INFLAMMATORY BOWEL DISEASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED
IBD1 REGIONAL ENTERITIS, INCLUDED
ULCERATIVE COLITIS, INCLUDED
CROHN DISEASE, INCLUDED
Number of Symptoms 12
OrphanetNr:
OMIM Id: 266600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Heterogeneous
Multifactorial
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
2
(HPO:0002027) Abdominal pain 184 / 7739
3
(HPO:0100279) Ulcerative colitis 5 / 7739
4
(HPO:0005214) Intestinal obstruction 35 / 7739
5
(HPO:0002014) Diarrhea 225 / 7739
6
(HPO:0001824) Weight loss 42 / 7739
7
(HPO:0001510) Growth delay 295 / 7739
8
(HPO:0001425) Heterogeneous 132 / 7739
9
(OMIM) Transmural granulomatous inflammation with 'skip lesions' 1 / 7739
10
(MedDRA:10016717) Fistula 1 / 7739
11
(HPO:0001426) Multifactorial inheritance 37 / 7739
12
(OMIM) Strictures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Inflammatory bowel disease is characterized by a chronic relapsing intestinal inflammation. IBD is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease and ulcerative colitis have a combined prevalence of 200 to 300 per 100,000 in the ...
Molecular genetics OMIM

- Association with NOD2/CARD15 on Chromosome 16q12

Using a positional cloning strategy based on linkage analysis followed by linkage disequilibrium mapping, Hugot et al. (2001) identified 3 independent mutations in the NOD2 gene that ...