Details of Disease

General Information of Disease (ID: DISPMBY3)

Disease Name Anemia, sideroblastic, 5
Synonyms SIDBA5
Disease Hierarchy
DISLT2PU: Inherited sideroblastic anemia
DISPMBY3: Anemia, sideroblastic, 5
Disease Identifiers
MONDO ID
MONDO_0030436
UMLS CUI
C5561985
OMIM ID
619523
MedGen ID
1794195

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
HSCB OTP8YV25 Limited Unknown [1]
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References

1 Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. J Clin Invest. 2020 Oct 1;130(10):5245-5256. doi: 10.1172/JCI135479.