Information on DKCA1
Basic details
Name: Dyskeratosis congenita, autosomal dominant 1 | Acronym: DKCA1
Alt. names: dyskeratosis congenita
Gene: TERC | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-05-17 17:25:50 by
Description
In dyskeratosis congenita, the presentation many not always be classic, and individuals are at high risk for hematologic anomalies (including bone marrow failure) and malignancy, and surveillance and prompt diagnosis and treatment may be beneficial; In Aplastic anemia, surveillance and prompt treatment of aplastic anemia and bone marrow failure may reduce morbidity; For treatment related to pulmonary fibrosis, immunotherapy may be beneficial, though lung transplantation may be indicated in individuals with severe/refractory disease. The presence of mutations has also been reported as increasing risk of malignancy, including melanoma. Refs. PMIDs: 11574891; 12090986; 14630445; 17392301; 18753630; 19760749; 21436073; 22341970; 20301779; 23348503
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 | Increased mean corpuscular volume |
11 (91.7%) | 0 (0.0%) | 1 (8.3%) |
| 2 | Reticular hyperpigmentation |
10 (83.3%) | 0 (0.0%) | 2 (16.7%) |
| 3 | Nail dystrophy |
8 (80.0%) | 0 (0.0%) | 2 (20.0%) |
| 4 | Leukopenia |
7 (58.3%) | 0 (0.0%) | 5 (41.7%) |
| 5 | Thrombocytopenia |
7 (58.3%) | 0 (0.0%) | 5 (41.7%) |
| 6 | Anemia |
6 (50.0%) | 0 (0.0%) | 6 (50.0%) |
| 7 | Oral leukoplakia |
4 (33.3%) | 0 (0.0%) | 8 (66.7%) |
| 8 | Premature graying of hair |
4 (33.3%) | 0 (0.0%) | 8 (66.7%) |
| 9 | Pulmonary fibrosis |
3 (25.0%) | 0 (0.0%) | 9 (75.0%) |
| 10 | cirrhosis |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 11 | Budd-Chiari syndrome |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 12 | Dyspnea |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 13 | Hepatic necrosis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 14 | Interstitial pneumonitis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
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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.