Terminology Service for NFDI4Health
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Hereditary Folate Malabsorption

Go to external page http://purl.obolibrary.org/obo/NCIT_C156424

An autosomal recessive condition caused by mutation(s) in the SCL46A1 gene, encoding proton-coupled folate transporter. It is characterized by low concentrations of folate resulting in megaloblastic anemia, immune deficiency, and neurologic deficits. [ ]

Term info

Label

Hereditary Folate Malabsorption

Synonyms
  • Hereditary Folate Malabsorption
Preferred Name

Hereditary Folate Malabsorption

Semantic Type

Disease or Syndrome

UMLS CUI

C0342705

code

C156424