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Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.
Features include always present findings: Reduced forced vital capacity and Decreased DLCO; and common findings: Reduced forced expiratory volume in one second. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 2 | Honeycomb lung, Lung scarring (pulmonary fibrosis) |
PARN function has not been fully characterized.
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 is caused by mutations in the PARN gene on chromosome 16.
Genetic testing for PARN is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 1 common feature.
No clinical trials have been registered for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4.
249 publications have been identified in PubMed for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4. Research spans Basic Science / Preclinical (55%), Review / Meta-Analysis (30%), and Epidemiology / Natural History (4%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 138 | 55% |
Research summaries | 74 | 30% |
Disease patterns and progression | 11 | 4% |
New treatment approaches | 11 | 4% |
Testing and diagnosis research | 8 | 3% |
Patient case studies | 3 | 1% |
Other research | 2 | 1% |
Clinical study results | 2 | 1% |
Soni J (2026). [PMID: 41741124](https://pubmed.ncbi.nlm.nih.gov/41741124/). *BMJ case reports*. [Case Report / Case Series]
Habibovic A (2026). [PMID: 40986746](https://pubmed.ncbi.nlm.nih.gov/40986746/). *Am J Respir Cell Mol Biol*. [Basic Science / Preclinical]
Liu Z (2026). [PMID: 40759348](https://pubmed.ncbi.nlm.nih.gov/40759348/). *J Adv Res*. [Basic Science / Preclinical]
Zhang J (2026). [PMID: 42034183](https://pubmed.ncbi.nlm.nih.gov/42034183/). *Toxicology*. [Review / Meta-Analysis]
Jiashu Z (2026). [PMID: 41932414](https://pubmed.ncbi.nlm.nih.gov/41932414/). *Cell Signal*. [Basic Science / Preclinical]
Courtwright A (2026). [PMID: 42219160](https://pubmed.ncbi.nlm.nih.gov/42219160/). *Clin Genet*. [Review / Meta-Analysis]
Mao Z (2026). [PMID: 41553566](https://pubmed.ncbi.nlm.nih.gov/41553566/). *Apoptosis*. [Review / Meta-Analysis]
Betageri KR (2026). [PMID: 41086370](https://pubmed.ncbi.nlm.nih.gov/41086370/). *Am J Respir Cell Mol Biol*. [Gene Therapy / Novel Therapeutics]
Lei S (2026). [PMID: 41771338](https://pubmed.ncbi.nlm.nih.gov/41771338/). *Eur J Pharmacol*. [Basic Science / Preclinical]
Zang N (2026). [PMID: 41755466](https://pubmed.ncbi.nlm.nih.gov/41755466/). *Rev Med Virol*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC
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