pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
MONDO:0957261Mondo
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 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
- Middle age onset · Young adult 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.
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Premature graying of hairHPOHP:0002216
- 3 of 5 reported patients
- EmphysemaHPOHP:0002097
- 2 of 5 reported patients
- AnemiaHPOHP:0001903
- 1 of 5 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 5 reported patients
- MyelodysplasiaHPOHP:0002863
- 1 of 5 reported patients
- Nail dystrophyHPOHP:0008404
- 1 of 5 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 5 reported patients
- Portal hypertensionHPOHP:0001409
- 1 of 5 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 1 of 5 reported patients
- Squamous cell carcinoma of the skinHPOHP:0006739
- 1 of 5 reported patients
- ThrombocytopeniaHPOHP:0001873
- 1 of 5 reported patients
Show the remaining 1
- Type I diabetes mellitusHPOHP:0100651
- 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.
- NAF1HGNC:25126
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023