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 TERT gene.
Features include always present findings: Dyspnea, Short telomere length, Aplastic anemia, and Lung scarring (pulmonary fibrosis); and very common findings: Crackles and Cough. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 5 | Obstructive sleep apnea, Dyspnea, Usual interstitial pneumonia |
Blood and immune system | 3 | Aplastic anemia, Low red blood cell count (anemia), Low blood cell counts (all types) (pancytopenia) |
Digestive system | 2 | Liver scarring (cirrhosis) (cirrhosis), Gastroesophageal reflux |
Bones and joints | 2 | Mild bone density loss (osteopenia), Bone marrow hypocellularity |
Arms and legs | 1 | Clubbing of fingers |
TERT function has not been fully characterized.
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 is associated with mutations in the TERT gene on chromosome 5.
Genetic testing for TERT is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 has been reported in the published literature.
Phenotype severity distribution: 4 always present features, 2 very common features, 3 common features.
No clinical trials have been registered for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1.
236 publications have been identified in PubMed for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1. Kisho has analyzed 177 by research type. Research spans Basic Science / Preclinical (51%), Review / Meta-Analysis (28%), and Gene Therapy / Novel Therapeutics (10%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 90 | 51% |
Research summaries | 50 | 28% |
New treatment approaches | 18 | 10% |
Testing and diagnosis research | 7 | 4% |
Disease patterns and progression | 6 | 3% |
Other research | 4 | 2% |
Patient case studies | 1 | 1% |
Clinical study results | 1 | 1% |
Zhang J (2026). [PMID: 42034183](https://pubmed.ncbi.nlm.nih.gov/42034183/). *Toxicology*. [Review / Meta-Analysis]
Hu E (2026). [PMID: 41763510](https://pubmed.ncbi.nlm.nih.gov/41763510/). *Chem Biol Interact*. [Basic Science / Preclinical]
Bajwa R (2026). [PMID: 41417118](https://pubmed.ncbi.nlm.nih.gov/41417118/). *Eur Radiol*. [Review / Meta-Analysis]
Dong J (2026). [PMID: 41797045](https://pubmed.ncbi.nlm.nih.gov/41797045/). *Redox Biol*. [Basic Science / Preclinical]
Lu S (2026). [PMID: 41789674](https://pubmed.ncbi.nlm.nih.gov/41789674/). *Int J Mol Med*. [Review / Meta-Analysis]
Molyneaux PL (2026). [PMID: 41881454](https://pubmed.ncbi.nlm.nih.gov/41881454/). *Eur Respir Rev*. [Review / Meta-Analysis]
Jiashu Z (2026). [PMID: 41932414](https://pubmed.ncbi.nlm.nih.gov/41932414/). *Cell Signal*. [Basic Science / Preclinical]
Betageri KR (2026). [PMID: 41086370](https://pubmed.ncbi.nlm.nih.gov/41086370/). *Am J Respir Cell Mol Biol*. [Gene Therapy / Novel Therapeutics]
Wan X (2026). [PMID: 41592393](https://pubmed.ncbi.nlm.nih.gov/41592393/). *Int Immunopharmacol*. [Basic Science / Preclinical]
Liu Z (2026). [PMID: 40759348](https://pubmed.ncbi.nlm.nih.gov/40759348/). *J Adv Res*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:20 PM UTC
Online Mendelian Inheritance in Man