Information on FANCO
Basic details
Name: Fanconi anemia goup O | Acronym: FANCO
Alt. names:
Gene: RAD51C | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2010
Last updated on: 2023-02-28 16:41:18 by
Description
In Breast-ovarian cancer susceptibility, surveillance (similar to that indicated in individuals with BRCA1 or BRCA2 mutations) may allow early detection and treatment of tumors, which may reduce morbidity and mortality; For Fanconia anemia, specific treatments can help manifestations (eg, oral androgens for blood counts; G-CSF for neutrophil count); HSCT can be curative, but solid tumor risk may remain; surveillance for complications such as bone marrow failure is recommended. The condition may include multiple congenital anomalies. Refs. PMIDs: 20400964; 20400963; 21568838; 20301575
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 | Congenital onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Anal atresia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Chromosome breakage |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Absent thumb |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 5 | Cryptorchidism |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Death in infancy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 7 | External genital hypoplasia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 8 | Hydronephrosis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Hypoplasia of the radius |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 10 | Spontaneous abortion |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 11 | Neonatal death |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 12 | Proximal placement of thumb |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 13 | Rectal atresia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Renal cyst |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 15 | short stature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Short thumb |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Small thenar eminence |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 18 | Stage 5 chronic kidney disease |
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.