CMT1F
MCID: CHR656
MIFTS: 49

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 57 20 29 6 70
Charcot-Marie-Tooth Disease Type 1f 12 20 58 15
Cmt1f 57 12 58 72
Charcot-Marie-Tooth Neuropathy Type 1f 12 72
Charcot-Marie-Tooth Disease, Type 1f 57 13
Severe Early-Onset Axonal Neuropathy Due to Light Neurofilament Subunit Deficiency 58
Severe Early-Onset Axonal Neuropathy Due to Nefl Deficiency 58
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 58
Charcot-Marie-Tooth Disease Demyelinating Type 1f 72
Charcot-Marie-Tooth Neuropathy, Type 1f 57
Charcot-Marie-Tooth Disease Type 2b5 58
Charcot-Marie-Tooth Disease, Type if 39
Charcot Marie Tooth Disease Type 1f 20
Charcot-Marie-Tooth Disease 1f 72
Seoan Due to Nefl Deficiency 58
Ar-Cmt2b5 58
Cmt 1f 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
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


HPO:

31
charcot-marie-tooth disease, demyelinating, type 1f:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course variable expressivity juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110149
OMIM® 57 607734
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1843164
MedGen 41 C1843164
UMLS 70 C1843164

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

UniProtKB/Swiss-Prot : 72 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 giant axonal neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1f is NEFL (Neurofilament Light Chain), and among its related pathways/superpathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Cytoskeleton remodeling Neurofilaments. The drugs Sorbitol and Naltrexone have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are motor delay and areflexia

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

More information from OMIM: 607734 PS118220

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 top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 29.4 SBF2 NEFL MTMR2 MPZ LITAF KIF1B
2 giant axonal neuropathy 10.3 NEFL DCAF8
3 charcot-marie-tooth disease, axonal, type 2cc 10.2 NEFH DCAF8
4 amyotrophic neuralgia 10.2 MPZ DCAF8
5 wallerian degeneration 10.2 NEFM MPZ
6 mononeuropathy 10.2 MPZ DCAF8
7 autoimmune peripheral neuropathy 10.1 MPZ GJB1
8 charcot-marie-tooth disease, dominant intermediate d 10.1 MPZ KIF1B
9 slowed nerve conduction velocity, autosomal dominant 10.1 NEFL MPZ GJB1
10 brachial plexus neuropathy 10.0 MPZ GJB1 DCAF8
11 charcot-marie-tooth disease x-linked recessive 4 10.0 MPZ GJB1
12 pick disease of brain 10.0 NEFL NEFH INA
13 neuritis 10.0 NEFL MPZ GJB1
14 hereditary neuropathies 10.0 MTMR2 MPZ GJB1
15 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1
16 pupil disease 10.0 MPZ GDAP1
17 argyll robertson pupil 10.0 MPZ GDAP1
18 abnormal pupillary function 10.0 MPZ GDAP1
19 early-onset glaucoma 9.9 SBF2 SBF1 MTMR2
20 myopathy, centronuclear, x-linked 9.9 SBF2 SBF1 MTMR2
21 centronuclear myopathy 9.9 SBF2 SBF1 MTMR2
22 motor peripheral neuropathy 9.9 LITAF DYNC1H1 DCAF8
23 corneal dystrophy, fleck 9.8 SBF2 MTMR2
24 giant axonal neuropathy 2 9.8 NEFM NEFL NEFH INA DCAF8
25 waardenburg syndrome, type 4a 9.8 MPZ GJB1
26 optic nerve disease 9.8 NEFL GDAP1 DCAF8
27 charcot-marie-tooth disease, axonal, type 2p 9.8 LITAF GDAP1
28 spinal muscular atrophy with lower extremity predominance 9.7 GDAP1 DYNC1H1
29 charcot-marie-tooth disease, dominant intermediate a 9.7 MPZ GJB1 GDAP1
30 charcot-marie-tooth disease, axonal, type 2w 9.7 MPZ GJB1 GDAP1
31 charcot-marie-tooth disease, dominant intermediate c 9.7 MPZ GJB1 GDAP1
32 cortical dysplasia, complex, with other brain malformations 6 9.7 LITAF GDAP1
33 charcot-marie-tooth disease, axonal, type 2a1 9.7 MPZ KIF1B GDAP1
34 axonal neuropathy 9.7 NEFL NEFH GDAP1 DCAF8
35 charcot-marie-tooth disease, axonal, type 2k 9.7 GDAP1 DYNC1H1
36 charcot-marie-tooth disease, x-linked recessive, 2 9.6 MPZ LITAF GJB1 DYNC1H1
37 yunis-varon syndrome 9.6 SBF2 MTMR2 GDAP1
38 charcot-marie-tooth disease, axonal, type 2d 9.6 NEFL MPZ GJB1 GDAP1
39 charcot-marie-tooth disease, axonal, type 2b2 9.6 NEFL MPZ KIF1B GDAP1
40 polyneuropathy 9.5 MPZ LITAF GJB1 GDAP1
41 charcot-marie-tooth disease, axonal, type 2l 9.5 NEFL MPZ KIF1B GDAP1 DCAF8
42 motor neuron disease 9.5 NEFM NEFL NEFH MPZ INA DYNC1H1
43 hereditary motor and sensory neuropathy, type iic 9.4 NEFL NEFH MPZ GJB1 GDAP1
44 charcot-marie-tooth disease, axonal, type 2j 9.4 SBF2 NEFL MTMR2 MPZ GDAP1
45 charcot-marie-tooth disease, type 4b3 9.4 SBF2 SBF1 MTMR2 MPZ GDAP1
46 charcot-marie-tooth disease, axonal, type 2i 9.4 NEFL MPZ KIF1B GJB1 GDAP1
47 charcot-marie-tooth disease, type 4h 9.4 SBF2 SBF1 MTMR2 MPZ GDAP1
48 charcot-marie-tooth disease, demyelinating, type 1d 9.3 MTMR2 MPZ LITAF GJB1 GDAP1
49 sensory peripheral neuropathy 9.3 MTMR2 MPZ LITAF GJB1 GDAP1
50 charcot-marie-tooth disease, demyelinating, type 4f 9.3 SBF2 MTMR2 MPZ LITAF GDAP1

