MCID: CHR656
MIFTS: 33

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal 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 57 53 29 6 73
Charcot-Marie-Tooth Disease Type 1f 12 53 59 15
Cmt1f 57 12 59 75
Charcot-Marie-Tooth Neuropathy Type 1f 12 75
Charcot-Marie-Tooth Disease, Type 1f 57 13
Severe Early-Onset Axonal Neuropathy Due to Light Neurofilament Subunit Deficiency 59
Severe Early-Onset Axonal Neuropathy Due to Nefl Deficiency 59
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 59
Charcot-Marie-Tooth Disease Demyelinating Type 1f 75
Charcot-Marie-Tooth Neuropathy, Type 1f 57
Charcot-Marie-Tooth Disease Type 2b5 59
Charcot-Marie-Tooth Disease, Type if 40
Charcot Marie Tooth Disease Type 1f 53
Charcot-Marie-Tooth Disease 1f 75
Seoan Due to Nefl Deficiency 59
Ar-Cmt2b5 59
Cmt 1f 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
charcot-marie-tooth disease, demyelinating, type 1f:
Onset and clinical course variable expressivity juvenile onset
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607734
Disease Ontology 12 DOID:0110149
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1843164
MedGen 42 C1843164
MeSH 44 D002607
UMLS 73 C1843164

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

UniProtKB/Swiss-Prot : 75 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 amyotrophic neuralgia. 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 hyporeflexia and motor delay

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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 30.0 GJB1 MPZ PMP22
2 amyotrophic neuralgia 9.9 GJB1 PMP22
3 brachial plexus neuropathy 9.9 GJB1 PMP22
4 charcot-marie-tooth disease, axonal, type 2f 9.7 GJB1 MPZ
5 charcot-marie-tooth disease, x-linked dominant, 1 9.7 GJB1 MPZ
6 hereditary neuropathy with liability to pressure palsy 9.6 MPZ PMP22
7 congenital hypomyelination neuropathy 9.6 MPZ PMP22
8 hereditary motor and sensory neuropathy, type iic 9.6 GJB1 MPZ
9 foot drop 9.6 MPZ PMP22
10 roussy-levy hereditary areflexic dystasia 9.6 MPZ PMP22
11 chronic inflammatory demyelinating polyradiculoneuropathy 9.5 MPZ PMP22
12 polyradiculoneuropathy 9.5 MPZ PMP22
13 pelizaeus-merzbacher disease 9.4 MPZ PMP22
14 guillain-barre syndrome 9.4 MPZ PMP22
15 neuritis 9.4 MPZ PMP22
16 diabetic neuropathy 9.3 MPZ PMP22
17 neuromuscular disease 9.1 MPZ PMP22
18 charcot-marie-tooth neuropathy type 1 9.1 GJB1 MPZ PMP22
19 charcot-marie-tooth disease, demyelinating, type 1c 9.1 MPZ NEFL PMP22
20 charcot-marie-tooth disease, demyelinating, type 1b 9.1 GJB1 MPZ PMP22
21 neuropathy, hereditary, with liability to pressure palsies 9.1 GJB1 MPZ PMP22
22 charcot-marie-tooth disease, axonal, type 2b 9.1 GJB1 MPZ PMP22
23 motor peripheral neuropathy 9.1 GJB1 MPZ PMP22
24 charcot-marie-tooth disease, demyelinating, type 1a 9.1 GJB1 MPZ PMP22
25 charcot-marie-tooth disease, demyelinating, type 1d 9.1 GJB1 MPZ PMP22
26 hereditary neuropathies 9.0 GJB1 MPZ PMP22
27 hypertrophic neuropathy of dejerine-sottas 9.0 GJB1 MPZ PMP22
28 sensory peripheral neuropathy 9.0 GJB1 MPZ PMP22
29 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.0 GJB1 MPZ PMP22
30 neuropathy 8.9 GJB1 MPZ PMP22
31 polyneuropathy 8.9 MPZ PMP22
32 trehalase deficiency 8.6 GJB1 MPZ PMP22
33 peripheral nervous system disease 8.5 GJB1 MPZ NEFL PMP22
34 charcot-marie-tooth disease, axonal, type 2e 8.5 GJB1 MPZ NEFL PMP22
35 tooth disease 8.5 GJB1 MPZ NEFL PMP22
36 charcot-marie-tooth disease 8.4 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 motor delay 32 HP:0001270
3 areflexia 32 HP:0001284
4 pes cavus 32 HP:0001761
5 distal muscle weakness 32 HP:0002460
6 distal sensory impairment 32 HP:0002936
7 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
8 onion bulb formation 32 HP:0003383
9 decreased motor nerve conduction velocity 32 HP:0003431
10 segmental peripheral demyelination/remyelination 32 HP:0003481
11 distal amyotrophy 32 HP:0003693
12 myelin outfoldings 32 HP:0004336
13 clusters of axonal regeneration 32 HP:0007233

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

46
# 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 29 NEFL

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

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

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

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

75
# 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
6 NEFL p.Glu396Lys VAR_021614 rs62636503

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

6
(show all 14)
# 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

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 8.62 MPZ NEFL

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 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
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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