Information on IBD31
Basic details
Name: Inflammatory bowel disease 31 | Acronym: IBD31
Alt. names: Inflammatory bowel disease (infantile ulcerative colitis) 31
Gene: IL37 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by the presence of ulcers throughout the colon and rectum with normal-appearing ileum. Affected infants present with recurrent bloody diarrhea with anemia and leukocytosis, with extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum (Zhang et al., 2021).[OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bloody diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Elevated C-reactive protein |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | elevated ESR |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Leukocytosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Motor delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | ulcerative colitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.