Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.
Features include always present findings: Decreased DLCO; and very common findings: Reduced forced vital capacity and Reduced forced expiratory volume in one second. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 2 | Usual interstitial pneumonia, Lung scarring (pulmonary fibrosis) |
RTEL1 function has not been fully characterized.
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 is caused by mutations in the RTEL1 gene on chromosome 20.
Genetic testing for RTEL1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.
No clinical trials have been registered for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3.
245 publications have been identified in PubMed for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3. Research spans Basic Science / Preclinical (53%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (5%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 131 | 53% |
Research summaries | 70 | 29% |
Disease patterns and progression | 13 | 5% |
New treatment approaches | 11 | 4% |
Testing and diagnosis research | 8 | 3% |
Patient case studies | 5 | 2% |
Clinical study results | 5 | 2% |
Other research | 2 | 1% |
Molyneaux PL (2026). [PMID: 41881454](https://pubmed.ncbi.nlm.nih.gov/41881454/). *Eur Respir Rev*. [Review / Meta-Analysis]
de Tocqueville S (2026). [PMID: 42034527](https://pubmed.ncbi.nlm.nih.gov/42034527/). *Semin Hematol*. [Basic Science / Preclinical]
Soni J (2026). [PMID: 41741124](https://pubmed.ncbi.nlm.nih.gov/41741124/). *BMJ Case Rep*. [Case Report / Case Series]
Liu S (2026). [PMID: 40845949](https://pubmed.ncbi.nlm.nih.gov/40845949/). *J Nutr Biochem*. [Gene Therapy / Novel Therapeutics]
Wedge E (2026). [PMID: 41332233](https://pubmed.ncbi.nlm.nih.gov/41332233/). *Am J Med Genet A*. [Case Report / Case Series]
Li Z (2026). [PMID: 41617009](https://pubmed.ncbi.nlm.nih.gov/41617009/). *Int J Biol Macromol*. [Basic Science / Preclinical]
Fu YY (2026). [PMID: 40888041](https://pubmed.ncbi.nlm.nih.gov/40888041/). *J Appl Toxicol*. [Review / Meta-Analysis]
Zhang Y (2026). [PMID: 41688427](https://pubmed.ncbi.nlm.nih.gov/41688427/). *Nat Commun*. [Gene Therapy / Novel Therapeutics]
Habibovic A (2026). [PMID: 40986746](https://pubmed.ncbi.nlm.nih.gov/40986746/). *Am J Respir Cell Mol Biol*. [Basic Science / Preclinical]
Peng F (2026). [PMID: 41519994](https://pubmed.ncbi.nlm.nih.gov/41519994/). *Nat Commun*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center