pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
MONDO:0957294Mondo
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
4 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.
- Short telomere lengthHPOHP:0031413
- 5 of 5 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 3 of 5 reported patients
- LeukemiaHPOHP:0001909
- 2 of 7 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 1 of 5 reported patients
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.
- NOP10HGNC:14378
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023