Details of Disease

General Information of Disease (ID: DISK1NTB)

• Disease Name: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
• Synonyms: PFBMFT3; pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3; pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3; pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3; RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related
• Definition: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.
• Disease Hierarchy:
  DIS3OX2G: Dyskeratosis congenita and related telomere biology disorder
  DISMNLD8: Pulmonary fibrosis and/or bone marrow failure, telomere-related
  DISK1NTB: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
• Disease Identifiers:
  MONDO ID: MONDO_0014613
  UMLS CUI: C4225346
  OMIM ID: 616373
  MedGen ID: 901644

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RBM8A	OT5SR6G0	Limited	Biomarker	[1]
RTEL1	OTI3PJCT	Strong	Autosomal dominant	[2]

References

• [1] Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21.
• [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.