MCID: CRB070
MIFTS: 29

Cerebral Folate Deficiency

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Folate Deficiency

MalaCards integrated aliases for Cerebral Folate Deficiency:

Name: Cerebral Folate Deficiency 54 26 30 6
Neurodegeneration Due to Cerebral Folate Transport Deficiency 54 26 74
Cerebral Folate Transport Deficiency 54 26
Cerebral Folate Deficiency Syndrome 54
Folr1 Deficiency 26

Classifications:



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UMLS 74 C2751584

Summaries for Cerebral Folate Deficiency

Genetics Home Reference : 26 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 Alpha), and among its related pathways/superpathways are Selenium Micronutrient Network and One carbon pool by folate. Affiliated tissues include brain, testes 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 30 FOLR1

Anatomical Context for Cerebral Folate Deficiency

MalaCards organs/tissues related to Cerebral Folate Deficiency:

42
Brain, Testes, Cerebellum

Publications for Cerebral Folate Deficiency

Articles related to Cerebral Folate Deficiency:

(show all 44)
# Title Authors Year
1
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency. ( 30383884 )
2019
2
Complex heterozygous polymerase gamma mutation and cerebral folate deficiency in a child with refractory partial status. ( 30860128 )
2019
3
Cerebral folate deficiency: Analytical tests and differential diagnosis. ( 30916789 )
2019
4
Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome. ( 29661558 )
2018
5
Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition. ( 30448717 )
2018
6
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. ( 27664775 )
2017
7
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. ( 28054128 )
2017
8
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
9
Electrographic status epilepticus in sleep in an adult with cerebral folate deficiency. ( 26918205 )
2016
10
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings. ( 27066576 )
2016
11
Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency. ( 27378809 )
2016
12
Clinical, etiological and therapeutic aspects of cerebral folate deficiency. ( 26092490 )
2015
13
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. ( 25274592 )
2014
14
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
15
Clinical recognition and aspects of the cerebral folate deficiency syndromes. ( 23314536 )
2013
16
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ( 23519317 )
2013
17
Adult-onset cerebral folate deficiency. ( 22371854 )
2012
18
Cerebral folate deficiency--mishaps and misdirection. ( 22734130 )
2012
19
Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency. ( 22749608 )
2012
20
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. ( 22835503 )
2012
21
A new form of cerebral folate deficiency with severe self-injurious behaviour. ( 22861007 )
2012
22
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. ( 21310277 )
2011
23
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency. ( 21388369 )
2011
24
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. ( 21555636 )
2011
25
Cerebral folate deficiency: a neurometabolic syndrome? ( 21737328 )
2011
26
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). ( 21752681 )
2011
27
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011
28
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. ( 19766516 )
2010
29
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. ( 20388557 )
2010
30
Cerebral folate deficiency presenting as adolescent catatonic schizophrenia: a case report. ( 20445197 )
2010
31
Cerebral folate deficiency. ( 20668945 )
2010
32
Cerebral folate deficiency. ( 19260931 )
2009
33
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. ( 19732866 )
2009
34
A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome. ( 18355335 )
2008
35
Mitochondrial diseases associated with cerebral folate deficiency. ( 18413591 )
2008
36
Progressive encephalopathy in a child with cerebral folate deficiency syndrome. ( 18854521 )
2008
37
Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. ( 17202777 )
2007
38
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. ( 18461502 )
2007
39
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. ( 16365882 )
2006
40
Cerebral folate deficiency: life-changing supplementation with folinic acid. ( 15781200 )
2005
41
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. ( 15781839 )
2005
42
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. ( 15888699 )
2005
43
Cerebral folate deficiency syndrome. ( 16107634 )
2005
44
Cerebral folate deficiency. ( 15581159 )
2004

Variations for Cerebral Folate Deficiency

ClinVar genetic disease variations for Cerebral Folate Deficiency:

