hereditary folate malabsorption

Term ID

DOID:0111678

Synonyms

• congenital defect of folate absorption
• congenital folate malabsorption

Definition

A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. (2)

References

• GARD:12983
• MESH:C562799
• NCI:C156424
• OMIM:229050
• ORDO:90045
• SNOMEDCT_US_2023_03_01:62578003
• UMLS_CUI:C0342705

Ontology

Human Disease   ( DOID:0111678 )