Information on FANCQ
Basic details
Name: Fanconi anemia, complementation group Q | Acronym: FANCQ
Alt. names:
Gene: ERCC4 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by
Description
In XP, skin lesions can be treated (and possibly prevented in some cases) with a variety of methods, depending on the specific type of lesion; Sun/UV exposure (and other agents, such as tobacco smoke) should be avoided; Periodic surveillance (primarily related to skin manifestations, as well as other sequelae) can be beneficial; In 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. Fanconi anemia can involve multiple congenital anomalies. Refs. PMIDs: 3834095; 3372781; 2696553; 8427828; 10447254; 17183314; 20301571; 23623386
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 | Bone marrow hypocellularity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Chromosome breakage |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Congenital onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Growth delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | short stature |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Absent thumb |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Anteriorly placed anus |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Biliary atresia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Esophageal atresia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Low-set ears |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 11 | Microcephaly |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 12 | Primum atrial septal defect |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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.