CMT1A
MCID: CHR627
MIFTS: 55

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 58 54
Charcot-Marie-Tooth Disease Type 1a 12 77 54 60 15
Charcot-Marie-Tooth Disease, Type Ia 30 6 41 74
Cmt1a 58 12 60 76
Hmsn1a 58 12 76
Hereditary Motor and Sensory Neuropathy Ia 58 76
Hereditary Motor and Sensory Neuropathy 1a 12 54
Charcot-Marie-Tooth Neuropathy, Type 1a 58 56
Charcot-Marie-Tooth Neuropathy Type 1a 12 76
Charcot-Marie-Tooth Disease, Type 1a 58 13
Microduplication 17p12 12 60
Hmsn Ia 58 76
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a 58
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 76
Hereditary Motor and Sensory Neuropathy Ia; Hmsn Ia 58
Charcot-Marie-Tooth Disease Demyelinating Type 1a 76
Charcot Marie Tooth Disease Type 1a 54
Charcot-Marie-Tooth Disease 1a 76
Hmsn 1a 54
Cmt 1a 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 1a
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
insidious onset
genetic heterogeneity (see cmt1b, )
allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, ), hereditary neuropathy with liability to pressure palsies (hnpp, ), and cmt with deafness


HPO:

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


Classifications:



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

NIH Rare Diseases : 54 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 roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Vitamin C and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and spinal cord, 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... 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 88)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 32.6 MPZ PMP22
2 charcot-marie-tooth disease, axonal, type 2a1 31.8 KIF1B MFN2
3 charcot-marie-tooth disease, x-linked dominant, 1 30.2 GJB1 MPZ PMP22
4 polyneuropathy 30.1 GDAP1 MPZ PMP22
5 neuropathy 30.0 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
6 peripheral nervous system disease 29.3 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
7 sensory peripheral neuropathy 29.1 EGR2 GDAP1 GJB1 MFN2 MPZ MTMR2
8 tooth disease 29.1 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
9 charcot-marie-tooth disease 28.7 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
10 charcot-marie-tooth disease and deafness 28.6 ADCY10 COX10 EGR2 GDAP1 GJB1 KIF1B
11 neuropathy, hereditary, with liability to pressure palsies 27.9 ADCY10 COX10 EGR2 GDAP1 GJB1 KIF1B
12 neuropathy, hereditary, with or without age-related macular degeneration 11.1
13 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.1
14 yuan-harel-lupski syndrome 11.1
15 chronic inflammatory demyelinating polyneuropathy 10.5
16 muscular dystrophy, duchenne type 10.4
17 muscular dystrophy 10.4
18 erythermalgia, primary 10.4
19 myasthenia gravis 10.4
20 body mass index quantitative trait locus 1 10.4
21 pitt-hopkins syndrome 10.4
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
23 left ventricular noncompaction 10.4
24 myotonia congenita 10.4
25 myasthenia gravis congenital 10.4
26 riboflavin transporter deficiency 10.4
27 myotonia 10.4
28 polyneuropathy associated with igm monoclonal gammapathy with anti-mag 10.4
29 hypertelorism 10.3
30 epilepsy 10.3
31 congenital hypomyelination neuropathy 10.3 MPZ PMP22
32 charcot-marie-tooth hereditary neuropathy 10.3 MPZ PMP22
33 foot drop 10.3 MPZ PMP22
34 cauda equina syndrome 10.3 EGR2 PMP22
35 charcot-marie-tooth disease, axonal, type 2q 10.3 EGR2 MPZ
36 charcot-marie-tooth disease, axonal, type 2i 10.2 KIF1B MPZ
37 charcot-marie-tooth disease, axonal, type 2j 10.2 KIF1B MPZ
38 chronic inflammatory demyelinating polyradiculoneuropathy 10.2 MPZ PMP22
39 polyradiculoneuropathy 10.2 MPZ PMP22
40 brachial plexus neuropathy 10.2 KIF1B PMP22
41 charcot-marie-tooth disease, demyelinating, type 1f 10.2 GJB1 MPZ PMP22
42 colorectal adenoma 10.1
43 hepatosplenic t-cell lymphoma 10.1
44 charcot-marie-tooth neuropathy type 2a 10.1 KIF1B MFN2
45 charcot-marie-tooth disease type 2a 10.1 KIF1B MFN2
46 autoimmune peripheral neuropathy 10.1 GJB1 MPZ
47 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 EGR2 GJB1 MPZ
48 pelizaeus-merzbacher disease 10.1 MPZ PMP22
49 diabetes mellitus 10.1
50 autism 10.1

