Information on FANCV
Basic details
Name: Fanconi anemia, complementation group V | Acronym: FANCV
Alt. names:
Gene: MAD2L2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
Specific treatments can help manifestations (eg, oral androgens for blood counts; G-CSF for neutrophil count); Individuals may be at risk for certain types of cancer, and awareness may allow early diagnosis and management; Surveillance for complications such as bone marrow failure is recommended. Refs. PMIDs: 27500492
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 |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bone marrow hypocellularity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Chromosomal breakage induced by crosslinking agents |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Elevated alpha-fetoprotein |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Microcephaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Neutropenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | short stature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Thrombocytopenia |
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.