Information on FANCC
Basic details
Name: Fanconi anemia, complementation group C | Acronym: FANCC
Alt. names:
Gene: FANCC | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1992
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); HSCT can be curative, but solid tumor risk may remain; Surveillance for complications such as bone marrow failure is recommended. Individuals with FA may manifest a variety of congenital malformations, and awareness may allow prompt detection and management. Refs. PMIDs: 1574115; 9272737; 10431244; 20301575; 22160080; 22701786; 23028338
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 | Neutropenia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Thrombocytopenia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Chromosomal breakage induced by crosslinking agents |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Anemia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Cafe-au-lait spot |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Congenital onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Pancytopenia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | short stature |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 9 | Absent thumb |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | Bone marrow hypocellularity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Intrauterine growth retardation |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Absent radius |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 13 | Anterior wedging of T12 |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Epicanthus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Flexion contracture |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Hyperpigmentation of the skin |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Hypopigmented macule |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Triangular face |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Ventricular septal defect |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Duplication of thumb phalanx |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 22 | Leukemia |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 23 | Short thumb |
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.