6 (show top 50) (show all 64)
# 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_016725.2(FOLR1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs121918405 GRCh38 Chromosome 11, 72195454: 72195454
3 FOLR1 NM_016724.2(FOLR1): c.525C> A (p.Cys175Ter) single nucleotide variant Pathogenic rs121918406 GRCh37 Chromosome 11, 71906972: 71906972
4 FOLR1 NM_016724.2(FOLR1): c.525C> A (p.Cys175Ter) single nucleotide variant Pathogenic rs121918406 GRCh38 Chromosome 11, 72195928: 72195928
5 FOLR1 FOLR1, 18-BP DUP, NT130 duplication Pathogenic
6 FOLR1 FOLR1, SPLICE SITE MUTATION single nucleotide variant Pathogenic
7 FOLR1 NM_016725.2(FOLR1): c.493+2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs144637717 GRCh37 Chromosome 11, 71906793: 71906793
8 FOLR1 NM_016725.2(FOLR1): c.493+2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs144637717 GRCh38 Chromosome 11, 72195749: 72195749
9 FOLR1 NM_016725.2(FOLR1): c.321C> T (p.Tyr107=) single nucleotide variant Benign/Likely benign rs145674759 GRCh38 Chromosome 11, 72195423: 72195423
10 FOLR1 NM_016725.2(FOLR1): c.321C> T (p.Tyr107=) single nucleotide variant Benign/Likely benign rs145674759 GRCh37 Chromosome 11, 71906467: 71906467
11 FOLR1 NM_016725.2(FOLR1): c.261C> T (p.Asn87=) single nucleotide variant Conflicting interpretations of pathogenicity rs375444839 GRCh37 Chromosome 11, 71906407: 71906407
12 FOLR1 NM_016725.2(FOLR1): c.261C> T (p.Asn87=) single nucleotide variant Conflicting interpretations of pathogenicity rs375444839 GRCh38 Chromosome 11, 72195363: 72195363
13 FOLR1 NM_016725.2(FOLR1): c.157T> C (p.Leu53=) single nucleotide variant Conflicting interpretations of pathogenicity rs143413500 GRCh37 Chromosome 11, 71903374: 71903374
14 FOLR1 NM_016725.2(FOLR1): c.157T> C (p.Leu53=) single nucleotide variant Conflicting interpretations of pathogenicity rs143413500 GRCh38 Chromosome 11, 72192330: 72192330
15 FOLR1 NM_016725.2(FOLR1): c.292C> T (p.Arg98Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs76191655 GRCh37 Chromosome 11, 71906438: 71906438
16 FOLR1 NM_016725.2(FOLR1): c.292C> T (p.Arg98Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs76191655 GRCh38 Chromosome 11, 72195394: 72195394
17 FOLR1 NM_016725.2(FOLR1): c.719C> T (p.Ala240Val) single nucleotide variant Uncertain significance rs147155003 GRCh37 Chromosome 11, 71907166: 71907166
18 FOLR1 NM_016725.2(FOLR1): c.719C> T (p.Ala240Val) single nucleotide variant Uncertain significance rs147155003 GRCh38 Chromosome 11, 72196122: 72196122
19 FOLR1 NM_016725.2(FOLR1): c.510A> G (p.Ala170=) single nucleotide variant Conflicting interpretations of pathogenicity rs564331848 GRCh37 Chromosome 11, 71906957: 71906957
20 FOLR1 NM_016725.2(FOLR1): c.510A> G (p.Ala170=) single nucleotide variant Conflicting interpretations of pathogenicity rs564331848 GRCh38 Chromosome 11, 72195913: 72195913
21 FOLR1 NM_016725.2(FOLR1): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139633601 GRCh38 Chromosome 11, 72195911: 72195911
22 FOLR1 NM_016725.2(FOLR1): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139633601 GRCh37 Chromosome 11, 71906955: 71906955
23 FOLR1 NM_016725.2(FOLR1): c.724T> A (p.Trp242Arg) single nucleotide variant Uncertain significance rs796052445 GRCh38 Chromosome 11, 72196127: 72196127
24 FOLR1 NM_016725.2(FOLR1): c.724T> A (p.Trp242Arg) single nucleotide variant Uncertain significance rs796052445 GRCh37 Chromosome 11, 71907171: 71907171
25 FOLR1 NM_016725.2(FOLR1): c.-122C> G single nucleotide variant Uncertain significance rs886048641 GRCh38 Chromosome 11, 72189646: 72189646
26 FOLR1 NM_016725.2(FOLR1): c.-122C> G single nucleotide variant Uncertain significance rs886048641 GRCh37 Chromosome 11, 71900690: 71900690
