Information on BMF1
Basic details
Name: Bone marrow failure syndrome 1 | Acronym: BMF1
Alt. names: bone marrow failure syndrome
Gene: SRP72 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-05-17 17:25:50 by
Description
Individuals have been described as having early-onset anemia/panyctopenia, as well as later myelodysplasia, and measures to detect and ameliorate hematologic findings may be beneficial; Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development. Refs. PMIDs: 22541560
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 | Bone marrow hypocellularity |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 2 | Sensorineural hearing impairment |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 3 | Myelodysplasia |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 4 | Pancytopenia |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 5 | Aplastic anaemia |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
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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.