Disease - Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9
- DefinitionAn autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT9 is characterized by the development of pulmonary fibrosis or hematologic abnormalities in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation.
- AcronymPFBMFT9
- Alternative names
- Cross references
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Browse 1 entry- H/ACA ribonucleoprotein complex subunit 3 · Gene: NOP10 (NOLA3) · Homo sapiens (Human) · 64 amino acids · Evidence at protein level · Annotation score: 5/5