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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
2 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
3 decreased motor nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0003431
4 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
5 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
6 sensory ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0010871
7 distal sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002936
8 decreased sensory nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0003448
9 gait imbalance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002141
10 paresthesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003401
11 kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002751
12 calf muscle hypertrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008981
13 spontaneous pain sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0010833
14 diaphragmatic weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0009113
15 shoulder pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0030834
16 acute demyelinating polyneuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007131
17 hyperactive deep tendon reflexes 60 33 very rare (1%) Very rare (<4-1%) HP:0006801
18 gait disturbance 60 Frequent (79-30%)
19 hearing impairment 33 HP:0000365
20 peripheral neuropathy 33 HP:0009830
21 impaired proprioception 33 HP:0010831
22 impaired pain sensation 33 HP:0007328
23 areflexia 33 HP:0001284
24 split hand 33 HP:0001171
25 foot dorsiflexor weakness 33 HP:0009027
26 limb muscle weakness 33 HP:0003690
27 hammertoe 33 HP:0001765
28 steppage gait 33 HP:0003376
29 demyelinating peripheral neuropathy 60 Frequent (79-30%)
30 impaired vibratory sensation 33 HP:0002495
31 distal amyotrophy 33 HP:0003693
32 segmental peripheral demyelination/remyelination 33 HP:0003481
33 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
34 hypertrophic nerve changes 33 HP:0003382
35 impaired temperature sensation 33 HP:0010829
36 onion bulb formation 33 HP:0003383
37 cold-induced muscle cramps 33 HP:0003449
38 abnormal motor neuron morphology 33 HP:0002450
39 ulnar claw 33 HP:0001178
40 myelin outfoldings 33 HP:0004336

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Spine:
kyphoscoliosis may occur

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
distal limb muscle weakness due to peripheral neuropathy
more
Skeletal Hands:
claw hand deformities (in severe cases)

Clinical features from OMIM:

118220

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
2 homeostasis/metabolism MP:0005376 9.96 ADCY10 COX10 EGR2 GDAP1 GJB1 KIF1B
3 cellular MP:0005384 9.92 ADCY10 COX10 EGR2 GDAP1 GJB1 MFN2
4 mortality/aging MP:0010768 9.56 COX10 EGR2 GJB1 KIF1B MFN2 MPZ
5 limbs/digits/tail MP:0005371 9.55 EGR2 GDAP1 KIF1B MTMR2 PMP22
6 nervous system MP:0003631 9.28 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2

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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin C Approved, Nutraceutical Phase 2, Phase 3,Phase 3 50-81-7 54670067 5785
2 4-des-dimethylaminotetracycline Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
3 Pharmaceutical Solutions Phase 3
4 Vitamins Phase 2, Phase 3
5 Trace Elements Phase 2, Phase 3
6 Micronutrients Phase 2, Phase 3
7 Antioxidants Phase 2, Phase 3
8 Nutrients Phase 2, Phase 3
9 Protective Agents Phase 2, Phase 3
10 Contraceptive Agents Phase 2
11 Ulipristal acetate Phase 2 126784-99-4
12 HIV Protease Inhibitors Not Applicable
13 Matrix Metalloproteinase Inhibitors Not Applicable
14
protease inhibitors Not Applicable

