Information on FANCU
Basic details
Name: Fanconi anemia, complementation group U | Acronym: FANCU
Alt. names:
Gene: XRCC2 | 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
Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. In individuals with Fanconi anemia, complementation group U, hematologic or oncologic manifestations have not been described. Refs. PMIDs: 22232082; 27208205
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 | Absent radius |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Absent scaphoid |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Absent thumb |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Aplasia of the 1st metacarpal |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Chromosome breakage |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Congenital onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Ectopic kidney |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Growth delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hypoplasia of the radius |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Microcephaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Patent ductus arteriosus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Unilateral facial palsy |
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.