Details of Disease

General Information of Disease (ID: DISZSAQO)

Disease Name Bone marrow failure syndrome 4
Synonyms BONE MARROW FAILURE SYNDROME 4; BMFS4
Disease Hierarchy
DISVUY1J: Bone marrow failure syndrome
DISZSAQO: Bone marrow failure syndrome 4
Disease Identifiers
MONDO ID
MONDO_0020856
UMLS CUI
C4748257
OMIM ID
618116
MedGen ID
1648485

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
MYSM1 OTO73N00 Strong Autosomal recessive [1]
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References

1 MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts. Blood. 2013 Nov 28;122(23):3844-5. doi: 10.1182/blood-2013-09-527127.