Information on DKCA6
Basic details
Name: Dyskeratosis congenita, autosomal dominant 6 | Acronym: DKCA6
Alt. names:
Gene: ACD | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
Surveillance (eg, with regularly performed CBC as well as other measures in the presence of concern for hematologic sequelae) for bone marrow failure, as well as surveillance for multiple cancer types (eg, with self-examination and clinical examination), and pulmonary disease may allow early detection and treatment; HSCT may be indicated due to manifestations including leukemia and bone marrow failure; Awareness of infectious risk may allow prompt diagnosis and treatment of infections. Refs. PMIDs: 25205116; 25233904
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 | Adult onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Short telomere length |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Aplastic anaemia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | Bone marrow hypocellularity |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
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.