CMT1A
MCID: CHR627
MIFTS: 57

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A)

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

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

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

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 20
Charcot-Marie-Tooth Disease Type 1a 12 73 20 58 15
Charcot-Marie-Tooth Disease, Type Ia 29 6 39 70
Cmt1a 57 12 58 72
Hmsn1a 57 12 72
Hereditary Motor and Sensory Neuropathy Ia 57 72
Hereditary Motor and Sensory Neuropathy 1a 12 20
Charcot-Marie-Tooth Neuropathy, Type 1a 57 54
Charcot-Marie-Tooth Neuropathy Type 1a 12 72
Charcot-Marie-Tooth Disease, Type 1a 57 13
Microduplication 17p12 12 58
Hmsn Ia 57 72
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a 57
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1a 12
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy 72
Hereditary Motor and Sensory Neuropathy Ia; Hmsn Ia 57
Charcot-Marie-Tooth Disease Demyelinating Type 1a 72
Charcot Marie Tooth Disease Type 1a 20
Charcot-Marie-Tooth Disease 1a 72
Hmsn 1a 20
Cmt 1a 20

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 1a
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
insidious onset
variable severity
slowly progressive
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, ), hereditary neuropathy with liability to pressure palsies (hnpp, ), and cmt with deafness

Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

GARD : 20 Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. In CMT1A, abnormal nerve conduction studies can be found in babies or toddlers, but the symptoms that are characteristic of the disease may not occur until 20 years of age or later. CMT1A is caused by having an extra copy (a duplication ) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery; and pain medications. The severity and degree of disability varies very much among the affected people.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1a, also known as charcot-marie-tooth disease type 1a, is related to charcot-marie-tooth disease, axonal, type 2a1 and roussy-levy hereditary areflexic dystasia. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Crest Differentiation. The drugs Ethanol and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, brain and tonsil, and related phenotypes are skeletal muscle atrophy and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

OMIM® : 57 For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (36,39:Lupski et al., 1991, 1992). (118220) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 1A: 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.

Wikipedia : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

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

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 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2a1 31.8 MPZ MFN2 GDAP1
2 roussy-levy hereditary areflexic dystasia 31.7 PMP22 MPZ
3 hereditary neuropathies 30.9 PRX PMP22 MTMR2 MPZ MFN2 GJB1
4 carpal tunnel syndrome 30.8 SH3TC2 PMP22 MPZ
5 neuritis 30.6 PMP22 NEFL MPZ GJB1
6 nerve compression syndrome 30.4 SH3TC2 PMP22 MPZ
7 foot drop 30.2 PMP22 MPZ
8 charcot-marie-tooth disease, axonal, type 2b2 30.2 NEFL MPZ MFN2 GDAP1
9 pelizaeus-merzbacher disease 30.1 SOX10 PMP22 MPZ
10 slowed nerve conduction velocity, autosomal dominant 30.1 NEFL MPZ GJB1 ARHGEF10
11 motor peripheral neuropathy 30.0 SH3TC2 PMP22 MFN2 LITAF
12 spinal muscular atrophy 29.9 SH3TC2 PMP22 NEFL LITAF
13 polyneuropathy 29.9 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
14 demyelinating disease 29.8 PMP22 NTF3 NRG1 MPZ
15 neuropathy, hereditary, with liability to pressure palsies 29.8 TEKT3 SH3TC2 SBF2 PRX PRDM9 PMP22
16 sensory peripheral neuropathy 29.3 PRX PMP22 NTF3 MTMR2 MPZ MFN2
17 charcot-marie-tooth disease and deafness 29.2 TEKT3 SOX10 SH3TC2 SBF2 PRX PMP22
18 charcot-marie-tooth disease, type 4c 29.1 SOX10 SH3TC2 SBF2 MTMR2 MPZ LITAF
19 tooth disease 29.0 SOX10 SH3TC2 SBF2 PRX PMP22 NEFL
20 charcot-marie-tooth disease 29.0 SOX10 SH3TC2 SBF2 PRX PMP22 NTF3
21 neuropathy 29.0 SOX10 SH3TC2 SBF2 PRX PMP22 NTF3
22 charcot-marie-tooth disease, x-linked dominant, 1 28.9 SH3TC2 PRX PMP22 NEFL MTMR2 MPZ
23 peripheral nervous system disease 28.5 SOX10 SH3TC2 SBF2 PRX PMP22 NTF3
24 charcot-marie-tooth disease, demyelinating, type 1b 28.3 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
25 neuropathy, congenital hypomyelinating, 1, autosomal recessive 28.1 TEKT3 SOX10 SH3TC2 SBF2 PRX PMP22
26 hypertrophic neuropathy of dejerine-sottas 28.0 SOX10 SH3TC2 SBF2 PRX PMP22 NEFL
27 neuropathy, hereditary, with or without age-related macular degeneration 10.9
28 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.9
29 yuan-harel-lupski syndrome 10.9
30 tremor 10.6
31 amyotrophic lateral sclerosis 1 10.5
32 lateral sclerosis 10.5
33 polyradiculoneuropathy 10.5
34 charcot-marie-tooth hereditary neuropathy 10.5
35 ataxia and polyneuropathy, adult-onset 10.4
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
37 gdap1-related hereditary motor and sensory neuropathy 10.4
38 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 10.4 MFN2 LITAF
39 sciatic neuropathy 10.3 SH3TC2 PMP22
40 asymmetric motor neuropathy 10.3 PMP22 MFN2
41 mononeuritis of lower limb 10.3 SH3TC2 PMP22
42 lesion of sciatic nerve 10.3 SH3TC2 PMP22
43 charcot-marie-tooth disease, axonal, type 2w 10.3 MPZ GJB1 GDAP1
44 brachial plexus neuropathy 10.3 PMP22 MPZ GJB1
45 pupil disease 10.3 MPZ GDAP1 EGR2
46 argyll robertson pupil 10.3 MPZ GDAP1 EGR2
47 abnormal pupillary function 10.3 MPZ GDAP1 EGR2
48 charcot-marie-tooth disease, dominant intermediate c 10.3 MPZ GJB1 GDAP1
49 mononeuropathy 10.3 SH3TC2 PMP22 MPZ
50 autoimmune peripheral neuropathy 10.3 MPZ GJB1

