cerebral folate receptor alpha deficiency

Summary
Synonym
  • Neurodegeneration due to cerebral folate transport deficiency
Definition
A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
Super Class
autosomal recessive disease vitamin metabolic disorder
External Links
Disease Ontology
DOID:0050719
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2348 FOLR1 folate receptor alpha
2350 FOLR2 folate receptor beta
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P14207 Folate receptor beta
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0002180 Neurodegeneration
HP:0000007 Autosomal recessive inheritance
HP:0002376 Developmental regression
HP:0001250 Seizure
Displaying 1 entry
Gene ID Gene Symbol Description
2348 FOLR1 folate receptor alpha

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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: August 19, 2024