General Information of Disease (ID: DIST0BXW)

Disease Name Anemia, hypochromic microcytic with iron overload
Synonyms anemia, hypochromic microcytic, with iron overload
Disease Hierarchy
DIS0RMTQ: Hypochromic microcytic anemia
DISYKSRF: Genetic disease
DIST0BXW: Anemia, hypochromic microcytic with iron overload
Disease Identifiers
MONDO ID
MONDO_0000104
MESH ID
C567144
UMLS CUI
C2673913
MedGen ID
388759
SNOMED CT ID
711161006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC11A2 TT2IS7P Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHMP2B OTZA7RJB Strong Genetic Variation [1]
DMRT1 OT5PU9U1 Strong Genetic Variation [1]
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References

1 A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.Blood Cells Mol Dis. 2011 Dec 15;47(4):243-8. doi: 10.1016/j.bcmd.2011.07.004. Epub 2011 Aug 26.