NCFTD
MCID: NRD004
MIFTS: 39

Neurodegeneration Due to Cerebral Folate Transport Deficiency (NCFTD)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodegeneration Due to Cerebral Folate Transport Deficiency

MalaCards integrated aliases for Neurodegeneration Due to Cerebral Folate Transport Deficiency:

Name: Neurodegeneration Due to Cerebral Folate Transport Deficiency 56 52 25 73 36 13
Cerebral Folate Deficiency 52 25 29 6
Cerebral Folate Transport Deficiency 52 25
Neurodegenerative Syndrome Due to Cerebral Folate Transport Deficiency 58
Cerebral Folate Deficiency Syndrome 52
Folr1 Deficiency 25
Ncftd 73

Characteristics:

Orphanet epidemiological data:

58
neurodegenerative syndrome due to cerebral folate transport deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset beyond the second year of life
three patients have been reported (as of october 2009)
treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects


HPO:

31
neurodegeneration due to cerebral folate transport deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 613068
KEGG 36 H01295
MeSH 43 D019636
ICD10 via Orphanet 33 G31.8
UMLS via Orphanet 72 C2751584
Orphanet 58 ORPHA217382
MedGen 41 C2751584

Summaries for Neurodegeneration Due to Cerebral Folate Transport 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 : Neurodegeneration Due to Cerebral Folate Transport Deficiency, also known as cerebral folate deficiency, is related to megaloblastic anemia due to dihydrofolate reductase deficiency and ataxia and polyneuropathy, adult-onset, and has symptoms including seizures An important gene associated with Neurodegeneration Due to Cerebral Folate Transport Deficiency is FOLR1 (Folate Receptor Alpha), and among its related pathways/superpathways is Endocytosis. The drugs Levoleucovorin and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and testes, and related phenotypes are intellectual disability and developmental regression

OMIM : 56 This is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function (Steinfeld et al., 2009). (613068)

KEGG : 36 Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder of brain specific folate deficiency, characterized by severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Folate-receptor alpha (FOLR1) is of central importance for folate transport across the blood brain barrier via the choroid plexus. It has been reported that mutations in FOLR1 cause this disease. Folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.

UniProtKB/Swiss-Prot : 73 Neurodegeneration due to cerebral folate transport deficiency: A neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy.

Wikipedia : 74 Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in... more...

Related Diseases for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Diseases related to Neurodegeneration Due to Cerebral Folate Transport Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia due to dihydrofolate reductase deficiency 11.8
2 ataxia and polyneuropathy, adult-onset 10.3
3 mitochondrial disorders 10.3
4 kearns-sayre syndrome 10.2
5 autism 10.2
6 rett syndrome 10.2
7 visual epilepsy 10.2
8 seizure disorder 10.2
9 autism spectrum disorder 10.1
10 spasticity 10.1
11 basal ganglia calcification 10.1
12 leukodystrophy 10.1
13 peripheral nervous system disease 10.1
14 neuropathy 10.1
15 head injury 10.1
16 epilepsy, pyridoxine-dependent 10.0
17 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
18 sensorineural hearing loss 10.0
19 megaloblastic anemia 10.0
20 status epilepticus 10.0
21 movement disease 10.0
22 paraplegia 10.0
23 mitochondrial metabolism disease 10.0
24 slc6a3-related dopamine transporter deficiency syndrome 10.0
25 encephalopathy 10.0
26 hypotonia 10.0
27 early myoclonic encephalopathy 10.0
28 neural tube defects 9.9
29 mitochondrial dna depletion syndrome 4a 9.9
30 folate malabsorption, hereditary 9.9
31 ocular motor apraxia 9.9
32 hyperphenylalaninemia, bh4-deficient, c 9.9
33 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
34 yemenite deaf-blind hypopigmentation syndrome 9.9
35 phosphoglycerate dehydrogenase deficiency 9.9
36 branchiootic syndrome 1 9.9
37 deafness, congenital, with inner ear agenesis, microtia, and microdontia 9.9
38 alacrima, achalasia, and mental retardation syndrome 9.9
39 deficiency anemia 9.9
40 west syndrome 9.9
41 serine deficiency 9.9
42 autosomal recessive disease 9.9
43 mitochondrial dna depletion syndrome 9.9
44 spastic diplegia 9.9
45 cortical blindness 9.9
46 hepatic coma 9.9
47 hepatic encephalopathy 9.9
48 polyneuropathy 9.9
49 childhood absence epilepsy 9.9
50 mutism 9.9

