General Information of Disease (ID: DISQ94YG)

Disease Name Diamond-Blackfan anemia 12
Synonyms
DBA12; Diamond-Blackfan anemia 12; Diamond-Blackfan anemia caused by mutation in RPL15; RPL15 Diamond-Blackfan anemia; Diamond-Blackfan Anemia type 12; Diamond-Blackfan Anaemia type 12; Diamond-Blackfan anaemia caused by mutation in RPL15; RPL15 Diamond-Blackfan anaemia
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISQ94YG: Diamond-Blackfan anemia 12
Disease Identifiers
MONDO ID
MONDO_0014245
UMLS CUI
C3809888
OMIM ID
615550
MedGen ID
816218

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RPL15 TTQRVC9 Strong Autosomal dominant [1]
RPL15 TTQRVC9 Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RPL15 OT7Y42LL Strong Autosomal dominant [1]
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References

1 Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30.
2 Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29.