Details of Disease

General Information of Disease (ID: DISKACXA)

Disease Name Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Synonyms
pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4; PFBMFT4; PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related; pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN; pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Definition Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.
Disease Hierarchy
DISMNLD8: Pulmonary fibrosis and/or bone marrow failure, telomere-related
DISKACXA: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Disease Identifiers
MONDO ID
MONDO_0014612
UMLS CUI
C4225347
OMIM ID
616371
MedGen ID
903928

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PARN OTTG4PE3 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr 13.