Details of Disease

General Information of Disease (ID: DIST6ZI1)

Disease Name Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Synonyms methylenetetrahydrofolate dehydrogenase 1 deficiency; CIMAH; combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Disease Hierarchy
DISYKSRF: Genetic disease
DIST6ZI1: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Disease Identifiers
MONDO ID
MONDO_0060611
UMLS CUI
C4540434
OMIM ID
617780
MedGen ID
1615364

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
MTHFD1 OTMKHVWC Strong Autosomal recessive [1]
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References

1 Mthfd1 is an essential gene in mice and alters biomarkers of impaired one-carbon metabolism. J Biol Chem. 2009 Jan 16;284(3):1533-9. doi: 10.1074/jbc.M808281200. Epub 2008 Nov 25.