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



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

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

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

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
2 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
3 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
4 decreased motor nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003431
5 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
6 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
7 sensory ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0010871
8 decreased sensory nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003448
9 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
10 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
11 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
12 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
13 diaphragmatic weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009113
14 spontaneous pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010833
15 shoulder pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030834
16 acute demyelinating polyneuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007131
17 hyperactive deep tendon reflexes 58 31 very rare (1%) Very rare (<4-1%) HP:0006801
18 gait disturbance 58 Frequent (79-30%)
19 hearing impairment 31 HP:0000365
20 impaired pain sensation 31 HP:0007328
21 areflexia 31 HP:0001284
22 split hand 31 HP:0001171
23 peripheral neuropathy 31 HP:0009830
24 impaired vibratory sensation 31 HP:0002495
25 steppage gait 31 HP:0003376
26 impaired proprioception 31 HP:0010831
27 hammertoe 31 HP:0001765
28 limb muscle weakness 31 HP:0003690
29 demyelinating peripheral neuropathy 58 Frequent (79-30%)
30 impaired temperature sensation 31 HP:0010829
31 distal amyotrophy 31 HP:0003693
32 foot dorsiflexor weakness 31 HP:0009027
33 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
34 segmental peripheral demyelination/remyelination 31 HP:0003481
35 abnormal motor neuron morphology 31 HP:0002450
36 onion bulb formation 31 HP:0003383
37 cold-induced muscle cramps 31 HP:0003449
38 hypertrophic nerve changes 31 HP:0003382
39 ulnar claw 31 HP:0001178
40 myelin outfoldings 31 HP:0004336

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
cold-induced muscle cramps
hypertrophic nerve changes
more
Skeletal Spine:
kyphoscoliosis may occur

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Hands:
claw hand deformities (in severe cases)

Clinical features from OMIM®:

118220 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.68 GJB1
2 Decreased viability GR00055-A-2 9.68 GJB1
3 Decreased viability GR00240-S-1 9.68 SOX10
4 Decreased viability GR00249-S 9.68 GJB1 MPZ NTF3 SH3TC2
5 Decreased viability GR00381-A-1 9.68 FGD4 MPZ PRDM9 PRX SH3TC2 TEKT3
6 Decreased viability GR00381-A-3 9.68 MPZ
7 Decreased viability GR00386-A-1 9.68 EGR2 MPZ NEFL NTF3 PRDM9
8 Decreased viability GR00402-S-2 9.68 FGD4 GJB1 MPZ MTMR2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ARHGEF10 EGR2 FGD4 GDAP1 GJB1 MFN2
2 homeostasis/metabolism MP:0005376 9.97 ARHGEF10 EGR2 FGD4 GDAP1 GJB1 LITAF
3 nervous system MP:0003631 9.86 ARHGEF10 EGR2 FGD4 GDAP1 GJB1 LITAF
4 reproductive system MP:0005389 9.28 EGR2 GDAP1 MPZ MTMR2 NTF3 PMP22

