Details of Disease

General Information of Disease (ID: DISKMEPI)

Disease Name Diamond-Blackfan anemia 4
Synonyms
DBA4; RPS17 Diamond-Blackfan anaemia; Diamond-Blackfan Anemia type 4; RPS17 Diamond-Blackfan anemia; Diamond-Blackfan anemia caused by mutation in RPS17; Diamond-Blackfan Anaemia type 4; Diamond-Blackfan anaemia caused by mutation in RPS17; Diamond-Blackfan anemia 4
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISKMEPI: Diamond-Blackfan anemia 4
Disease Identifiers
MONDO ID
MONDO_0012924
MESH ID
C567281
UMLS CUI
C2675860
OMIM ID
612527
MedGen ID
393906

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
RPS17 OTWHZ2JQ Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.