Name: Pulmonary fibrosis and/or bone marrow failure, telomere-related 2 | Acronym: PFBMFT2
Alt. names: Aplastic anemia, 1 | AA1

Gene: TERC | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2002

Last updated on: 2023-02-28 16:41:18 by

OMIM: 614743

Orphanet: -

MONDO: -

DOID: -

ClinGen:

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

Description of management option has not been reviewed yet.