MCID: CRB070
MIFTS: 29

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 53 25 29 6 40
Neurodegeneration Due to Cerebral Folate Transport Deficiency 53 25 73
Cerebral Folate Transport Deficiency 53 25
Cerebral Folate Deficiency Syndrome 53
Folr1 Deficiency 25

Classifications:



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UMLS 73 C2751584

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 Folate Metabolism 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 29 FOLR1

Anatomical Context for Cerebral Folate Deficiency

MalaCards organs/tissues related to Cerebral Folate Deficiency:

41
Brain, Cerebellum

Publications for Cerebral Folate Deficiency

Articles related to Cerebral Folate Deficiency:

(show all 37)
# Title Authors Year
1
Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome. ( 29661558 )
2018
2
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. ( 28054128 )
2017
3
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
4
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings. ( 27066576 )
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
Electrographic status epilepticus in sleep in an adult with cerebral folate deficiency. ( 26918205 )
2016
8
Clinical, etiological and therapeutic aspects of cerebral folate deficiency. ( 26092490 )
2015
9
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. ( 25274592 )
2014
10
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
11
Clinical recognition and aspects of the cerebral folate deficiency syndromes. ( 23314536 )
2013
12
A new form of cerebral folate deficiency with severe self-injurious behaviour. ( 22861007 )
2012
13
Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency. ( 22749608 )
2012
14
Cerebral folate deficiency--mishaps and misdirection. ( 22734130 )
2012
15
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. ( 22835503 )
2012
16
Adult-onset cerebral folate deficiency. ( 22371854 )
2012
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
Cerebral folate deficiency: a neurometabolic syndrome? ( 21737328 )
2011
20
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency. ( 21388369 )
2011
21
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). ( 21752681 )
2011
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
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. ( 20388557 )
2010
26
Cerebral folate deficiency. ( 19260931 )
2009
27
Mitochondrial diseases associated with cerebral folate deficiency. ( 18413591 )
2008
28
Progressive encephalopathy in a child with cerebral folate deficiency syndrome. ( 18854521 )
2008
29
A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome. ( 18355335 )
2008
30
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. ( 18461502 )
2007
31
Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. ( 17202777 )
2007
32
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. ( 16365882 )
2006
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 syndrome. ( 16107634 )
2005
37
Cerebral folate deficiency. ( 15581159 )
2004

Variations for Cerebral Folate Deficiency

ClinVar genetic disease variations for Cerebral Folate Deficiency:

