Information on FILSS
Basic details
Name: FILS syndrome | Acronym: FILSS
Alt. names: Polymerase epsilon subunit 1 deficiency
Gene: POLE | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
In Colorectal cancer, susceptibility to, described individuals manifest edwith colorectal adenomas, with a high risk of colorectal carcinoma, and screening (eg, with colonoscopy) may allow early detection and treatment, potentially ameliorating morbidity and mortality; Other neoplasms have been described in affected individuals, and knowledge of the increased risk may allow early detection and treatment; In FILS syndrome and IMAGEI, individuals may have immunodeficiency, and prophylactic measures and awareness of the risk of infections may allow early and aggressive treatment of infectious manifestations; In IMAGEI, the condition may include adrenal insufficiency, and awareness may allow medical management of the condition. In Colorectal cancer, susceptibility to, individuals have been described such that mutations would warrant surveillance in the pediatric period. Refs. PMIDs: 14760276; 16835919; 23230001; 23263490; 24501277; 25370038; 30503519
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 | Decreased IgM levels |
14 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Immunodeficiency |
12 (85.7%) | 0 (0.0%) | 2 (14.3%) |
| 3 | short stature |
12 (92.3%) | 0 (0.0%) | 1 (7.7%) |
| 4 | Broad forehead |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 5 | Malar flattening |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 6 | Recurrent lower respiratory tract infections |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 7 | Recurrent upper respiratory tract infection |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 8 | Telangiectases of the cheeks |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 9 | Livedo |
10 (71.4%) | 0 (0.0%) | 4 (28.6%) |
| 10 | Bone pain |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 11 | Bronchiectasis |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 12 | Metaphyseal striations |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
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.