Details of Disease | DrugMAP

General Information of Disease (ID: DISCLJJ3)

Disease Name	Cerebral folate deficiency
Definition	Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.
Disease Hierarchy	DISOEVKS: Metabolic epilepsy DISD715V: Hereditary neurological disease DISLXUF3: Inborn vitamin metabolic disorder DISCLJJ3: Cerebral folate deficiency
Disease Identifiers	MONDO ID MONDO_0100034 UMLS CUI C4022901 MedGen ID 893131 HPO ID HP:0012446

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNB1	TT5OEKU	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CIC	OTFXCHNZ	Strong	Autosomal dominant	[2]
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References

1	The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2.
2	CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression. J Med Genet. 2021 Jul;58(7):484-494. doi: 10.1136/jmedgenet-2020-106987. Epub 2020 Aug 20.