pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.
Definition from the Mondo Disease Ontology (MONDO:0014612), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased DLCOHPOHP:0045051
- 8 of 8 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 8 of 8 reported patients
- Reduced forced expiratory volume in one secondHPOHP:0032342
- 5 of 8 reported patients
- Premature graying of hairHPOHP:0002216
- Occasional (5% to 29% of cases)
- CoughHPOHP:0012735
- Honeycomb lungHPOHP:0025175
- Pulmonary fibrosisHPOHP:0002206
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PARNHGNC:8609
- Definitive · ClinGen · Semidominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
- Also called
- PARN pulmonary fibrosis and/or bone marrow failure, Telomere-relatedpulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARNpulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4