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
2 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
3 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
4 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
6 Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
7 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
8 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
9 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
10 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
11 Driving Ability in Patients With CMT 1A Completed NCT02357355 Not Applicable
12 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191 Not Applicable
13 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Recruiting NCT01193088
14 Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care Recruiting NCT03715283 Not Applicable
15 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300
16 Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC) Completed NCT03460951
17 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Active, not recruiting NCT03386266
18 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
19 Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy Recruiting NCT03278093
20 Protective Genetic Factors Against Neurological Diseases Not yet recruiting NCT03914599

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 30 PMP22

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

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

42
Skeletal Muscle, Testes, Spinal Cord, T Cells

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

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

(show top 50) (show all 188)
# Title Authors Year
1
Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population - response. ( 30683432 )
2019
2
Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population. ( 30683433 )
2019
3
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. ( 30706531 )
2019
4
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. ( 30958311 )
2019
5
Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs. ( 29276154 )
2018
6
Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients. ( 29246495 )
2018
7
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. ( 29202483 )
2018
8
Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A. ( 29199996 )
2018
9
Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2. ( 29168276 )
2018
10
Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A. ( 30110925 )
2018
11
Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A. ( 29985472 )
2018
12
Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. ( 29729827 )
2018
13
Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A. ( 27917570 )
2017
14
Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score. ( 28914656 )
2017
15
Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. ( 27387831 )
2016
16
A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening. ( 27020035 )
2016
17
Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of charcot-marie-tooth disease type 1a. ( 25363904 )
2015
18
Erratum to: Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. ( 25904203 )
2015
19
Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. ( 25761374 )
2015
20
Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. ( 25576636 )
2015
21
Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study. ( 26349404 )
2015
22
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. ( 25519680 )
2014
23
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. ( 24515601 )
2014
24
Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. ( 24449066 )
2014
25
Pain and small fiber function in Charcot-Marie-Tooth disease type 1A. ( 24395492 )
2014
26
Usefulness of the modified F-ratio for assessments of proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed on Charcot Marie-Tooth disease type 1A. ( 24906712 )
2014
27
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
28
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. ( 24530202 )
2014
29
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. ( 23965405 )
2013
30
Quality of life in patients with Charcot-Marie-Tooth disease type 1A. ( 23828533 )
2013
31
Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study. ( 23819439 )
2013
32
Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? ( 23797977 )
2013
33
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. ( 23797954 )
2013
34
Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy. ( 23781967 )
2013
35
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. ( 25337104 )
2012
36
Gait pattern classification in children with Charcot-Marie-Tooth disease type 1A. ( 21944474 )
2012
37
Subclinical Charcot-Marie-Tooth disease type 1A in an ex-professional cyclist. ( 22104693 )
2012
38
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. ( 22378661 )
2012
39
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan. ( 22632984 )
2012
40
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. ( 22996176 )
2012
41
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. ( 21393063 )
2011
42
New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication. ( 21590514 )
2011
43
Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: prevalence and predictors. ( 22131544 )
2011
44
Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A. ( 19671887 )
2010
45
Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy. ( 20878740 )
2010
46
Tripod pinch strength and thumb opposition are the major determinants of manual dexterity in Charcot-Marie-Tooth disease type 1A. ( 20562406 )
2010
47
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. ( 20544937 )
2010
48
Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family. ( 20443018 )
2010
49
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. ( 20187762 )
2010
50
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. ( 19388151 )
2009

