Information on CHERUB
Basic details
Name: Cherubism | Acronym: CHERUB
Alt. names:
Gene: SH3BP2 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by
Description
Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. As bone lesions are typically self-limiting, surgical interventions treatment may not be necessary (with the exception of aggressive lesions resulting in severe functional issues, or for aesthetic reasons). Refs. PMIDs: 11381256; 17368082; 18596838; 19017279; 20301316; 21045962; 22153076; 22640988; 22640403; 22795151
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 | Jaw swelling |
20 (83.3%) | 0 (0.0%) | 4 (16.7%) |
| 2 | Round face |
19 (79.2%) | 0 (0.0%) | 5 (20.8%) |
| 3 | Juvenile onset |
17 (70.8%) | 0 (0.0%) | 7 (29.2%) |
| 4 | Submandibular lymph node enlargement |
10 (41.7%) | 0 (0.0%) | 14 (58.3%) |
| 5 | Childhood onset |
4 (16.7%) | 0 (0.0%) | 20 (83.3%) |
| 6 | Lower eyelid retraction |
3 (12.5%) | 0 (0.0%) | 21 (87.5%) |
| 7 | Young adult onset |
3 (12.5%) | 0 (0.0%) | 21 (87.5%) |
| 8 | Central giant cell lesion of the jaw |
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.