Information on PFBMFT1
Name: Pulmonary fibrosis and/or bone marrow failure, telomere-related 1 | Acronym: PFBMFT1
Alt. names: pulmonary fibrosis and/or bone marrow failure, telomere-related
Gene: TERT | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2005
Last updated on: 2023-05-17 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; HSCT may be effective; For treatment related to pulmonary fibrosis, immunotherapy may be beneficial, though lung transplantation may be indicated in individuals with severe/refractory disease. Refs. PMIDs: 16247010; 15814878; 16890917; 17392301; 17785587; 17460043; 18460650; 18042801; 19760749; 21602826; 20502709; 21436073; 22512499; 20301779
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Crackles |
59 (83.1%) | 0 (0.0%) | 12 (16.9%) |
| 2 | Dyspnea |
51 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Cough |
44 (86.3%) | 0 (0.0%) | 7 (13.7%) |
| 4 | Gastroesophageal reflux |
35 (26.1%) | 0 (0.0%) | 99 (73.9%) |
| 5 | Osteopenia |
35 (26.1%) | 0 (0.0%) | 99 (73.9%) |
| 6 | Usual interstitial pneumonia |
34 (59.7%) | 0 (0.0%) | 23 (40.4%) |
| 7 | Clubbing of fingers |
21 (41.2%) | 0 (0.0%) | 30 (58.8%) |
| 8 | Anemia |
18 (13.4%) | 0 (0.0%) | 116 (86.6%) |
| 9 | Short telomere length |
17 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Mediastinal lymphadenopathy |
15 (29.4%) | 0 (0.0%) | 36 (70.6%) |
| 11 | Obstructive sleep apnea |
11 (8.2%) | 0 (0.0%) | 123 (91.8%) |
| 12 | Premature graying of hair |
8 (40.0%) | 0 (0.0%) | 12 (60.0%) |
| 13 | Aplastic anaemia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Pulmonary fibrosis |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | cirrhosis |
3 (2.2%) | 0 (0.0%) | 131 (97.8%) |
| 16 | Pancytopenia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
Age of onset
distribution
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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.
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).