27 FOLR1 NM_016725.2(FOLR1): c.588C> T (p.Ser196=) single nucleotide variant Conflicting interpretations of pathogenicity rs755278391 GRCh38 Chromosome 11, 72195991: 72195991
28 FOLR1 NM_016725.2(FOLR1): c.588C> T (p.Ser196=) single nucleotide variant Conflicting interpretations of pathogenicity rs755278391 GRCh37 Chromosome 11, 71907035: 71907035
29 FOLR1 NM_016725.2(FOLR1): c.168+3G> A single nucleotide variant Uncertain significance rs886048642 GRCh37 Chromosome 11, 71903388: 71903388
30 FOLR1 NM_016725.2(FOLR1): c.168+3G> A single nucleotide variant Uncertain significance rs886048642 GRCh38 Chromosome 11, 72192344: 72192344
31 FOLR1 NM_016724.2(FOLR1): c.*26_*42del17insG indel Uncertain significance rs886048643 GRCh38 Chromosome 11, 72196203: 72196219
32 FOLR1 NM_016724.2(FOLR1): c.*26_*42del17insG indel Uncertain significance rs886048643 GRCh37 Chromosome 11, 71907247: 71907263
33 FOLR1 NM_016725.2(FOLR1): c.-8-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375060832 GRCh38 Chromosome 11, 72192160: 72192160
34 FOLR1 NM_016725.2(FOLR1): c.-8-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375060832 GRCh37 Chromosome 11, 71903204: 71903204
35 FOLR1 NM_016725.2(FOLR1): c.*122A> G single nucleotide variant Uncertain significance rs886048644 GRCh38 Chromosome 11, 72196299: 72196299
36 FOLR1 NM_016725.2(FOLR1): c.*122A> G single nucleotide variant Uncertain significance rs886048644 GRCh37 Chromosome 11, 71907343: 71907343
37 FOLR1 NM_016725.2(FOLR1): c.81A> C (p.Ala27=) single nucleotide variant Likely benign rs1057520285 GRCh37 Chromosome 11, 71903298: 71903298
38 FOLR1 NM_016725.2(FOLR1): c.81A> C (p.Ala27=) single nucleotide variant Likely benign rs1057520285 GRCh38 Chromosome 11, 72192254: 72192254
39 FOLR1 NM_016725.2(FOLR1): c.103A> G (p.Asn35Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs149216939 GRCh37 Chromosome 11, 71903320: 71903320
40 FOLR1 NM_016725.2(FOLR1): c.103A> G (p.Asn35Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs149216939 GRCh38 Chromosome 11, 72192276: 72192276
41 FOLR1 NM_016725.2(FOLR1): c.169-8C> A single nucleotide variant Likely benign rs1221189280 GRCh37 Chromosome 11, 71906307: 71906307
42 FOLR1 NM_016725.2(FOLR1): c.169-8C> A single nucleotide variant Likely benign rs1221189280 GRCh38 Chromosome 11, 72195263: 72195263
43 FOLR1 NM_016725.2(FOLR1): c.257G> A (p.Trp86Ter) single nucleotide variant Pathogenic rs1555069069 GRCh37 Chromosome 11, 71906403: 71906403
44 FOLR1 NM_016725.2(FOLR1): c.257G> A (p.Trp86Ter) single nucleotide variant Pathogenic rs1555069069 GRCh38 Chromosome 11, 72195359: 72195359
45 FOLR1 NM_016725.2(FOLR1): c.726G> A (p.Trp242Ter) single nucleotide variant Uncertain significance rs752932113 GRCh38 Chromosome 11, 72196129: 72196129
46 FOLR1 NM_016725.2(FOLR1): c.726G> A (p.Trp242Ter) single nucleotide variant Uncertain significance rs752932113 GRCh37 Chromosome 11, 71907173: 71907173
47 FOLR1 NM_016725.2(FOLR1): c.642C> T (p.Phe214=) single nucleotide variant Likely benign rs868478657 GRCh38 Chromosome 11, 72196045: 72196045
48 FOLR1 NM_016725.2(FOLR1): c.642C> T (p.Phe214=) single nucleotide variant Likely benign rs868478657 GRCh37 Chromosome 11, 71907089: 71907089
49 FOLR1 NM_016725.2(FOLR1): c.692C> T (p.Ala231Val) single nucleotide variant Uncertain significance rs1555069289 GRCh37 Chromosome 11, 71907139: 71907139
50 FOLR1 NM_016725.2(FOLR1): c.692C> T (p.Ala231Val) single nucleotide variant Uncertain significance rs1555069289 GRCh38 Chromosome 11, 72196095: 72196095

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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