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Standards Ontologies Notations
hereditary folate malabsorption

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease vitamin metabolic disorder
Disease Ontology
DOID:0111678
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
113235 SLC46A1 solute carrier family 46 member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
52466 Slc46a1 solute carrier family 46, member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
303333 Slc46a1 solute carrier family 46 member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
393255 slc46a1 solute carrier family 46 member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
446819 slc46a1.L solute carrier family 46 (folate transporter), member 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
189356 slc-46A Solute carrier family 46 member 3
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024