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:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 motor delay 58 31 Frequent (79-30%) HP:0001270
2 areflexia 58 31 Frequent (79-30%) HP:0001284
3 pes cavus 58 31 Frequent (79-30%) HP:0001761
4 distal muscle weakness 58 31 Very frequent (99-80%) HP:0002460
5 scoliosis 58 Occasional (29-5%)
6 dysarthria 58 Occasional (29-5%)
7 muscular hypotonia 58 Occasional (29-5%)
8 sensorineural hearing impairment 58 Occasional (29-5%)
9 cognitive impairment 58 Occasional (29-5%)
10 skeletal muscle atrophy 58 Very frequent (99-80%)
11 decreased nerve conduction velocity 58 Very frequent (99-80%)
12 scapular winging 58 Occasional (29-5%)
13 proximal lower limb amyotrophy 58 Occasional (29-5%)
14 proximal muscle weakness in lower limbs 58 Occasional (29-5%)
15 proximal muscle weakness in upper limbs 58 Occasional (29-5%)
16 impaired pain sensation 58 Frequent (79-30%)
17 paresthesia 58 Occasional (29-5%)
18 fasciculations 58 Occasional (29-5%)
19 hyporeflexia 31 HP:0001265
20 decreased motor nerve conduction velocity 31 HP:0003431
21 gait ataxia 58 Frequent (79-30%)
22 positive romberg sign 58 Frequent (79-30%)
23 impaired vibratory sensation 58 Frequent (79-30%)
24 steppage gait 58 Frequent (79-30%)
25 distal lower limb muscle weakness 58 Frequent (79-30%)
26 impaired proprioception 58 Frequent (79-30%)
27 head tremor 58 Frequent (79-30%)
28 flexion contracture of finger 58 Occasional (29-5%)
29 sensory impairment 58 Very frequent (99-80%)
30 unsteady gait 58 Frequent (79-30%)
31 distal sensory impairment 31 HP:0002936
32 abnormality of the hand 58 Frequent (79-30%)
33 urinary incontinence 58 Occasional (29-5%)
34 inability to walk 58 Very rare (<4-1%)
35 distal amyotrophy 31 HP:0003693
36 optic nerve hypoplasia 58 Occasional (29-5%)
37 limb ataxia 58 Frequent (79-30%)
38 foot dorsiflexor weakness 58 Frequent (79-30%)
39 distal upper limb amyotrophy 58 Frequent (79-30%)
40 hand tremor 58 Frequent (79-30%)
41 muscle spasm 58 Occasional (29-5%)
42 distal lower limb amyotrophy 58 Frequent (79-30%)
43 sensorimotor neuropathy 58 Very frequent (99-80%)
44 hand muscle weakness 58 Frequent (79-30%)
45 hand muscle atrophy 58 Frequent (79-30%)
46 cervical spinal cord atrophy 58 Frequent (79-30%)
47 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
48 tongue atrophy 58 Occasional (29-5%)
49 segmental peripheral demyelination/remyelination 31 HP:0003481
50 decreased number of large peripheral myelinated nerve fibers 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
clusters of axonal regeneration
delayed motor development
more
Skeletal Feet:
pes cavus

