism and Crohn's disease susceptibility: evidence from 13,022 cases and 17,532 controls. ( 19337756 )
2009
4
Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant. ( 18852889 )
2008
5
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. ( 18438405 )
2008
6
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. ( 17200669 )
2007
7
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. ( 17435756 )
2007

Variations for Inflammatory Bowel Disease 10

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

76
# Symbol AA change Variation ID SNP ID
1 ATG16L1 p.Thr300Ala VAR_021834 rs2241880

ClinVar genetic disease variations for Inflammatory Bowel Disease 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATG16L1 NM_030803.6(ATG16L1): c.898A> G (p.Thr300Ala) single nucleotide variant Benign rs2241880 GRCh37 Chromosome 2, 234183368: 234183368
2 ATG16L1 NM_030803.6(ATG16L1): c.898A> G (p.Thr300Ala) single nucleotide variant Benign rs2241880 GRCh38 Chromosome 2, 233274722: 233274722

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
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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