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GTR Home > Conditions/Phenotypes > Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8

Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8

Summary

Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-8 (PFBMFT8) is an autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Some affected individuals have signs of bone marrow failure, such as thrombocytopenia, or liver dysfunction, including hepatopulmonary syndrome. Other features of dyskeratosis congenita, including premature graying of the hair, may be observed. Telomeres are shortened compared to controls (Kelich et al., 2022). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3, POT1
    Summary: protection of telomeres 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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