MCID: CRB070
MIFTS: 37

Cerebral Folate Deficiency

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Cerebral Folate Deficiency

MalaCards integrated aliases for Cerebral Folate Deficiency:

Name: Cerebral Folate Deficiency 50 25 29
Neurodegeneration Due to Cerebral Folate Transport Deficiency 50 25 69
Cerebral Folate Transport Deficiency 50 25
Cerebral Folate Deficiency Syndrome 50
Folr1 Deficiency 25

Classifications:



Summaries for Cerebral Folate Deficiency

Genetics Home Reference : 25 Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain. Affected children have normal development during infancy, but around age 2 they begin to lose previously acquired mental and movement abilities (psychomotor regression). They develop intellectual disability, speech difficulties, and recurrent seizures (epilepsy). Movement problems such as tremors and difficulty coordinating movements (ataxia) can be severe, and some affected individuals need wheelchair assistance. Affected individuals have leukodystrophy, which is a loss of a type of brain tissue known as white matter. White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. Leukodystrophy contributes to the neurological problems that occur in cerebral folate transport deficiency. Without treatment, these neurological problems worsen over time.

MalaCards based summary : Cerebral Folate Deficiency, also known as neurodegeneration due to cerebral folate transport deficiency, is related to neurodegeneration due to cerebral folate transport deficiency and megaloblastic anemia due to dihydrofolate reductase deficiency, and has symptoms including seizures An important gene associated with Cerebral Folate Deficiency is FOLR1 (Folate Receptor 1), and among its related pathways/superpathways are One carbon pool by folate and Antifolate resistance. The drugs Folic Acid and Thiamine have been mentioned in the context of this disorder. Affiliated tissues include brain and cerebellum.

Related Diseases for Cerebral Folate Deficiency

Graphical network of the top 20 diseases related to Cerebral Folate Deficiency:



Diseases related to Cerebral Folate Deficiency

Symptoms & Phenotypes for Cerebral Folate Deficiency

UMLS symptoms related to Cerebral Folate Deficiency:


seizures

Drugs & Therapeutics for Cerebral Folate Deficiency

Drugs for Cerebral Folate Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
2
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
3 Vitamins Phase 4,Phase 2,Phase 3
4 Micronutrients Phase 4,Phase 2,Phase 3
5 Trace Elements Phase 4,Phase 2,Phase 3
6 Vitamin B Complex Phase 4,Phase 2,Phase 3
7 Folate Nutraceutical Phase 4,Phase 2,Phase 3
8 Thiamin Nutraceutical Phase 4
9 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3
10
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 5460373 44475014
11
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
12 Hematinics Phase 2, Phase 3
13 Vitamin B 12 Phase 2, Phase 3
14
Cobalamin Nutraceutical Phase 2, Phase 3 13408-78-1 6438156
15
Methylcobalamin Experimental, Nutraceutical Phase 2, Phase 3 13422-55-4
16 Vitamin B12 Nutraceutical Phase 2, Phase 3
17
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
18 Antimetabolites Phase 2
19 Gastrointestinal Agents Phase 2
20 Hypolipidemic Agents Phase 2
21 Lipid Regulating Agents Phase 2
22
Acetylcysteine Approved, Investigational 616-91-1 12035
23
Nitrous oxide Approved, Vet_approved 10024-97-2 948
24
Copper Approved 7440-50-8 27099
25
Iron Approved 7439-89-6 23925
26
Selenium Approved, Vet_approved 7782-49-2
27
Zinc Approved 7440-66-6 32051 23994
28
leucovorin Approved, Nutraceutical 58-05-9 143 6006
29
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
30
Nicotinamide Approved, Nutraceutical 98-92-0 936
31
Pyridoxal Approved, Nutraceutical 66-72-8 1050
32
Pyridoxine Approved, Nutraceutical, Vet_approved 65-23-6 1054
33
Riboflavin Approved, Nutraceutical, Vet_approved 83-88-5 493570
34 Tocopherol Approved, Nutraceutical
35
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
36
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
37
Biotin Approved, Nutraceutical 58-85-5 171548
38
Manganese Approved, Nutraceutical 7439-96-5 27854
39
Menadione Approved, Nutraceutical 58-27-5 4055
40
Phytonadione Approved, Nutraceutical 84-80-0 4812 5284607
41
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
42
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
43
Iodine Investigational 7553-56-2 807
44 Nicotinic Acids
45 Tocopherols
46 Tocotrienols
47 Vitamin B 6
48 Anti-Infective Agents
49 Antioxidants
50 Antiviral Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Optimum Thiamine Intervention (OpTIn) Trial Recruiting NCT02788552 Phase 4 Thiamine Hydrochloride
2 Vitamin B12, Neurodevelopment and Growth in Nepal Active, not recruiting NCT02272842 Phase 2, Phase 3
3 Betaine METABOLISM OF PATIENTS With Homocystinuria Recruiting NCT02404337 Phase 2 Betaine
4 Multiple Nutritional Deficiencies Causing Dementia of the Alzheimer Type Unknown status NCT01479855
5 In Utero Capacity Formation and Socio-economic Outcomes Completed NCT01412580
6 Oral Vitamin B12 Supplementation and Cognitive Performance in Elderly People Completed NCT00111267
7 NAC-003 P.L.U.S. Program (Progress Through Learning Understanding & Support) Completed NCT01370954
8 Interaction of Cobalamin Status With Nitrous Oxide in Relation to Postoperative Cognitive Changes in the Elderly Completed NCT00212147 general anesthesia
9 Comparison of Two Nutrition Interventions in Young Children in El Salvador Recruiting NCT02567981
10 Developmental Origins of Mental Health Disorders Not yet recruiting NCT03096028

