Details of Disease

General Information of Disease (ID: DIS0QY3J)

Disease Name Diamond-Blackfan anemia 5
Synonyms
DBA5; RPL35A Diamond-Blackfan anemia; Diamond-Blackfan Anemia type 5; Diamond-Blackfan anemia caused by mutation in RPL35A; RPL35A Diamond-Blackfan anaemia; Diamond-Blackfan Anaemia type 5; Diamond-Blackfan anemia 5; Diamond-Blackfan anaemia caused by mutation in RPL35A
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS0QY3J: Diamond-Blackfan anemia 5
Disease Identifiers
MONDO ID
MONDO_0012925
MESH ID
C567280
UMLS CUI
C2675859
OMIM ID
612528
MedGen ID
382705

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IQCG OTIX9V3E Strong CausalMutation [1]
RPL35A OTDDJUWF Strong Autosomal dominant [2]
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References

1 Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. Pediatr Blood Cancer. 2015 Sep;62(9):1597-600. doi: 10.1002/pbc.25534. Epub 2015 May 6.
2 Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008 Sep 1;112(5):1582-92. doi: 10.1182/blood-2008-02-140012. Epub 2008 Jun 5.