Details of Disease | DrugMAP

General Information of Disease (ID: DISGEHPQ)

Disease Name	Neurodegenerative syndrome due to cerebral folate transport deficiency
Synonyms	neurodegeneration due to cerebral folate TRANSPORT deficiency; cerebral folate deficiency syndrome; cerebral folate transport deficiency; cerebral folate receptor alpha deficiency; neurodegenerative syndrome due to cerebral folate transport deficiency
Disease Hierarchy	DISPN7D2: Inherited neurodegenerative disorder DISLXUF3: Inborn vitamin metabolic disorder DISSPA57: Disorder of folate metabolism and transport DISGEHPQ: Neurodegenerative syndrome due to cerebral folate transport deficiency
Disease Identifiers	MONDO ID MONDO_0013110 MESH ID C567791 UMLS CUI C2751584 OMIM ID 613068 MedGen ID 442763 Orphanet ID 217382 SNOMED CT ID 711403001

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
FOLR1	TTVC37M	Definitive	Autosomal recessive	[1]
SLC46A1	TTY8Z2E	Definitive	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTFMT	OT1OIVJL	Limited	CausalMutation	[3]
FOLR1	OT0QZ0H6	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.Mol Aspects Med. 2017 Feb;53:57-72. doi: 10.1016/j.mam.2016.09.002. Epub 2016 Sep 21.
3	Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25.