CMT1F
MCID: CHR656
MIFTS: 36

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f (CMT1F)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 58 54 30 6 74
Charcot-Marie-Tooth Disease Type 1f 12 54 60 15
Cmt1f 58 12 60 76
Charcot-Marie-Tooth Neuropathy Type 1f 12 76
Charcot-Marie-Tooth Disease, Type 1f 58 13
Severe Early-Onset Axonal Neuropathy Due to Light Neurofilament Subunit Deficiency 60
Severe Early-Onset Axonal Neuropathy Due to Nefl Deficiency 60
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 60
Charcot-Marie-Tooth Disease Demyelinating Type 1f 76
Charcot-Marie-Tooth Neuropathy, Type 1f 58
Charcot-Marie-Tooth Disease Type 2b5 60
Charcot-Marie-Tooth Disease, Type if 41
Charcot Marie Tooth Disease Type 1f 54
Charcot-Marie-Tooth Disease 1f 76
Seoan Due to Nefl Deficiency 60
Ar-Cmt2b5 60
Cmt 1f 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 2b5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
charcot-marie-tooth disease type 1f
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
onset in infancy or childhood (range 1 to 13 years)
autosomal recessive inheritance has been described in 2 families
genetic heterogeneity (see cmt1b )


HPO:

33
charcot-marie-tooth disease, demyelinating, type 1f:
Onset and clinical course variable expressivity juvenile onset
Inheritance heterogeneous autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110149
OMIM 58 607734
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1843164
MedGen 43 C1843164
UMLS 74 C1843164

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 1F: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years).

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1f, also known as charcot-marie-tooth disease type 1f, is related to charcot-marie-tooth disease and deafness and charcot-marie-tooth disease, axonal, type 2f. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1f is NEFL (Neurofilament Light), and among its related pathways/superpathways is Neural Crest Differentiation. Related phenotypes are pes cavus and decreased motor nerve conduction velocity

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in mutation in the NEFL gene.

Description from OMIM: 607734

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 31.0 GJB1 MPZ PMP22
2 charcot-marie-tooth disease, axonal, type 2f 9.9 GJB1 MPZ
3 hereditary motor and sensory neuropathy, type iic 9.9 GJB1 MPZ
4 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 GJB1 MPZ
5 autoimmune peripheral neuropathy 9.9 GJB1 MPZ
6 amyotrophic neuralgia 9.8 GJB1 PMP22
7 congenital hypomyelination neuropathy 9.8 MPZ PMP22
8 charcot-marie-tooth hereditary neuropathy 9.8 MPZ PMP22
9 foot drop 9.8 MPZ PMP22
10 roussy-levy hereditary areflexic dystasia 9.8 MPZ PMP22
11 chronic inflammatory demyelinating polyradiculoneuropathy 9.8 MPZ PMP22
12 polyradiculoneuropathy 9.7 MPZ PMP22
13 pelizaeus-merzbacher disease 9.7 MPZ PMP22
14 guillain-barre syndrome 9.7 MPZ PMP22
15 neuritis 9.6 MPZ PMP22
16 neuromuscular disease 9.6 MPZ PMP22
17 charcot-marie-tooth disease, axonal, type 2d 9.5 GJB1 MPZ PMP22
18 charcot-marie-tooth disease, x-linked dominant, 1 9.5 GJB1 MPZ PMP22
19 charcot-marie-tooth disease, demyelinating, type 1b 9.5 GJB1 MPZ PMP22
20 charcot-marie-tooth disease, axonal, type 2b 9.5 GJB1 MPZ PMP22
21 motor peripheral neuropathy 9.5 GJB1 MPZ PMP22
22 neuropathy 9.5 GJB1 MPZ PMP22
23 charcot-marie-tooth disease, demyelinating, type 1a 9.5 GJB1 MPZ PMP22
24 charcot-marie-tooth disease, demyelinating, type 1d 9.5 GJB1 MPZ PMP22
25 neuropathy, hereditary, with liability to pressure palsies 9.5 GJB1 MPZ PMP22
26 hypertrophic neuropathy of dejerine-sottas 9.5 GJB1 MPZ PMP22
27 sensory peripheral neuropathy 9.5 GJB1 MPZ PMP22
28 polyneuropathy 9.4 MPZ PMP22
29 charcot-marie-tooth disease 9.2 GJB1 MPZ NEFL PMP22
30 tooth disease 9.2 GJB1 MPZ NEFL PMP22
31 charcot-marie-tooth disease, demyelinating, type 1c 9.2 GJB1 MPZ NEFL PMP22
32 peripheral nervous system disease 9.2 GJB1 MPZ NEFL PMP22
33 charcot-marie-tooth disease, axonal, type 2e 9.2 GJB1 MPZ NEFL PMP22

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 decreased motor nerve conduction velocity 33 HP:0003431
3 motor delay 33 HP:0001270
4 areflexia 33 HP:0001284
5 hyporeflexia 33 HP:0001265
6 distal muscle weakness 33 HP:0002460
7 distal amyotrophy 33 HP:0003693
8 segmental peripheral demyelination/remyelination 33 HP:0003481
9 distal sensory impairment 33 HP:0002936
10 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
11 onion bulb formation 33 HP:0003383
12 clusters of axonal regeneration 33 HP:0007233
13 myelin outfoldings 33 HP:0004336

