pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
MONDO:0032865Mondo
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Bone marrow hypocellularityHPOHP:0005528
- Adult onset
- Pulmonary fibrosisHPOHP:0002206
- Adult onset
- Short telomere lengthHPOHP:0031413
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.
- ZCCHC8HGNC:25265
- Moderate · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
Other names
1 name
Resolves to: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- Also called
- ZCCHC8-related telomere biology disorder