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

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Sorbitol Approved Phase 3 50-70-4 5780
3
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
4
Baclofen Approved Phase 3 1134-47-0 2284
5
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
6 Micronutrients Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Nutrients Phase 2, Phase 3
9 Antioxidants Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3
12 Gastrointestinal Agents Phase 3
13 Narcotics Phase 3
14 Cathartics Phase 3
15 GABA Agonists Phase 3
16 Neurotransmitter Agents Phase 3
17 Narcotic Antagonists Phase 3
18 Laxatives Phase 3
19 Pharmaceutical Solutions Phase 3
20 Ulipristal acetate Phase 2 126784-99-4

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
2 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
3 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
4 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
5 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
6 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
7 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
8 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
9 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
10 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
11 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
12 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
13 Driving Ability in Patients With CMT 1A Completed NCT02357355
14 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
15 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088
16 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type Ia 29 PMP22

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

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

40
Skeletal Muscle, Brain, Tonsil, Spinal Cord, Skin, Heart

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

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

(show top 50) (show all 788)
# Title Authors PMID Year
1
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. 61 57 6
24530202 2014
2
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 6 57 61
15205993 2004
3
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. 57 6 61
1303281 1992
4
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. 57 6 61
1301995 1992
5
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. 61 6 57
1677316 1991
6
De-novo mutation in hereditary motor and sensory neuropathy type I. 6 57
1349106 1992
7
Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). 57 6
1564512 1992
8
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. 54 57 61
10489052 1999
9
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. 54 61 57
8834051 1996
10
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy. 6 61
22006697 2011
11
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. 57 61
21280073 2011
12
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. 61 57
19888301 2010
13
PMP22 expression in dermal nerve myelin from patients with CMT1A. 61 57
19447823 2009
14
Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a. 57 61
18852440 2008
15
Neuropathy progression in Charcot-Marie-Tooth disease type 1A. 57 61
18227419 2008
16
Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. 57 61
17262851 2007
17
NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. 61 57
16157899 2005
18
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 61 57
11835375 2002
19
Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. 57 61
11214130 2001
20
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. 61 57
9842994 1998
21
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. 57 61
8682501 1996
22
Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. 61 57
8644705 1996
23
Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development. 57 61
8847735 1995
24
Inheritance of CMT1A duplication from a mosaic father. 57 61
7666403 1995
25
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. 57 61
8615087 1995
26
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. 61 57
7853375 1994
27
Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. 61 57
7834893 1994
28
Detection of tandem duplications and implications for linkage analysis. 61 57
8198134 1994
29
Genetic basis of inherited peripheral neuropathies. 61 57
7515304 1994
30
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. 61 6
8105684 1993
31
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12. 61 6
8500795 1993
32
Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. 57 61
8418668 1993
33
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. 61 57
1729894 1992
34
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. 6 61
1552536 1992
35
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. 61 6
1552545 1992
36
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. 61 6
1721895 1991
37
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. 57 61
1674726 1991
38
Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17. 61 57
2365358 1990
39
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 57
21326314 2011
40
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 6
21252112 2011
41
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis. 6
21149811 2010
42
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes. 57
19705173 2010
43
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 6
19259128 2009
44
Severe phenotype with cis-acting heterozygous PMP22 mutations. 6
19067730 2009
45
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. 57
17701891 2007
46
Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A. 57
17353481 2007
47
Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease. 57
17159111 2006
48
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. 57
16252242 2005
49
Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! 57
16043782 2005
50
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. 6
15786462 2005