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



Diseases related to Neurodegeneration Due to Cerebral Folate Transport Deficiency

Symptoms & Phenotypes for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Human phenotypes related to Neurodegeneration Due to Cerebral Folate Transport Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 developmental regression 31 HP:0002376
3 neurodegeneration 31 HP:0002180
4 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
neurodegeneration
motor dysfunction
mental retardation (if untreated)
developmental regression, severe
more
Laboratory Abnormalities:
decreased csf methyltetrahydrofolate (mthf)

Clinical features from OMIM:

613068

UMLS symptoms related to Neurodegeneration Due to Cerebral Folate Transport Deficiency:


seizures

Drugs & Therapeutics for Neurodegeneration Due to Cerebral Folate Transport Deficiency

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
2
leucovorin Approved Phase 2 58-05-9 6006 143
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
4 Micronutrients Phase 2
5 Vitamins Phase 2
6 Trace Elements Phase 2
7 Antidotes Phase 2
8 Vitamin B Complex Phase 2
9 Hematinics Phase 2
10 Folate Phase 2
11 Protective Agents Phase 2
12 Tin Fluorides Phase 2
13 Nutrients Phase 2
14 Autoantibodies Phase 2
15 Vitamin B9 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Folinic Acid Intervention for ASD: Links to Folate Receptor-alpha Autoimmunity & Redox Metabolism Terminated NCT01602016 Phase 2 Folinic Acid and placebo;Folinic Acid

Search NIH Clinical Center for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Genetic Tests for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Genetic tests related to Neurodegeneration Due to Cerebral Folate Transport Deficiency:

# Genetic test Affiliating Genes
1 Cerebral Folate Deficiency 29 FOLR1

Anatomical Context for Neurodegeneration Due to Cerebral Folate Transport Deficiency

MalaCards organs/tissues related to Neurodegeneration Due to Cerebral Folate Transport Deficiency:

