Details of Disease

General Information of Disease (ID: DISLEU4D)

Disease Name Diamond-Blackfan anemia 10
Synonyms
DBA10; Diamond-Blackfan anemia caused by mutation in RPS26; Diamond-Blackfan anemia 10; RPS26 Diamond-Blackfan anemia; Diamond-Blackfan Anaemia type 10; Diamond-Blackfan Anemia type 10; Diamond-Blackfan anaemia caused by mutation in RPS26; RPS26 Diamond-Blackfan anaemia
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISLEU4D: Diamond-Blackfan anemia 10
Disease Identifiers
MONDO ID
MONDO_0013217
MESH ID
C567649
UMLS CUI
C2750080
OMIM ID
613309
MedGen ID
412873

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
RPS26 OTBYTA6A Definitive Autosomal dominant [1]
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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.