Details of Disease

General Information of Disease (ID: DISQ0PDQ)

Disease Name Diamond-Blackfan anemia 11
Synonyms
DBA11; Diamond-Blackfan anemia caused by mutation in RPL26; RPL26 Diamond-Blackfan anaemia; RPL26 Diamond-Blackfan anemia; Diamond-Blackfan Anemia type 11; Diamond-Blackfan Anaemia type 11; Diamond-Blackfan anemia 11; Diamond-Blackfan anaemia caused by mutation in RPL26
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISQ0PDQ: Diamond-Blackfan anemia 11
Disease Identifiers
MONDO ID
MONDO_0013964
UMLS CUI
C3554042
OMIM ID
614900
MedGen ID
766956

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
RPL26 OTFNRC27 Strong Autosomal dominant [1]
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References

1 Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16.