pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
MONDO:0030690Mondo
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 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
- Congenital onset · Middle age onset · Juvenile onset
HPO, annotations 2026-09-02
Features
13 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
- 4 of 4 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 3 of 4 reported patients
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 1 of 4 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 4 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 4 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 4 reported patients
- MyelodysplasiaHPOHP:0002863
- 1 of 4 reported patients
- Nail dystrophyHPOHP:0008404
- 1 of 4 reported patients
- Oral leukoplakiaHPOHP:0002745
- 1 of 4 reported patients
- PancytopeniaHPOHP:0001876
- 1 of 4 reported patients
- Premature graying of hairHPOHP:0002216
- 1 of 4 reported patients
- Restrictive ventilatory defectHPOHP:0002091
- 1 of 4 reported patients
Show the remaining 1
- Reticular hyperpigmentationHPOHP:0007588
- 1 of 4 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.
- RPA1HGNC:10289
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- Also called
- PFBMFT6