Information on BMFS2
Basic details
Name: Bone marrow failure syndrome 2 | Acronym: BMFS2
Alt. names: Hebo deficiency
Gene: ERCC6L2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described with tri-lineage bone marrow failure, and awareness may allow prompt recognition and management related to hematologic (eg, anemia) and infectious sequelae. Refs. PMIDs: 24507776
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 | Anemia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bone marrow hypocellularity |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Leukopenia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Thrombocytopenia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Juvenile onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Microcephaly |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 7 | Early young adult onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 8 | Neonatal hypotonia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Cutaneous photosensitivity |
0 (0.0%) | 0 (0.0%) | 3 (99.9%) |
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.