Information on DKCA5
Basic details
Name: Revesz syndrome | Acronym: DKCA5
Alt. names: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5
Gene: TINF2 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2008
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; Lung transplant may be indicated in individuals with advanced lung diease; HSCT may be indicated due to manifestations including leukemia and bone marrow failure (which may also be treated with androgen therapy), but the long-term efficacy may not be optimal; Awareness of infectious risk may allow prompt diagnosis and treatment of infections. Refs. PMIDs: 1404302; 18252230; 18669893; 20301779; 21199492
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 | Cerebellar hypoplasia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Exudative retinopathy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Global developmental delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Nail dystrophy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Oral leukoplakia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Short telomere length |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Aplastic anaemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Bone marrow hypocellularity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Broad-based gait |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Fine, reticulate skin pigmentation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Macrocytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Microcephaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Neutropenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Poor coordination |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Visual loss |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.