Information on BMFS5
Basic details
Name: Bone marrow failure syndrome 5 | Acronym: BMFS5
Alt. names:
Gene: TP53 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 16:41:18 by
Description
For individuals with cancer predisposition, though the optimal course is unclear, surveillance (including breast cancer and colorectal cancer screening starting no later than age 25) and awareness of the increased risk of malignancy could potentially be beneficial in order to allow early diagnosis and treatment; Mastectomy is preferred to lumpectomy in individuals with breast cancer, and may be a prophylactic option; Radiation therapy should be avoided due to the risk of radiation-induced malignancies; For Bone Marrow failure syndrome, individuals have been described as requiring interventions such as blood transfusions and IgG replacement, and awareness may allow prompt management. Variants may also be involved in susceptibility to a number of types of neoplasms (eg, Basal cell carcinoma, susceptibility to, Glioma, susceptibility to). Refs. PMIDs: 6016796; 3409256; 1978757; 1679237; 1591732; 1349175; 1565144; 1565143; 8118819; 8718514; 7887414; 9242456; 10612830; 11332399; 11498785; 11600572; 11219776; 11481490; 12085209; 12610779; 12524418; 12619118; 14583457; 12619118; 15381368; 15695383; 15977174; 15741269; 18762572; 19171829; 19556618; 19652052; 20301488; 21056402; 21601526; 21837677; 21946351; 21990040; 22170717; 22551548; 22672556; 22878818; 22939227; 23015295; 23175693; 23355100; 23409989; 23667851; 23894400; 30146126
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 | Anemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hypogammaglobulinemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Erythroid hypoplasia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Global developmental delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Growth delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Intellectual disability |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Microcephaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Pure red cell aplasia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Reticular hyperpigmentation |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | short stature |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Short telomere length |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Grand mal seizures |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Delayed skeletal maturation |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Hypogonadism |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Infantile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 16 | Neonatal onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Testicular atrophy |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 18 | Nail dystrophy |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 19 | Oral leukoplakia |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 20 | Pulmonary fibrosis |
0 (0.0%) | 0 (0.0%) | 2 (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.