Details of Disease | DrugMAP

General Information of Disease (ID: DISVQKA4)

Disease Name	Bone marrow failure syndrome 3
Synonyms	bone marrow failure syndrome 3; DNAJC21 bone marrow failure syndrome; BMFS3; bone marrow failure syndrome caused by mutation in DNAJC21; bone marrow failure syndrome type 3
Definition	Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.
Disease Hierarchy	DISVUY1J: Bone marrow failure syndrome DISVQKA4: Bone marrow failure syndrome 3
Disease Identifiers	MONDO ID MONDO_0014887 UMLS CUI C4310744 OMIM ID 617052 MedGen ID 934711

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
DNAJC21	OT8C14QA	Strong	Autosomal recessive	[1]
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References

1	DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23.