MCID: CRB070
MIFTS: 30

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 49 24 28
Neurodegeneration Due to Cerebral Folate Transport Deficiency 49 24 69
Cerebral Folate Transport Deficiency 49 24
Cerebral Folate Deficiency Syndrome 49
Folr1 Deficiency 24

Classifications:



External Ids:

UMLS 69 C2751584

Summaries for Cerebral Folate Deficiency

Genetics Home Reference : 24 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 Selenium Micronutrient Network and One carbon pool by folate. 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

Search Clinical Trials , NIH Clinical Center for Cerebral Folate Deficiency

Genetic Tests for Cerebral Folate Deficiency

Genetic tests related to Cerebral Folate Deficiency:

# Genetic test Affiliating Genes
1 Cerebral Folate Deficiency 28 FOLR1

Anatomical Context for Cerebral Folate Deficiency

MalaCards organs/tissues related to Cerebral Folate Deficiency:

38
Brain, Cerebellum

Publications for Cerebral Folate Deficiency

Articles related to Cerebral Folate Deficiency:

(show all 36)
# 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
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings. ( 27066576 )
2016
4
Electrographic status epilepticus in sleep in an adult with cerebral folate deficiency. ( 26918205 )
2016
5
Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency. ( 27378809 )
2016
6
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. ( 27664775 )
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
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. ( 22835503 )
2012
12
Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency. ( 22749608 )
2012
13
Cerebral folate deficiency--mishaps and misdirection. ( 22734130 )
2012
14
Adult-onset cerebral folate deficiency. ( 22371854 )
2012
15
A new form of cerebral folate deficiency with severe self-injurious behaviour. ( 22861007 )
2012
16
Cerebral folate deficiency: a neurometabolic syndrome? ( 21737328 )
2011
17
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). ( 21752681 )
2011
18
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. ( 21555636 )
2011
19
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency. ( 21388369 )
2011
20
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. ( 21310277 )
2011
21
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. ( 20388557 )
2010
22
Cerebral folate deficiency presenting as adolescent catatonic schizophrenia: a case report. ( 20445197 )
2010
23
Cerebral folate deficiency. ( 20668945 )
2010
24
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. ( 19766516 )
2010
25
Cerebral folate deficiency. ( 19260931 )
2009
26
Progressive encephalopathy in a child with cerebral folate deficiency syndrome. ( 18854521 )
2008
27
Mitochondrial diseases associated with cerebral folate deficiency. ( 18413591 )
2008
28
A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome. ( 18355335 )
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
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. ( 15888699 )
2005
33
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. ( 15781839 )
2005
34
Cerebral folate deficiency syndrome. ( 16107634 )
2005
35
Cerebral folate deficiency: life-changing supplementation with folinic acid. ( 15781200 )
2005
36
Cerebral folate deficiency. ( 15581159 )
2004

Variations for Cerebral Folate Deficiency

ClinVar genetic disease variations for Cerebral Folate Deficiency:

6
# 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
5 FOLR1 NM_016725.2(FOLR1): c.257G> A (p.Trp86Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 71906403: 71906403

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:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 DHFR PHGDH QDPR
2 electron transport chain GO:0022900 9.26 PHGDH QDPR
3 folic acid metabolic process GO:0046655 9.16 DHFR FOLR1
4 axon regeneration GO:0031103 8.96 DHFR FOLR1
5 tetrahydrobiopterin biosynthetic process GO:0006729 8.62 DHFR QDPR

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.54 DHFR PHGDH QDPR
2 electron transfer 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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