Information on IBDIMDE

Basic details

Name: Inflammatory bowel disease, immunodeficiency, and encephalopathy | Acronym: IBDIMDE
Alt. names:

Gene: TGFB1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2018

Last updated on: 2023-02-28 16:41:18 by

OMIM: 618213

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

In Camurati-Engelmann disease, medical management (eg, corticosteroids and/or losartan) may be beneficial to help with many manifestations, including pain, gait disturbances, anemia, hepatosplenomegaly, and exercise intolerance; In Inflammatory bowel disease, immunodeficiency, and encephalopathy, individuals have been reported with recurrent infections and immunologic manifestations affecting multiple organ systems, and awareness may allow management related to these sequelae. Refs. PMIDs: 5503688; 4461085; 7298693; 9054935; 11062463; 10973241; 11810278; 21462384; 12493741; 15326622; 15894597; 20301335; 29483653

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

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 Bloody diarrheaarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Cerebral atrophyarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
3 Focal impaired awareness seizurearrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
4 Hypsarrhythmiaarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
5 Anoperineal fistulaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
6 Esophageal candidiasisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
7 Eosinophilic esophagitisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
8 Hypochromic anemiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
9 Increased IgE levelsarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
10 Increased IgG levelarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
11 Leukocytosisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
12 Myoclonic seizurearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
13 Pancolitisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
14 Perianal Abscessarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
15 Recurrent respiratory infectionsarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
16 Varicella zoster virus infectionarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
17 Spasticityarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
18 Thrombocytosisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)

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.