Details of Disease

General Information of Disease (ID: DISNEUZI)

Disease Name Diamond-Blackfan anemia 13
Synonyms
DBA13; Diamond-Blackfan anaemia caused by mutation in RPS29; RPS29 Diamond-Blackfan anaemia; Diamond-Blackfan anemia caused by mutation in RPS29; Diamond-Blackfan anemia 13; RPS29 Diamond-Blackfan anemia; Diamond-Blackfan Anaemia type 13; Diamond-Blackfan Anemia type 13
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISNEUZI: Diamond-Blackfan anemia 13
Disease Identifiers
MONDO ID
MONDO_0014394
UMLS CUI
C4014641
OMIM ID
615909
MedGen ID
863078

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
RPS29 OTCC1872 Strong Autosomal dominant [1]
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References

1 Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14.