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

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

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMP22 PMP22, 1.4-MB DUP Duplication Pathogenic 8427 GRCh37:
GRCh38:
2 PMP22 NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) SNV Pathogenic 8428 rs104894617 GRCh37: 17:15163998-15163998
GRCh38: 17:15260681-15260681
3 PMP22 NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) SNV Pathogenic 8429 rs104894618 GRCh37: 17:15142871-15142871
GRCh38: 17:15239554-15239554
4 PMP22 NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) SNV Pathogenic 8445 rs104894625 GRCh37: 17:15163980-15163980
GRCh38: 17:15260663-15260663
5 PMP22 NM_000304.4(PMP22):c.281del (p.Gly94fs) Deletion Pathogenic 30158 rs80338763 GRCh37: 17:15142826-15142826
GRCh38: 17:15239509-15239509
6 PMP22 PMP22, 1.4-MB TRIPLICATION Variation Pathogenic 127097 GRCh37:
GRCh38:
7 PMP22 NM_000304.4(PMP22):c.434del (p.Leu145fs) Deletion Pathogenic 217238 rs863225029 GRCh37: 17:15134283-15134283
GRCh38: 17:15230966-15230966
8 overlap with 9 genes Duplication Pathogenic 598751 GRCh37: 17:14087933-15500645
GRCh38:
9 overlap with 8 genes GRCh37/hg19 17p12(chr17:14063251-15449627) copy number gain Pathogenic 625724 GRCh37: 17:14063251-15449627
GRCh38:
10 overlap with 8 genes GRCh37/hg19 17p12(chr17:14104012-15422557) copy number gain Pathogenic 625726 GRCh37: 17:14104012-15422557
GRCh38:
11 overlap with 11 genes GRCh37/hg19 17p12(chr17:14105874-15611546) copy number gain Pathogenic 625728 GRCh37: 17:14105874-15611546
GRCh38:
12 PMP22 NC_000017.11:g.15133096_15164093dup Duplication Pathogenic 977285 GRCh37: 17:15036412-15036413
GRCh38: 17:15133095-15133096
13 PMP22 NM_000304.4(PMP22):c.281dup (p.Arg95fs) Duplication Pathogenic 8437 rs80338763 GRCh37: 17:15142825-15142826
GRCh38: 17:15239508-15239509
14 PMP22 NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) SNV Likely pathogenic 217236 rs863225027 GRCh37: 17:15142872-15142872
GRCh38: 17:15239555-15239555
15 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) SNV Uncertain significance 462781 rs1022583382 GRCh37: 17:15134239-15134239
GRCh38: 17:15230922-15230922
16 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) SNV Uncertain significance 188195 rs756046682 GRCh37: 17:15142922-15142922
GRCh38: 17:15239605-15239605
17 PMP22 NM_000304.4(PMP22):c.353C>T (p.Thr118Met) SNV Uncertain significance 8431 rs104894619 GRCh37: 17:15134364-15134364
GRCh38: 17:15231047-15231047
18 PMP22 NM_000304.4(PMP22):c.362A>G (p.His121Arg) SNV not provided 586345 rs1567698985 GRCh37: 17:15134355-15134355
GRCh38: 17:15231038-15231038

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

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 PMP22 p.Leu16Pro VAR_006360 rs104894617
2 PMP22 p.Ser72Leu VAR_006363 rs104894621
3 PMP22 p.Ser79Cys VAR_006367 rs104894618
4 PMP22 p.Leu105Arg VAR_006373
5 PMP22 p.Gly107Val VAR_006374
6 PMP22 p.Thr118Met VAR_006375 rs104894619
7 PMP22 p.Leu147Arg VAR_006377
8 PMP22 p.Asp37Val VAR_009660 rs104894627
9 PMP22 p.Gly93Arg VAR_009662 rs778693173
10 PMP22 p.Ser22Phe VAR_029960 rs104894625
11 PMP22 p.Val65Phe VAR_029964

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.03 SOX10 NTF3 NEFL
2 10.93 SOX10 PMP22 MPZ GJB1

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

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.02 SBF2 NTF3 NRG1 NEFL MTMR2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 9.4 MFN2 GDAP1
2 positive regulation of myelination GO:0031643 9.37 SOX10 EGR2
3 myelination GO:0042552 9.33 SBF2 MPZ EGR2
4 myelin assembly GO:0032288 9.32 PMP22 MTMR2
5 peripheral nervous system myelin maintenance GO:0032287 9.26 SH3TC2 PRX
6 myelination in peripheral nervous system GO:0022011 9.13 SH3TC2 NRG1 ARHGEF10
7 peripheral nervous system development GO:0007422 9.02 SOX10 PMP22 NTF3 NRG1 EGR2

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

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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