Information on FANCB
Basic details
Name: Fanconi anemia,complementation group B | Acronym: FANCB
Alt. names:
Gene: FANCB | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2004
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: 15502827; 16679491; 20301575; 21910217; 22052692
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 | Growth delay |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Ventriculomegaly |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Absent thumb |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 4 | Aplastic anaemia |
5 (50.0%) | 0 (0.0%) | 5 (50.0%) |
| 5 | Bilateral radial aplasia |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 6 | Thrombocytopenia |
5 (50.0%) | 0 (0.0%) | 5 (50.0%) |
| 7 | Hypogonadism |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Intrauterine growth retardation |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Abnormality of chromosome stability |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Childhood onset |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 11 | Low-set ears |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 12 | Renal agenesis |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 13 | Death in infancy |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 14 | Duodenal atresia |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 15 | Hydrocephalus |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 16 | Micropenis |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 17 | Optic disc hypoplasia |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 18 | Patent ductus arteriosus |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 19 | Short neck |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 20 | Cerebellar hypoplasia |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 21 | Coarctation of aorta |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 22 | Delayed CNS myelination |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 23 | Esophageal atresia |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 24 | Hypoplasia of the corpus callosum |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 25 | Infantile onset |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 26 | Intellectual disability |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 27 | Overfolded helix |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 28 | Single umbilical artery |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 29 | Tracheoesophageal fistula |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 30 | Ventricular septal defect |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
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.