Details of Disease

General Information of Disease (ID: DIS4EPFG)

Disease Name Diamond-Blackfan anemia 8
Synonyms
DBA8; Diamond-Blackfan anemia 8; Diamond-Blackfan anemia caused by mutation in RPS7; Diamond-Blackfan Anaemia type 8; Diamond-Blackfan anaemia caused by mutation in RPS7; RPS7 Diamond-Blackfan anemia; RPS7 Diamond-Blackfan anaemia; Diamond-Blackfan Anemia type 8
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS4EPFG: Diamond-Blackfan anemia 8
Disease Identifiers
MONDO ID
MONDO_0012939
MESH ID
C567253
UMLS CUI
C2675511
OMIM ID
612563
MedGen ID
390817

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
RPS7 OTIK25WI Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Br J Haematol. 2013 Aug;162(4):530-6. doi: 10.1111/bjh.12397. Epub 2013 May 30.