Information on FANCN
Name: Fanconi anemia, complementation group N | Acronym: FANCN
Alt. names:
Gene: PALB2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-02-28 by
Description
For Fanconi 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; For pancreatic and breast cancer, surveillance and early treatment may be beneficial. The condition may include multiple congenital anomalies. Refs. PMIDs: 17200668; 17287723; 17200671; 17200672; 19264984; 20858716; 22241545; 20301575; 23448497; 25099575
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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Microcephaly |
16 (88.9%) | 0 (0.0%) | 2 (11.1%) |
| 2 | Aplastic anaemia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Cafe-au-lait spot |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Epicanthus |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Hypertelorism |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Short neck |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Postnatal growth retardation |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Medulloblastoma |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 9 | Microphthalmia |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 10 | Nephroblastoma |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 11 | Short thumb |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 12 | Acute myeloid leukemia |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 13 | Anal atresia |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 14 | Chromosomal breakage induced by crosslinking agents |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Hypoplasia of the radius |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 16 | Absent thumb |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Atrial septal defect |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 18 | Congenital onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Ectopic kidney |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Horseshoe kidney |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 21 | Hyperpigmentation of the skin |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 22 | Neuroblastoma |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 23 | Pelvic kidney |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 24 | Small for gestational age |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | Unilateral renal agenesis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 26 | Ventricular septal defect |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
Age of onset
distribution
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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.
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).