Details of Disease

General Information of Disease (ID: DISL2FBU)

Disease Name Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Synonyms PFBMFT5; PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5
Disease Hierarchy
DISMNLD8: Pulmonary fibrosis and/or bone marrow failure, telomere-related
DISL2FBU: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Disease Identifiers
MONDO ID
MONDO_0032865
UMLS CUI
C5231457
OMIM ID
618674
MedGen ID
1684878

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
ZCCHC8 OTO8ZEY5 Limited Unknown [1]
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References

1 ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. Genes Dev. 2019 Oct 1;33(19-20):1381-1396. doi: 10.1101/gad.326785.119. Epub 2019 Sep 5.