NCFTD
MCID: NRD004
MIFTS: 17

Neurodegeneration Due to Cerebral Folate Transport Deficiency (NCFTD)

Categories: 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 58 76 38 13
Neurodegenerative Syndrome Due to Cerebral Folate Transport Deficiency 60
Ncftd 76

Characteristics:

Orphanet epidemiological data:

60
neurodegenerative syndrome due to cerebral folate transport deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
neurodegeneration due to cerebral folate transport deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613068
KEGG 38 H01295
MeSH 45 D019636
ICD10 via Orphanet 35 G31.8
UMLS via Orphanet 75 C2751584
Orphanet 60 ORPHA217382
MedGen 43 C2751584

Summaries for Neurodegeneration Due to Cerebral Folate Transport Deficiency

OMIM : 58 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)

MalaCards based summary : Neurodegeneration Due to Cerebral Folate Transport Deficiency, also known as neurodegenerative syndrome due to cerebral folate transport deficiency, is related to cerebral folate deficiency. 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. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 76 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.

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:

# Related Disease Score Top Affiliating Genes
1 cerebral folate deficiency 11.9

Symptoms & Phenotypes for Neurodegeneration Due to Cerebral Folate Transport Deficiency

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

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 developmental regression 33 HP:0002376
4 neurodegeneration 33 HP:0002180

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Neurodegeneration Due to Cerebral Folate Transport Deficiency

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

Genetic Tests for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Anatomical Context for Neurodegeneration Due to Cerebral Folate Transport Deficiency

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

42
Brain

Publications for Neurodegeneration Due to Cerebral Folate Transport Deficiency

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 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 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:

38
# 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
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10 dbSNP
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75 UMLS via Orphanet
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