Information on PFBMFT4

Basic details

Name: Pulmonary fibrosis and/or bone marrow failure, telomere-related 4 | Acronym: PFBMFT4
Alt. names:

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

No. of cases in DB: 0 | First reported in: 2015

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

OMIM: 616371

Orphanet: -

MONDO: -

DOID: -

ClinGen:

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. Refs. PMIDs: 25848748; 25893599; 26342108

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	Unreported
1	Decreased DLCO	8 (99.9%)	0 (0.0%)
2	Reduced forced vital capacity	8 (99.9%)	0 (0.0%)
3	Reduced forced expiratory volume in one second	5 (62.5%)	3 (37.5%)

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.