Details of Disease

General Information of Disease (ID: DIS1AP5E)

Disease Name Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Synonyms
DBA15; Diamond Blackfan anaemia 15 with mandibulofacial dysostosis; RPS28 Diamond-Blackfan anemia; Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis; RPS28 Diamond-Blackfan anaemia; Diamond-Blackfan anaemia caused by mutation in RPS28; Diamond-Blackfan anemia caused by mutation in RPS28
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.|Not in the OMIM series 105650.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS1AP5E: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Disease Identifiers
MONDO ID
MONDO_0011639
UMLS CUI
C4225411
OMIM ID
606164
MedGen ID
902755

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
RPS28 OT12IES1 Moderate Autosomal dominant [1]
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References

1 Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18.