IEMbase 0071: FOLR1-related folate receptor alpha deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 71 |
| Nosology | 21.8.02.01 |
| Gene | FOLR1 |
| External IDs | OMIM:613068 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Best fuzzy candidate Pyruvate_Dehydrogenase_Deficiency.yaml#E1-alpha deficiency |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive FOLR1-related folate receptor alpha deficiency, also labeled cerebral folate deficiency and CFD. Treatability is marked yes.
The characteristic biochemical signal includes abnormal CSF 5-methyltetrahydrofolic acid, plasma folate, and MRS choline and inositol rows. Characteristic clinical rows include ataxia, cerebral atrophy on MRI, dyskinesia, hypertonia, hypomyelination on MRI, seizures, and myoclonic-astatic seizures.
Additional clinical rows include autism spectrum disorder, aggressive behavior, cerebellar atrophy, chorea, developmental regression, abnormal EEG, gait disturbance, microcephaly, movement disorder, tonic-clonic seizures, increased tendon reflexes, and tremor. The treatment row is folinic acid.
DisMech phenotype coverage
No valid local DisMech target was found for FOLR1, folate receptor alpha deficiency, or primary cerebral folate deficiency.
The best fuzzy candidate, Pyruvate_Dehydrogenase_Deficiency.yaml#E1-alpha
deficiency, is a false positive. PDH deficiency can include neurologic disease,
seizures, and brain MRI abnormalities, but it is a pyruvate-to-acetyl-CoA
oxidative decarboxylation disorder, not a folate receptor or CSF folate
transport disorder.
The local Tetrahydrobiopterin_Deficiency.yaml entry mentions secondary
cerebral folate deficiency in DHPR deficiency, but that is not FOLR1-related
primary cerebral folate deficiency and should not be used as the mapping target.
Concordance and completeness
Judgement: true local gap.
This is a treatable folate-receptor disorder with a distinctive low-CSF 5-MTHF/folinic-acid axis and neurologic presentation. Current DisMech coverage only touches secondary cerebral folate issues in other disorders, not the primary FOLR1 disease.
Curation actions
- Keep this IEMbase record unmapped for now.
- Add a future standalone FOLR1 cerebral folate deficiency entry.
- Preserve distinction from PDH deficiency and DHPR/BH4 deficiency, which can share neurologic or folate-related features but have different primary mechanisms.