Features include always present findings: Short telomere length; and common findings: Lung scarring (pulmonary fibrosis). 4 total HPO annotations.

NOP10 encodes NOP10 ribonucleoprotein (64 aa). Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. Highest expression in Cells Cultured fibroblasts (349.7 TPM) and Cells EBV-transformed lymphocytes (344.0 TPM).

Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 has limited evidence linking it to mutations in the NOP10 gene on chromosome 15.

The NOP10 protein participates in Box H/ACA snoRNP and Biogenesis and assembly of the telomerase RNP pathways.

NOP10 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for NOP10 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

No clinical trials have been registered for pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9.

206 publications have been identified in PubMed for pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9. Research spans Basic Science / Preclinical (51%), Review / Meta-Analysis (29%), and Gene Therapy / Novel Therapeutics (11%).