Clinical features from OMIM®:

607734 (Updated 20-May-2021)

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 9.61 DYNC1H1 GDAP1 GJB1 KIF1B MPZ MTMR2
2 nervous system MP:0003631 9.36 DYNC1H1 GDAP1 GJB1 INA KIF1B LITAF

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

Drugs for Charcot-Marie-Tooth Disease, Demyelinating, Type 1f (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorbitol Approved Phase 3 50-70-4 5780
2
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
3
Baclofen Approved Phase 3 1134-47-0 2284
4
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
5 Micronutrients Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7 Nutrients Phase 2, Phase 3
8 Antioxidants Phase 2, Phase 3
9 Vitamins Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
2 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
3 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
4 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
5 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
6 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
7 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
8 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
9 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
10 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300
11 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088

Search 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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1f:

40
Brain, Spinal Cord, Skeletal Muscle, Tongue

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

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

(show all 12)
# Title Authors PMID Year
1
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. 6 57
20039262 2009
2
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. 6 57
19158810 2009
3
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 6 57
12566280 2003
4
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. 6 61
15282209 2004
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. 6
17881652 2007
6
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. 6
17620486 2007
7
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan. 6
14586770 2004
8
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 6
11220745 2001
9
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature. 61
30734407 2019
10
Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology. 61
27458838 2016
11
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. 61
18758688 2008
12
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 61
17052987 2007

