Phenotypes associated with the disease pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 (OMIM:618674):
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Onset: Adult onset (HP:0003581). (PMID:31488579)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Onset: Adult onset (HP:0003581). (PMID:31488579)
- Short telomere length (HP:0031413): An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. Evidence: PCS. (PMID:31488579)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:31488579)