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GTR Home > Conditions/Phenotypes > Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

Summary

Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-7 (PFBMFT7) is an autosomal dominant disorder characterized by variable manifestations associated with shortened telomeres. Features can include pulmonary fibrosis, emphysema, anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia (Stanley et al., 2016). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure syndromes, see PFBMFT1 (614742). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: PFBMFT7, NAF1
    Summary: nuclear assembly factor 1 ribonucleoprotein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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