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
delayed motor development
distal limb muscle weakness due to peripheral neuropathy
more

Clinical features from OMIM:

607734

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 GJB1 MPZ NEFL PMP22
2 nervous system MP:0003631 8.92 GJB1 MPZ NEFL PMP22

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 30 NEFL

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

# Title Authors Year
1
Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology. ( 27458838 )
2016
2
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. ( 20039262 )
2009
3
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. ( 19158810 )
2009
4
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. ( 17620486 )
2007
5
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. ( 17881652 )
2007
6
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan. ( 14586770 )
2004
7
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. ( 15282209 )
2004
8
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. ( 12566280 )
2003
9
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. ( 11220745 )
2001

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

76
# Symbol AA change Variation ID SNP ID
1 NEFL p.Pro8Leu VAR_016018 rs61491953
2 NEFL p.Pro8Gln VAR_016019 rs61491953
3 NEFL p.Pro8Arg VAR_016020 rs60261494
4 NEFL p.Glu90Lys VAR_016022 rs58332872
5 NEFL p.Asn98Ser VAR_016023 rs58982919

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEFL NM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg) indel Pathogenic rs60261494 GRCh37 Chromosome 8, 24814007: 24814008
2 NEFL NM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg) indel Pathogenic rs60261494 GRCh38 Chromosome 8, 24956493: 24956494
3 NEFL NM_006158.4(NEFL): c.418G> T (p.Glu140Ter) single nucleotide variant Pathogenic rs121913663 GRCh37 Chromosome 8, 24813612: 24813612
4 NEFL NM_006158.4(NEFL): c.418G> T (p.Glu140Ter) single nucleotide variant Pathogenic rs121913663 GRCh38 Chromosome 8, 24956098: 24956098
5 NEFL NM_006158.4(NEFL): c.628G> T (p.Glu210Ter) single nucleotide variant Pathogenic rs199422214 GRCh37 Chromosome 8, 24813402: 24813402
6 NEFL NM_006158.4(NEFL): c.628G> T (p.Glu210Ter) single nucleotide variant Pathogenic rs199422214 GRCh38 Chromosome 8, 24955888: 24955888
7 NEFL NM_006158.4(NEFL): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic rs58982919 GRCh37 Chromosome 8, 24813737: 24813737
8 NEFL NM_006158.4(NEFL): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic rs58982919 GRCh38 Chromosome 8, 24956223: 24956223
9 NEFL NM_006158.4(NEFL): c.446C> T (p.Ala149Val) single nucleotide variant Pathogenic rs59101996 GRCh37 Chromosome 8, 24813584: 24813584
10 NEFL NM_006158.4(NEFL): c.446C> T (p.Ala149Val) single nucleotide variant Pathogenic rs59101996 GRCh38 Chromosome 8, 24956070: 24956070
11 NEFL NM_006158.4(NEFL): c.64C> A (p.Pro22Thr) single nucleotide variant Pathogenic rs28928910 GRCh37 Chromosome 8, 24813966: 24813966
12 NEFL NM_006158.4(NEFL): c.64C> A (p.Pro22Thr) single nucleotide variant Pathogenic rs28928910 GRCh38 Chromosome 8, 24956452: 24956452
13 NEFL NM_006158.4(NEFL): c.65C> G (p.Pro22Arg) single nucleotide variant Pathogenic rs267607538 GRCh37 Chromosome 8, 24813965: 24813965
14 NEFL NM_006158.4(NEFL): c.65C> G (p.Pro22Arg) single nucleotide variant Pathogenic rs267607538 GRCh38 Chromosome 8, 24956451: 24956451
15 NEFL NM_006158.4(NEFL): c.1579_1581delGAG (p.Glu527del) deletion Benign rs3832558 GRCh37 Chromosome 8, 24810374: 24810376
16 NEFL NM_006158.4(NEFL): c.1579_1581delGAG (p.Glu527del) deletion Benign rs3832558 GRCh38 Chromosome 8, 24952861: 24952863
17 NEFL NM_006158.4(NEFL): c.1610A> G (p.Gln537Arg) single nucleotide variant Uncertain significance rs377121179 GRCh37 Chromosome 8, 24810345: 24810345
18 NEFL NM_006158.4(NEFL): c.1610A> G (p.Gln537Arg) single nucleotide variant Uncertain significance rs377121179 GRCh38 Chromosome 8, 24952832: 24952832
19 NEFL NM_006158.4(NEFL): c.986T> C (p.Leu329Pro) single nucleotide variant Uncertain significance rs876661290 GRCh37 Chromosome 8, 24813044: 24813044
20 NEFL NM_006158.4(NEFL): c.986T> C (p.Leu329Pro) single nucleotide variant Uncertain significance rs876661290 GRCh38 Chromosome 8, 24955530: 24955530

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.32 MPZ

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 8.96 MPZ PMP22
2 myelination GO:0042552 8.62 MPZ PMP22

Molecular functions related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.62 MPZ NEFL

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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