40
Brain, Cerebellum, Testes

Publications for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Articles related to Neurodegeneration Due to Cerebral Folate Transport Deficiency:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 56 6
19732866 2009
2
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
4
Neuroimaging Spectrum of Inherited Neurotransmitter Disorders. 61
31634934 2020
5
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform. 61
31930732 2020
6
Cerebral folate deficiency: Analytical tests and differential diagnosis. 61
30916789 2019
7
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency. 61
30383884 2019
8
Complex heterozygous polymerase gamma mutation and cerebral folate deficiency in a child with refractory partial status. 61
30860128 2019
9
Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition. 61
30448717 2019
10
Targeted Biomedical Treatment for Autism Spectrum Disorders. 61
31801452 2019
11
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. 61
29974349 2018
12
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. 61
30031689 2018
13
Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome. 61
29661558 2018
14
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy. 61
29899766 2018
15
Regulation of Reduced Folate Carrier (RFC) by Vitamin D Receptor at the Blood-Brain Barrier. 61
28885847 2017
16
Prevention of behavioral deficits in rats exposed to folate receptor antibodies: implication in autism. 61
27646260 2017
17
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. 61
28339176 2017
18
[Novel therapies in neurometabolic diseases: the importance of early intervention]. 61
28524215 2017
19
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. 61
28054128 2017
20
Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency. 61
27743887 2017
21
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. 61
27664775 2017
22
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior. 61
27523499 2017
23
KBG syndrome involving a single-nucleotide duplication in ANKRD11. 61
27900361 2016
24
The metabolic basis for developmental disorders due to defective folate transport. 61
26924398 2016
25
The basis for folinic acid treatment in neuro-psychiatric disorders. 61
27068282 2016
26
Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency. 61
27378809 2016
27
Epilepsy in KCNH1-related syndromes. 61
27267311 2016
28
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. 61
27178705 2016
29
Amenable Treatable Severe Pediatric Epilepsies. 61
27544473 2016
30
Electrographic status epilepticus in sleep in an adult with cerebral folate deficiency. 61
26918205 2016
31
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings. 61
27066576 2016
32
Folate receptor autoantibodies in pregnancy related complications. 61
26390016 2015
33
Can folic acid have a role in mitochondrial disorders? 61
26183769 2015
34
Total folate and 5-methyltetrahydrofolate in the cerebrospinal fluid of children: correlation and reference values. 61
25941913 2015
35
Rasmussen Syndrome and Other Inflammatory Epilepsies. 61
26060905 2015
36
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency. 61
26006721 2015
37
Clinical, etiological and therapeutic aspects of cerebral folate deficiency. 61
26092490 2015
38
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. 61
25539952 2014
39
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. 61
25274592 2014
40
[Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy]. 61
24461181 2014
41
Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors. 61
23506878 2013
42
Clinical recognition and aspects of the cerebral folate deficiency syndromes. 61
23314536 2013
43
Cerebral folate receptor autoantibodies in autism spectrum disorder. 61
22230883 2013
44
The diagnostic utility of folate receptor autoantibodies in blood. 61
23314538 2013
45
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. 61
22835503 2012
46
A new form of cerebral folate deficiency with severe self-injurious behaviour. 61
22861007 2012
47
[Diagnosis and treatment of cerebral folate deficiency]. 61
23302625 2012
48
Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency. 61
22749608 2012
49
Cerebral folate deficiency--mishaps and misdirection. 61
22734130 2012
50
Update and new concepts in vitamin responsive disorders of folate transport and metabolism. 61
22108709 2012

