MCID: NRD004
MIFTS: 18

Neurodegeneration Due to Cerebral Folate Transport Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 57 75 37 13
Neurodegenerative Syndrome Due to Cerebral Folate Transport Deficiency 59
Ncftd 75

Characteristics:

Orphanet epidemiological data:

59
neurodegenerative syndrome due to cerebral folate transport deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
neurodegeneration due to cerebral folate transport deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613068
Orphanet 59 ORPHA217382
ICD10 via Orphanet 34 G31.8
UMLS via Orphanet 74 C2751584
MedGen 42 C2751584
MeSH 44 D019636
KEGG 37 H01295

Summaries for Neurodegeneration Due to Cerebral Folate Transport Deficiency

OMIM : 57 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 1), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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 11.7

Symptoms & Phenotypes for Neurodegeneration Due to Cerebral Folate Transport Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental regression, severe
neurodegeneration
seizures
motor dysfunction
mental retardation (if untreated)
more
Laboratory Abnormalities:
decreased csf methyltetrahydrofolate (mthf)


Clinical features from OMIM:

613068

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

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 neurodegeneration 32 HP:0002180
4 developmental regression 32 HP:0002376

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:

41
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 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 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:

37
# 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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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