pulmonary fibrosis, and/or bone marrow failure, telomere-related, type

pulmonary fibrosis, and/or bone marrow failure, telomere-related, type 1

A rare multisystem disorder (OMIM:614742) caused by defective telomere maintenance, characterised by progressive bone marrow failure and a clinical triad of reticulated skin hyperpigmentation, nail dystrophy and mucosal leukoplakia; it is variably accompanied by early greying, aplastic anaemia, low platelets, osteoporosis, lung and liver fibrosis, and early death due to bone marrow failure, infections, fatal pulmonary complications or malignancy.

Molecular pathology
Caused by defects of TERT, which encodes telomerase reverse transcriptase.
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