Search NIH Clinical Center for Cerebral Folate Deficiency

Genetic Tests for Cerebral Folate Deficiency

Genetic tests related to Cerebral Folate Deficiency:

id Genetic test Affiliating Genes
1 Cerebral Folate Deficiency 29

Anatomical Context for Cerebral Folate Deficiency

MalaCards organs/tissues related to Cerebral Folate Deficiency:

39
Brain, Cerebellum

Publications for Cerebral Folate Deficiency

Articles related to Cerebral Folate Deficiency:

(show all 36)
id Title Authors Year
1
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. ( 28054128 )
2017
2
Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach. ( 28339176 )
2017
3
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. ( 27664775 )
2016
4
Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency. ( 27378809 )
2016
5
Electrographic status epilepticus in sleep in an adult with cerebral folate deficiency. ( 26918205 )
2016
6
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings. ( 27066576 )
2016
7
Clinical, etiological and therapeutic aspects of cerebral folate deficiency. ( 26092490 )
2015
8
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. ( 25274592 )
2014
9
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
10
Clinical recognition and aspects of the cerebral folate deficiency syndromes. ( 23314536 )
2013
11
A new form of cerebral folate deficiency with severe self-injurious behaviour. ( 22861007 )
2012
12
Cerebral folate deficiency--mishaps and misdirection. ( 22734130 )
2012
13
Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency. ( 22749608 )
2012
14
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. ( 22835503 )
2012
15
Adult-onset cerebral folate deficiency. ( 22371854 )
2012
16
Cerebral folate deficiency: a neurometabolic syndrome? ( 21737328 )
2011
17
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. ( 21555636 )
2011
18
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. ( 21310277 )
2011
19
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency. ( 21388369 )
2011
20
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). ( 21752681 )
2011
21
Cerebral folate deficiency. ( 20668945 )
2010
22
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. ( 19766516 )
2010
23
Cerebral folate deficiency presenting as adolescent catatonic schizophrenia: a case report. ( 20445197 )
2010
24
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. ( 20388557 )
2010
25
Cerebral folate deficiency. ( 19260931 )
2009
26
A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome. ( 18355335 )
2008
27
Progressive encephalopathy in a child with cerebral folate deficiency syndrome. ( 18854521 )
2008
28
Mitochondrial diseases associated with cerebral folate deficiency. ( 18413591 )
2008
29
Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. ( 17202777 )
2007
30
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. ( 18461502 )
2007
31
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. ( 16365882 )
2006
32
Cerebral folate deficiency syndrome. ( 16107634 )
2005
33
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. ( 15888699 )
2005
34
Cerebral folate deficiency: life-changing supplementation with folinic acid. ( 15781200 )
2005
35
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. ( 15781839 )
2005
36
Cerebral folate deficiency. ( 15581159 )
2004

Variations for Cerebral Folate Deficiency

ClinVar genetic disease variations for Cerebral Folate Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOLR1 NM_016725.2(FOLR1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs121918405 GRCh37 Chromosome 11, 71906498: 71906498
2 FOLR1 NM_016724.2(FOLR1): c.525C> A (p.Cys175Ter) single nucleotide variant Pathogenic rs121918406 GRCh37 Chromosome 11, 71906972: 71906972
3 FOLR1 FOLR1, 18-BP DUP, NT130 duplication Pathogenic
4 FOLR1 FOLR1, SPLICE SITE MUTATION single nucleotide variant Pathogenic

Expression for Cerebral Folate Deficiency

Search GEO for disease gene expression data for Cerebral Folate Deficiency.

Pathways for Cerebral Folate Deficiency

GO Terms for Cerebral Folate Deficiency

Biological processes related to Cerebral Folate Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 DHFR PHGDH QDPR
2 folic acid metabolic process GO:0046655 9.16 DHFR FOLR1
3 axon regeneration GO:0031103 8.96 DHFR FOLR1
4 tetrahydrobiopterin biosynthetic process GO:0006729 8.62 DHFR QDPR

Molecular functions related to Cerebral Folate Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.54 DHFR PHGDH QDPR
2 electron carrier activity GO:0009055 9.32 PHGDH QDPR
3 drug binding GO:0008144 9.26 DHFR FOLR1
4 NADPH binding GO:0070402 9.16 DHFR QDPR
5 folic acid binding GO:0005542 8.96 DHFR FOLR1
6 methotrexate binding GO:0051870 8.62 DHFR FOLR1

Sources for Cerebral Folate Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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