Details of Disease

General Information of Disease (ID: DIS9XT7J)

Disease Name Hereditary folate malabsorption
Synonyms folate malabsorption, hereditary; folic acid transport defect; congenital defect of folate absorption; congenital folate malabsorption
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.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DISQL71U: Inherited deficiency anemia
DISGMUVS: Malabsorption syndrome
DISVIZPC: Megaloblastic anemia
DISSPA57: Disorder of folate metabolism and transport
DIS9XT7J: Hereditary folate malabsorption
Disease Identifiers
MONDO ID
MONDO_0009238
MESH ID
C562799
UMLS CUI
C0342705
OMIM ID
229050
MedGen ID
83348
Orphanet ID
90045
SNOMED CT ID
62578003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC46A1 TTY8Z2E Limited Genetic Variation [1]
FOLR1 TTVC37M Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC46A1 DTDJEMI Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC46A1 OT049V7Y Definitive Autosomal recessive [3]
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References

1 Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.Pediatr Neurol. 2020 Jan;102:62-66. doi: 10.1016/j.pediatrneurol.2019.06.009. Epub 2019 Jun 22.
2 Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.Brain Dev. 2017 Mar;39(3):266-270. doi: 10.1016/j.braindev.2016.09.011. Epub 2016 Oct 12.
3 A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Blood. 2008 Sep 1;112(5):2055-61. doi: 10.1182/blood-2008-04-150276. Epub 2008 Jun 17.