Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Log in to bookmark this disease

Bookmark This Disease

Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
617780C4540434MONDO:0060611
MTHFD1 Causal
19033438 21813566 25548164 25633902 27707659
CTD, ClinVar, Disgenet, HPO, ClinGen
ZBTB25 Unknown — Disgenet —
All2 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.
5 View disease cluster →
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Neural tube defects, folate-sensitive 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Cardiac valvular dysplasia 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Down syndrome 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Neural tube defect 2 shared genesZBTB25, MTHFD1 Related via 2 shared genes including ZBTB25, MTHFD1.