6
(show top 50) (show all 52)
# 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.261C> T (p.Asn87=) single nucleotide variant Conflicting interpretations of pathogenicity rs375444839 GRCh37 Chromosome 11, 71906407: 71906407
8 FOLR1 NM_016725.2(FOLR1): c.261C> T (p.Asn87=) single nucleotide variant Conflicting interpretations of pathogenicity rs375444839 GRCh38 Chromosome 11, 72195363: 72195363
9 FOLR1 NM_016725.2(FOLR1): c.157T> C (p.Leu53=) single nucleotide variant Conflicting interpretations of pathogenicity rs143413500 GRCh37 Chromosome 11, 71903374: 71903374
10 FOLR1 NM_016725.2(FOLR1): c.157T> C (p.Leu53=) single nucleotide variant Conflicting interpretations of pathogenicity rs143413500 GRCh38 Chromosome 11, 72192330: 72192330
11 FOLR1 NM_016725.2(FOLR1): c.292C> T (p.Arg98Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs76191655 GRCh37 Chromosome 11, 71906438: 71906438
12 FOLR1 NM_016725.2(FOLR1): c.292C> T (p.Arg98Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs76191655 GRCh38 Chromosome 11, 72195394: 72195394
13 FOLR1 NM_016725.2(FOLR1): c.719C> T (p.Ala240Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147155003 GRCh37 Chromosome 11, 71907166: 71907166
14 FOLR1 NM_016725.2(FOLR1): c.719C> T (p.Ala240Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147155003 GRCh38 Chromosome 11, 72196122: 72196122
15 FOLR1 NM_016725.2(FOLR1): c.510A> G (p.Ala170=) single nucleotide variant Conflicting interpretations of pathogenicity rs564331848 GRCh37 Chromosome 11, 71906957: 71906957
16 FOLR1 NM_016725.2(FOLR1): c.510A> G (p.Ala170=) single nucleotide variant Conflicting interpretations of pathogenicity rs564331848 GRCh38 Chromosome 11, 72195913: 72195913
17 FOLR1 NM_016725.2(FOLR1): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139633601 GRCh38 Chromosome 11, 72195911: 72195911
18 FOLR1 NM_016725.2(FOLR1): c.508G> A (p.Ala170Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139633601 GRCh37 Chromosome 11, 71906955: 71906955
19 FOLR1 NM_016725.2(FOLR1): c.724T> A (p.Trp242Arg) single nucleotide variant Uncertain significance rs796052445 GRCh38 Chromosome 11, 72196127: 72196127
20 FOLR1 NM_016725.2(FOLR1): c.724T> A (p.Trp242Arg) single nucleotide variant Uncertain significance rs796052445 GRCh37 Chromosome 11, 71907171: 71907171
21 FOLR1 NM_016725.2(FOLR1): c.-122C> G single nucleotide variant Uncertain significance rs886048641 GRCh38 Chromosome 11, 72189646: 72189646
22 FOLR1 NM_016725.2(FOLR1): c.-122C> G single nucleotide variant Uncertain significance rs886048641 GRCh37 Chromosome 11, 71900690: 71900690
23 FOLR1 NM_016725.2(FOLR1): c.588C> T (p.Ser196=) single nucleotide variant Conflicting interpretations of pathogenicity rs755278391 GRCh38 Chromosome 11, 72195991: 72195991
24 FOLR1 NM_016725.2(FOLR1): c.588C> T (p.Ser196=) single nucleotide variant Conflicting interpretations of pathogenicity rs755278391 GRCh37 Chromosome 11, 71907035: 71907035
25 FOLR1 NM_016725.2(FOLR1): c.168+3G> A single nucleotide variant Uncertain significance rs886048642 GRCh38 Chromosome 11, 72192344: 72192344
26 FOLR1 NM_016725.2(FOLR1): c.168+3G> A single nucleotide variant Uncertain significance rs886048642 GRCh37 Chromosome 11, 71903388: 71903388
27 FOLR1 NM_016724.2(FOLR1): c.*26_*42del17insG indel Uncertain significance rs886048643 GRCh38 Chromosome 11, 72196203: 72196219
28 FOLR1 NM_016724.2(FOLR1): c.*26_*42del17insG indel Uncertain significance rs886048643 GRCh37 Chromosome 11, 71907247: 71907263
29 FOLR1 NM_016725.2(FOLR1): c.-8-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375060832 GRCh38 Chromosome 11, 72192160: 72192160
30 FOLR1 NM_016725.2(FOLR1): c.-8-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375060832 GRCh37 Chromosome 11, 71903204: 71903204
31 FOLR1 NM_016725.2(FOLR1): c.*122A> G single nucleotide variant Uncertain significance rs886048644 GRCh38 Chromosome 11, 72196299: 72196299
32 FOLR1 NM_016725.2(FOLR1): c.*122A> G single nucleotide variant Uncertain significance rs886048644 GRCh37 Chromosome 11, 71907343: 71907343
33 FOLR1 NM_016725.2(FOLR1): c.81A> C (p.Ala27=) single nucleotide variant Likely benign rs1057520285 GRCh37 Chromosome 11, 71903298: 71903298
34 FOLR1 NM_016725.2(FOLR1): c.81A> C (p.Ala27=) single nucleotide variant Likely benign rs1057520285 GRCh38 Chromosome 11, 72192254: 72192254
35 FOLR1 NM_016725.2(FOLR1): c.103A> G (p.Asn35Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs149216939 GRCh37 Chromosome 11, 71903320: 71903320
36 FOLR1 NM_016725.2(FOLR1): c.103A> G (p.Asn35Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs149216939 GRCh38 Chromosome 11, 72192276: 72192276
37 FOLR1 NM_016725.2(FOLR1): c.169-8C> A single nucleotide variant Likely benign GRCh37 Chromosome 11, 71906307: 71906307
38 FOLR1 NM_016725.2(FOLR1): c.169-8C> A single nucleotide variant Likely benign GRCh38 Chromosome 11, 72195263: 72195263
39 FOLR1 NM_016725.2(FOLR1): c.257G> A (p.Trp86Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 71906403: 71906403
40 FOLR1 NM_016725.2(FOLR1): c.257G> A (p.Trp86Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 72195359: 72195359
41 FOLR1 NM_016725.2(FOLR1): c.726G> A (p.Trp242Ter) single nucleotide variant Uncertain significance rs752932113 GRCh38 Chromosome 11, 72196129: 72196129
42 FOLR1 NM_016725.2(FOLR1): c.726G> A (p.Trp242Ter) single nucleotide variant Uncertain significance rs752932113 GRCh37 Chromosome 11, 71907173: 71907173
43 FOLR1 NM_016725.2(FOLR1): c.642C> T (p.Phe214=) single nucleotide variant Likely benign rs868478657 GRCh37 Chromosome 11, 71907089: 71907089
44 FOLR1 NM_016725.2(FOLR1): c.642C> T (p.Phe214=) single nucleotide variant Likely benign rs868478657 GRCh38 Chromosome 11, 72196045: 72196045
45 FOLR1 NM_016725.2(FOLR1): c.692C> T (p.Ala231Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 71907139: 71907139
46 FOLR1 NM_016725.2(FOLR1): c.692C> T (p.Ala231Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 72196095: 72196095
47 FOLR1 NM_016725.2(FOLR1): c.168+8delA deletion Likely benign rs762496618 GRCh37 Chromosome 11, 71903393: 71903393
48 FOLR1 NM_016725.2(FOLR1): c.168+8delA deletion Likely benign rs762496618 GRCh38 Chromosome 11, 72192349: 72192349
49 FOLR1 NM_016725.2(FOLR1): c.393C> T (p.Asn131=) single nucleotide variant Likely benign rs61735636 GRCh38 Chromosome 11, 72195647: 72195647
50 FOLR1 NM_016725.2(FOLR1): c.393C> T (p.Asn131=) single nucleotide variant Likely benign rs61735636 GRCh37 Chromosome 11, 71906691: 71906691

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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51 NDF-RT
54 NINDS
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57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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