Variations for Neurodegeneration Due to Cerebral Folate Transport Deficiency

ClinVar genetic disease variations for Neurodegeneration Due to Cerebral Folate Transport Deficiency:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOLR1 NM_016729.3(FOLR1):c.257G>A (p.Trp86Ter)SNV Pathogenic 470723 rs1555069069 11:71906403-71906403 11:72195359-72195359
2 FOLR1 NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)SNV Pathogenic 16255 rs121918405 11:71906498-71906498 11:72195454-72195454
3 FOLR1 NM_016729.3(FOLR1):c.525C>A (p.Cys175Ter)SNV Pathogenic 16256 rs121918406 11:71906972-71906972 11:72195928-72195928
4 FOLR1 FOLR1, 18-BP DUP, NT130duplication Pathogenic 16257
5 FOLR1 FOLR1, SPLICE SITE MUTATIONSNV Pathogenic 36930
6 FOLR1 NM_016729.3(FOLR1):c.610C>T (p.Arg204Ter)SNV Likely pathogenic 429907 rs952165627 11:71907057-71907057 11:72196013-72196013
7 FOLR1 NM_016729.3(FOLR1):c.493+2T>CSNV Conflicting interpretations of pathogenicity 95750 rs144637717 11:71906793-71906793 11:72195749-72195749
8 FOLR1 NM_016729.3(FOLR1):c.261C>T (p.Asn87=)SNV Conflicting interpretations of pathogenicity 167083 rs375444839 11:71906407-71906407 11:72195363-72195363
9 FOLR1 NM_016729.3(FOLR1):c.157T>C (p.Leu53=)SNV Conflicting interpretations of pathogenicity 195316 rs143413500 11:71903374-71903374 11:72192330-72192330
10 FOLR1 NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)SNV Conflicting interpretations of pathogenicity 196475 rs148345688 11:71906361-71906361 11:72195317-72195317
11 FOLR1 NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)SNV Conflicting interpretations of pathogenicity 196476 rs76191655 11:71906438-71906438 11:72195394-72195394
12 FOLR1 NM_016729.3(FOLR1):c.510A>G (p.Ala170=)SNV Conflicting interpretations of pathogenicity 197831 rs564331848 11:71906957-71906957 11:72195913-72195913
13 FOLR1 NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)SNV Conflicting interpretations of pathogenicity 205460 rs139633601 11:71906955-71906955 11:72195911-72195911
14 FOLR1 NM_016729.3(FOLR1):c.-14C>TSNV Conflicting interpretations of pathogenicity 306023 rs375060832 11:71903204-71903204 11:72192160-72192160
15 FOLR1 NM_016729.3(FOLR1):c.588C>T (p.Ser196=)SNV Conflicting interpretations of pathogenicity 306025 rs755278391 11:71907035-71907035 11:72195991-72195991
16 FOLR1 NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp)SNV Conflicting interpretations of pathogenicity 418217 rs149216939 11:71903320-71903320 11:72192276-72192276
17 FOLR1 NM_016729.3(FOLR1):c.57A>G (p.Val19=)SNV Conflicting interpretations of pathogenicity 377890 rs769589754 11:71903274-71903274 11:72192230-72192230
18 FOLR1 NM_016729.3(FOLR1):c.168+3G>ASNV Uncertain significance 306024 rs886048642 11:71903388-71903388 11:72192344-72192344
19 FOLR1 NM_016729.3(FOLR1):c.*26_*42delinsGindel Uncertain significance 306026 rs886048643 11:71907247-71907263 11:72196203-72196219
20 FOLR1 NM_016729.3(FOLR1):c.*122A>GSNV Uncertain significance 306027 rs886048644 11:71907343-71907343 11:72196299-72196299
21 FOLR1 NM_016729.3(FOLR1):c.611G>A (p.Arg204Gln)SNV Uncertain significance 205456 rs377725668 11:71907058-71907058 11:72196014-72196014
22 FOLR1 NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg)SNV Uncertain significance 205459 rs796052445 11:71907171-71907171 11:72196127-72196127
23 FOLR1 NM_016725.2(FOLR1):c.-122C>GSNV Uncertain significance 306022 rs886048641 11:71900690-71900690 11:72189646-72189646
24 FOLR1 NM_016729.3(FOLR1):c.13A>G (p.Met5Val)SNV Uncertain significance 205452 rs371565364 11:71903230-71903230 11:72192186-72192186
25 FOLR1 NM_016729.3(FOLR1):c.692C>T (p.Ala231Val)SNV Uncertain significance 470726 rs1555069289 11:71907139-71907139 11:72196095-72196095
26 FOLR1 NM_016729.3(FOLR1):c.719C>T (p.Ala240Val)SNV Uncertain significance 197830 rs147155003 11:71907166-71907166 11:72196122-72196122
