Preferred Label : Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1;
Symbol : PFBMFT1;
CISMeF acronym : PFBMFT1;
Type : Phenotype, molecular basis known;
Description : Shortened telomeres can cause a wide variety of clinical features that constitute
a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g.,
127750), characterized by early childhood onset of skin abnormalities, bone marrow
failure, predisposition to malignancy, and risk of pulmonary and hepatic fibrosis.
Adult-onset pulmonary fibrosis is the most common manifestation of mutant telomerase
genes. Other manifestations include aplastic anemia due to bone marrow failure, hepatic
fibrosis, and increased cancer risk, particularly myelodysplastic syndrome (MDS) and
acute myeloid leukemia (AML). Phenotype, age at onset, and severity are determined
by telomere length, not just telomerase mutation (summary by Armanios, 2009). The
genetic diagnosis of telomere-related bone marrow failure and pulmonary fibrosis has
implications for treatment because affected individuals generally do not respond to
immunosuppression and may be at increased risk for fatal complications after bone
marrow or lung transplantation (Parry et al., 2011). - Genetic Heterogeneity of Telomere-Related
Pulmonary Fibrosis and/or Bone Marrow Failure;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the telomerase reverse transcriptase gene (TERT, 187270.0001);
Neoplasia : Increased risk for cancer; Increased risk for myelodysplastic syndrome; Increased risk for hematologic cancer, particularly acute myeloid leukemia;
Laboratory abnormalities : Decreased telomere length in lymphocytes;
Prefixed ID : #614742;
Origin ID : 614742;
UMLS CUI : C3553617;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
