Details of Disease

General Information of Disease (ID: DISNNXA4)

Disease Name Diamond-Blackfan anemia 21
Synonyms diamond-blackfan anaemia 21; diamond-blackfan anemia 21; DBA21
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISNNXA4: Diamond-Blackfan anemia 21
Disease Identifiers
MONDO ID
MONDO_0031071
UMLS CUI
C5774230
OMIM ID
620072
MedGen ID
1824003

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
HEATR3 OTB52FZ4 Strong Autosomal recessive [1]
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References

1 HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846.