Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 (PFBMFT5)

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OMIM 56 618674 OMIM Phenotypic Series 56 PS614742 MeSH 43 D011658

MedGen 41 CN262924 EFO 17 EFO_0010664

UniProtKB/Swiss-Prot : ⁷³ Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5: A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant.

MalaCards based summary : Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5, is also known as pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5. An important gene associated with Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 is ZCCHC8 (Zinc Finger CCHC-Type Containing 8). Affiliated tissues include bone marrow, bone and myeloid.

OMIM : ⁵⁶ Individuals with PFBMFT5 have an age-dependent, rapidly progressive phenotype of pulmonary fibrosis and/or bone marrow failure with short telomeres and low levels of TERC (602322), a specialized noncoding RNA that provides the template for telomere repeat addition (Gable et al., 2019). (618674)

Clinical features from OMIM:

618674

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