pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 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 TERT gene.
Definition from the Mondo Disease Ontology (MONDO:0013878), 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
21 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.
- Aplastic anemiaHPOHP:0001915
- 7 of 7 reported patients
- DyspneaHPOHP:0002094
- 51 of 51 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 53 of 134 reported patients · Adult onset
- 5 of 5 reported patients
- Short telomere lengthHPOHP:0031413
- 17 of 17 reported patients
- CoughHPOHP:0012735
- 44 of 51 reported patients
- CracklesHPOHP:0030830
- 59 of 71 reported patients
- Usual interstitial pneumonia
Show the remaining 9
- PancytopeniaHPOHP:0001876
- 1 of 5 reported patients
- AnemiaHPOHP:0001903
- 18 of 134 reported patients
- Obstructive sleep apneaHPOHP:0002870
- 11 of 134 reported patients
- CirrhosisHPOHP:0001394
- 3 of 134 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- Decreased DLCOHPOHP:0045051
- MyelodysplasiaHPOHP:0002863
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.
- TERTHGNC:11730
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Also called
- pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERTpulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related