27 FOLR1 NM_016729.3(FOLR1):c.726G>A (p.Trp242Ter)SNV Uncertain significance 470727 rs752932113 11:71907173-71907173 11:72196129-72196129
28 FOLR1 NM_016729.3(FOLR1):c.139C>G (p.Pro47Ala)SNV Uncertain significance 538169 rs1555068662 11:71903356-71903356 11:72192312-72192312
29 FOLR1 NM_016729.3(FOLR1):c.623G>A (p.Arg208His)SNV Uncertain significance 575319 rs145250531 11:71907070-71907070 11:72196026-72196026
30 FOLR1 NM_016729.3(FOLR1):c.293G>A (p.Arg98Gln)SNV Uncertain significance 580422 rs764420714 11:71906439-71906439 11:72195395-72195395
31 FOLR1 NM_016729.3(FOLR1):c.451A>G (p.Thr151Ala)SNV Uncertain significance 578648 rs765019885 11:71906749-71906749 11:72195705-72195705
32 FOLR1 NM_016729.3(FOLR1):c.667G>A (p.Glu223Lys)SNV Uncertain significance 578292 rs1565365932 11:71907114-71907114 11:72196070-72196070
33 FOLR1 NM_016729.3(FOLR1):c.440G>A (p.Arg147His)SNV Uncertain significance 665752 11:71906738-71906738 11:72195694-72195694
34 FOLR1 NM_016729.3(FOLR1):c.465_466delinsTG (p.Trp156Gly)indel Uncertain significance 639442 11:71906763-71906764 11:72195719-72195720
35 FOLR1 NM_016729.3(FOLR1):c.71C>T (p.Thr24Ile)SNV Uncertain significance 660479 11:71903288-71903288 11:72192244-72192244
36 FOLR1 NM_016729.3(FOLR1):c.224A>G (p.His75Arg)SNV Uncertain significance 658632 11:71906370-71906370 11:72195326-72195326
37 FOLR1 NM_016729.3(FOLR1):c.322G>C (p.Glu108Gln)SNV Uncertain significance 646570 11:71906468-71906468 11:72195424-72195424
38 FOLR1 NM_016729.3(FOLR1):c.503A>G (p.Lys168Arg)SNV Uncertain significance 648824 11:71906950-71906950 11:72195906-72195906
39 FOLR1 NM_016729.3(FOLR1):c.704G>A (p.Gly235Glu)SNV Uncertain significance 651960 11:71907151-71907151 11:72196107-72196107
40 covers 18 genes, none of which curated to show dosage sensitivity NC_000011.9:g.(?_71146401)_(71907241_?)dupduplication Uncertain significance 830767 11:71146401-71907241
41 FOLR1 NM_016729.3(FOLR1):c.123G>C (p.Lys41Asn)SNV Uncertain significance 852887 11:71903340-71903340 11:72192296-72192296
42 FOLR1 NM_016729.3(FOLR1):c.173G>A (p.Arg58Gln)SNV Uncertain significance 851223 11:71906319-71906319 11:72195275-72195275
43 FOLR1 NM_016729.3(FOLR1):c.232G>A (p.Val78Ile)SNV Uncertain significance 855735 11:71906378-71906378 11:72195334-72195334
44 FOLR1 NM_016729.3(FOLR1):c.383G>A (p.Arg128Gln)SNV Uncertain significance 849264 11:71906681-71906681 11:72195637-72195637
45 FOLR1 NM_016729.3(FOLR1):c.357+6C>ASNV Uncertain significance 834462 11:71906509-71906509 11:72195465-72195465
46 FOLR1 NM_016724.3(FOLR1):c.-93G>ASNV Uncertain significance 881436 11:71900785-71900785 11:72189741-72189741
47 FOLR1 NM_016729.3(FOLR1):c.678G>A (p.Ala226=)SNV Uncertain significance 883044 11:71907125-71907125 11:72196081-72196081
48 FOLR1 NM_016729.3(FOLR1):c.54A>T (p.Val18=)SNV Likely benign 766418 11:71903271-71903271 11:72192227-72192227
49 FOLR1 NM_016729.3(FOLR1):c.147C>T (p.Pro49=)SNV Likely benign 761181 11:71903364-71903364 11:72192320-72192320
50 FOLR1 NM_016729.3(FOLR1):c.642C>T (p.Phe214=)SNV Likely benign 470725 rs868478657 11:71907089-71907089 11:72196045-72196045

Expression for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Search GEO for disease gene expression data for Neurodegeneration Due to Cerebral Folate Transport Deficiency.

Pathways for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Pathways related to Neurodegeneration Due to Cerebral Folate Transport Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Endocytosis hsa04144

GO Terms for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Sources for Neurodegeneration Due to Cerebral Folate Transport Deficiency

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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44 MESH via Orphanet
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61 PubMed
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