hereditary folate malabsorption
Findings
No curated finding names hereditary folate malabsorption yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
Definition from the Mondo Disease Ontology (MONDO:0009238), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating folate concentrationHPOHP:0100507
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Folate-responsive megaloblastic anemiaHPOHP:0004851
- 2 of 2 reported patients
- Recurrent infectionsHPOHP:0002719
- 2 of 2 reported patients
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- Abnormality of the immune systemHPOHP:0002715
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Megaloblastic anemiaHPOHP:0001889
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- PallorHPOHP:0000980
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC46A1HGNC:30521
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: hereditary folate malabsorption
- Also called
- congenital folate malabsorption