combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Term ID

DOID:0070742

Synonyms

• CIMAH
• methylenetetrahydrofolate dehydrogenase 1 deficiency
• MTHFD1 deficiency

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. (2)

References

• GARD:0026001
• ICD10CM:E88.8
• MIM:617780
• ORDO:658813
• UMLS_CUI:C4540434

Ontology

Human Disease   ( DOID:0070742 )