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combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (DOID:0070742)
Alliance: disease page
Synonyms: CIMAH; methylenetetrahydrofolate dehydrogenase 1 deficiency; MTHFD1 deficiency
Alt IDs: OMIM:617780, ICD10CM:E88.8, ORDO:658813, UMLS_CUI:C4540434
Definition: A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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05/26/2026
MGI 6.24 		The Jackson Laboratory