Details of Disease

General Information of Disease (ID: DIST4TJ4)

Disease Name Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Synonyms
DBA14; Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive; Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive; Diamond-Blackfan anaemia caused by mutation in TSR2; Diamond-Blackfan anemia caused by mutation in TSR2; Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; TSR2 Diamond-Blackfan anemia; TSR2 Diamond-Blackfan anaemia
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIST4TJ4: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Disease Identifiers
MONDO ID
MONDO_0010493
UMLS CUI
C4225422
OMIM ID
300946
MedGen ID
895657

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
TSR2 OTSIWJQJ Limited X-linked [1]
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References

1 Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18.