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

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

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEFL NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) SNV Pathogenic 14034 rs121913663 GRCh37: 8:24813612-24813612
GRCh38: 8:24956098-24956098
2 NEFL NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) SNV Pathogenic 29803 rs199422214 GRCh37: 8:24813402-24813402
GRCh38: 8:24955888-24955888
3 NEFL NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) SNV Pathogenic 41238 rs28928910 GRCh37: 8:24813966-24813966
GRCh38: 8:24956452-24956452
4 NEFL NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) SNV Pathogenic 41239 rs267607538 GRCh37: 8:24813965-24813965
GRCh38: 8:24956451-24956451
5 NEFL NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del) Microsatellite Pathogenic 66681 rs3832558 GRCh37: 8:24810374-24810376
GRCh38: 8:24952861-24952863
6 NEFL NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) SNV Pathogenic 41236 rs58982919 GRCh37: 8:24813737-24813737
GRCh38: 8:24956223-24956223
7 NEFL NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) SNV Pathogenic 41236 rs58982919 GRCh37: 8:24813737-24813737
GRCh38: 8:24956223-24956223
8 NEFL NM_006158.4(NEFL):c.446C>T (p.Ala149Val) SNV Pathogenic 41237 rs59101996 GRCh37: 8:24813584-24813584
GRCh38: 8:24956070-24956070
9 NEFL NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) Indel Pathogenic 14030 rs60261494 GRCh37: 8:24814007-24814008
GRCh38: 8:24956493-24956494
10 NEFL NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) SNV Pathogenic 14029 rs28928910 GRCh37: 8:24813966-24813966
GRCh38: 8:24956452-24956452
11 NEFL NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter) SNV Likely pathogenic 1048599 GRCh37: 8:24813976-24813976
GRCh38: 8:24956462-24956462
12 NEFL NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) SNV Likely pathogenic 689368 rs1586128169 GRCh37: 8:24813193-24813193
GRCh38: 8:24955679-24955679
13 NEFL NM_006158.5(NEFL):c.717G>A (p.Gln239=) SNV Uncertain significance 908822 GRCh37: 8:24813313-24813313
GRCh38: 8:24955799-24955799
14 NEFL NM_006158.5(NEFL):c.*1464A>G SNV Uncertain significance 909556 GRCh37: 8:24808859-24808859
GRCh38: 8:24951346-24951346
15 NEFL NM_006158.5(NEFL):c.*1383C>T SNV Uncertain significance 909557 GRCh37: 8:24808940-24808940
GRCh38: 8:24951427-24951427
16 NEFL NM_006158.5(NEFL):c.564C>G (p.Ala188=) SNV Uncertain significance 909673 GRCh37: 8:24813466-24813466
GRCh38: 8:24955952-24955952
17 NEFL NM_006158.5(NEFL):c.540G>C (p.Glu180Asp) SNV Uncertain significance 909675 GRCh37: 8:24813490-24813490
GRCh38: 8:24955976-24955976
18 NEFL NM_006158.5(NEFL):c.516C>T (p.Arg172=) SNV Uncertain significance 909676 GRCh37: 8:24813514-24813514
GRCh38: 8:24956000-24956000
19 NEFL NC_000008.11:g.24956763G>C SNV Uncertain significance 910603 GRCh37: 8:24814277-24814277
GRCh38: 8:24956763-24956763
20 NEFL NM_006158.5(NEFL):c.*1153T>G SNV Uncertain significance 911715 GRCh37: 8:24809170-24809170
GRCh38: 8:24951657-24951657
21 NEFL NM_006158.5(NEFL):c.*1101G>A SNV Uncertain significance 911716 GRCh37: 8:24809222-24809222
GRCh38: 8:24951709-24951709
22 NEFL NM_006158.4(NEFL):c.45G>A (p.Lys15=) SNV Uncertain significance 66693 rs62636518 GRCh37: 8:24813985-24813985
GRCh38: 8:24956471-24956471
23 NEFL NC_000008.11:g.24956773G>C SNV Uncertain significance 911828 GRCh37: 8:24814287-24814287
GRCh38: 8:24956773-24956773
24 NEFL NM_006158.5(NEFL):c.1027_1029del (p.Asp343del) Deletion Uncertain significance 930434 GRCh37: 8:24813001-24813003
GRCh38: 8:24955487-24955489
25 NEFL NM_006158.5(NEFL):c.73C>A (p.His25Asn) SNV Uncertain significance 932021 GRCh37: 8:24813957-24813957
GRCh38: 8:24956443-24956443
26 NEFL NM_006158.4(NEFL):c.*1482C>T SNV Uncertain significance 362619 rs886062827 GRCh37: 8:24808841-24808841
GRCh38: 8:24951328-24951328
27 NEFL NM_006158.4(NEFL):c.*1744T>C SNV Uncertain significance 362616 rs886062825 GRCh37: 8:24808579-24808579
GRCh38: 8:24951066-24951066
28 NEFL NM_006158.4(NEFL):c.*171C>G SNV Uncertain significance 362642 rs886062834 GRCh37: 8:24810152-24810152
GRCh38: 8:24952639-24952639
29 NEFL NM_006158.4(NEFL):c.*51A>G SNV Uncertain significance 362645 rs538082598 GRCh37: 8:24810272-24810272
GRCh38: 8:24952759-24952759
30 NEFL NM_006158.4(NEFL):c.*856T>C SNV Uncertain significance 362631 rs886062831 GRCh37: 8:24809467-24809467
GRCh38: 8:24951954-24951954
31 NEFL NM_006158.4(NEFL):c.-68T>A SNV Uncertain significance 362648 rs886062836 GRCh37: 8:24814097-24814097
GRCh38: 8:24956583-24956583
32 NEFL NM_006158.4(NEFL):c.*577T>C SNV Uncertain significance 362633 rs886062832 GRCh37: 8:24809746-24809746
GRCh38: 8:24952233-24952233
33 NEFL NM_006158.4(NEFL):c.141G>A (p.Val47=) SNV Uncertain significance 362647 rs886062835 GRCh37: 8:24813889-24813889
GRCh38: 8:24956375-24956375
34 NEFL NM_006158.4(NEFL):c.*1342A>G SNV Uncertain significance 362623 rs886062830 GRCh37: 8:24808981-24808981
GRCh38: 8:24951468-24951468
35 NEFL NM_006158.4(NEFL):c.*1349T>G SNV Uncertain significance 362620 rs886062828 GRCh37: 8:24808974-24808974
GRCh38: 8:24951461-24951461
36 NEFL NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) SNV Uncertain significance 910601 GRCh37: 8:24813692-24813692
GRCh38: 8:24956178-24956178
37 NEFL NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) SNV Uncertain significance 220209 rs377121179 GRCh37: 8:24810345-24810345
GRCh38: 8:24952832-24952832
38 NEFL NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) SNV Uncertain significance 234913 rs876661290 GRCh37: 8:24813044-24813044
GRCh38: 8:24955530-24955530
39 NEFL NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) SNV Likely benign 908821 GRCh37: 8:24811164-24811164
GRCh38: 8:24953650-24953650
40 NEFL NM_006158.5(NEFL):c.339G>C (p.Gln113His) SNV Likely benign 909677 GRCh37: 8:24813691-24813691
GRCh38: 8:24956177-24956177
41 NEFL NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) SNV Likely benign 362646 rs140532785 GRCh37: 8:24811150-24811150
GRCh38: 8:24953636-24953636
42 NEFL NM_006158.4(NEFL):c.1212C>T (p.Ser404=) SNV Likely benign 66673 rs60547413 GRCh37: 8:24811267-24811267
GRCh38: 8:24953753-24953753
43 NEFL NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) SNV Likely benign 911788 GRCh37: 8:24811071-24811071
GRCh38: 8:24953557-24953557
44 NEFL NM_006158.5(NEFL):c.558G>A (p.Glu186=) SNV Likely benign 909674 GRCh37: 8:24813472-24813472
GRCh38: 8:24955958-24955958
45 NEFL NM_006158.5(NEFL):c.*436T>G SNV Likely benign 909615 GRCh37: 8:24809887-24809887
GRCh38: 8:24952374-24952374
46 NEFL NM_006158.5(NEFL):c.*1293A>G SNV Benign 910484 GRCh37: 8:24809030-24809030
GRCh38: 8:24951517-24951517
47 NEFL NM_006158.4(NEFL):c.-176C>A SNV Benign 670555 rs2979688 GRCh37: 8:24814205-24814205
GRCh38: 8:24956691-24956691
48 NEFL NC_000008.11:g.24956698G>C SNV Benign 910602 GRCh37: 8:24814212-24814212
GRCh38: 8:24956698-24956698
49 NEFL NM_006158.4(NEFL):c.*244A>G SNV Benign 362640 rs78869168 GRCh37: 8:24810079-24810079
GRCh38: 8:24952566-24952566
50 NEFL NM_006158.4(NEFL):c.*878A>G SNV Benign 362630 rs189452316 GRCh37: 8:24809445-24809445
GRCh38: 8:24951932-24951932

