Details of Disease

General Information of Disease (ID: DISXRXK7)

Disease Name Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Synonyms
PFBMFT1; pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT; TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related; pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1
Definition Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.
Disease Hierarchy
DISMNLD8: Pulmonary fibrosis and/or bone marrow failure, telomere-related
DISXRXK7: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Disease Identifiers
MONDO ID
MONDO_0013878
UMLS CUI
C3553617
OMIM ID
614742
MedGen ID
766531

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TERT TTQY2EJ Strong Biomarker [1]
TERT TTQY2EJ Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TERT OT085VVA Definitive Autosomal dominant [2]
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References

1 The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.