pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 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 RTEL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014613), 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
6 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
- 7 of 7 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 10 of 11 reported patients
- Reduced forced expiratory volume in one secondHPOHP:0032342
- 9 of 11 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 15 of 20 reported patients
- Short telomere lengthHPOHP:0031413
- Usual interstitial pneumoniaHPOHP:0031950
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.
- RTEL1HGNC:15888
- Definitive · ClinGen · Semidominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
- Also called
- pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related