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

72
# 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

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 11.16 NEFM NEFL NEFH
2
Show member pathways
10.96 NEFM NEFL NEFH INA
3 10.71 NEFM NEFL NEFH

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 cytoplasm GO:0005737 10.18 SBF2 SBF1 NEFM NEFL NEFH MTMR2
2 cell projection GO:0042995 9.88 SBF2 NEFM NEFL NEFH MTMR2
3 intermediate filament GO:0005882 9.62 NEFM NEFL NEFH INA
4 Schaffer collateral - CA1 synapse GO:0098685 9.61 NEFL NEFH INA
5 axon cytoplasm GO:1904115 9.54 NEFL KIF1B DYNC1H1
6 vacuolar membrane GO:0005774 9.46 SBF2 MTMR2
7 axon GO:0030424 9.43 SBF2 NEFM NEFL NEFH MTMR2 KIF1B
8 neurofibrillary tangle GO:0097418 9.26 NEFM NEFH
9 postsynaptic intermediate filament cytoskeleton GO:0099160 9.16 NEFL NEFH
10 neurofilament GO:0005883 8.92 NEFM NEFL NEFH INA

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 anterograde axonal transport GO:0008089 9.43 NEFL KIF1B
2 intermediate filament cytoskeleton organization GO:0045104 9.4 NEFH INA
3 axon development GO:0061564 9.37 NEFL NEFH
4 neurofilament cytoskeleton organization GO:0060052 9.33 NEFL NEFH INA
5 retrograde axonal transport GO:0008090 9.32 NEFL DYNC1H1
6 intermediate filament bundle assembly GO:0045110 9.26 NEFL NEFH
7 postsynaptic intermediate filament cytoskeleton organization GO:0099185 9.13 NEFL NEFH INA
8 neurofilament bundle assembly GO:0033693 8.8 NEFM NEFL NEFH

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 kinesin binding GO:0019894 9.26 NEFH KIF1B
2 structural constituent of cytoskeleton GO:0005200 9.26 NEFM NEFL NEFH INA
3 phosphatase regulator activity GO:0019208 9.16 SBF2 SBF1
4 structural constituent of postsynaptic intermediate filament cytoskeleton GO:0099184 8.8 NEFL NEFH INA

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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