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

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

76 (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

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

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 PMP22, 1.4-MB DUP duplication Pathogenic
2 PMP22 NM_000304.3(PMP22): c.47T> C (p.Leu16Pro) single nucleotide variant Pathogenic rs104894617 GRCh37 Chromosome 17, 15163998: 15163998
3 PMP22 NM_000304.3(PMP22): c.47T> C (p.Leu16Pro) single nucleotide variant Pathogenic rs104894617 GRCh38 Chromosome 17, 15260681: 15260681
4 PMP22 NM_000304.3(PMP22): c.236C> G (p.Ser79Cys) single nucleotide variant Pathogenic rs104894618 GRCh37 Chromosome 17, 15142871: 15142871
5 PMP22 NM_000304.3(PMP22): c.236C> G (p.Ser79Cys) single nucleotide variant Pathogenic rs104894618 GRCh38 Chromosome 17, 15239554: 15239554
6 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh37 Chromosome 17, 15134364: 15134364
7 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh38 Chromosome 17, 15231047: 15231047
8 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
9 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh37 Chromosome 17, 15142826: 15142826
10 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh37 Chromosome 17, 15163980: 15163980
11 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh38 Chromosome 17, 15260663: 15260663
12 PMP22 NM_000304.3(PMP22): c.281delG (p.Gly94Alafs) deletion Pathogenic rs80338763 GRCh37 Chromosome 17, 15142826: 15142826
13 PMP22 NM_000304.3(PMP22): c.281delG (p.Gly94Alafs) deletion Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
14 PMP22 PMP22, 1.4-MB TRIPLICATION undetermined variant Pathogenic
15 PMP22 NM_000304.3(PMP22): c.185T> G (p.Leu62Arg) single nucleotide variant Uncertain significance rs756046682 GRCh38 Chromosome 17, 15239605: 15239605
16 PMP22 NM_000304.3(PMP22): c.185T> G (p.Leu62Arg) single nucleotide variant Uncertain significance rs756046682 GRCh37 Chromosome 17, 15142922: 15142922
17 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh38 Chromosome 17, 15230966: 15230966
18 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh37 Chromosome 17, 15134283: 15134283
19 PMP22 NM_000304.2(PMP22): c.327C> A (p.Cys109Ter) single nucleotide variant Pathogenic rs863225028 GRCh37 Chromosome 17, 15134390: 15134390
20 PMP22 NM_000304.2(PMP22): c.327C> A (p.Cys109Ter) single nucleotide variant Pathogenic rs863225028 GRCh38 Chromosome 17, 15231073: 15231073
21 PMP22 NM_000304.3(PMP22): c.235T> A (p.Ser79Thr) single nucleotide variant Likely pathogenic rs863225027 GRCh38 Chromosome 17, 15239555: 15239555
22 PMP22 NM_000304.3(PMP22): c.235T> A (p.Ser79Thr) single nucleotide variant Likely pathogenic rs863225027 GRCh37 Chromosome 17, 15142872: 15142872
23 PMP22 NM_000304.3(PMP22): c.478G> A (p.Glu160Lys) single nucleotide variant Uncertain significance rs1022583382 GRCh37 Chromosome 17, 15134239: 15134239
24 PMP22 NM_000304.3(PMP22): c.478G> A (p.Glu160Lys) single nucleotide variant Uncertain significance rs1022583382 GRCh38 Chromosome 17, 15230922: 15230922
25 PMP22 NC_000017.10: g.14087933_15500645dup duplication Pathogenic GRCh37 Chromosome 17, 14087933: 15500645
26 CDRT15; CDRT4; COX10; HS3ST3B1; PMP22; TEKT3; TVP23C; TVP23C-CDRT4 GRCh37/hg19 17p12(chr17: 14063251-15449627) copy number gain Pathogenic GRCh37 Chromosome 17, 14063251: 15449627
27 CDRT15; CDRT4; COX10; HS3ST3B1; PMP22; TEKT3; TVP23C; TVP23C-CDRT4 GRCh37/hg19 17p12(chr17: 14104012-15422557) copy number gain Pathogenic GRCh37 Chromosome 17, 14104012: 15422557
28 subset of 11 genes:PMP22 GRCh37/hg19 17p12(chr17: 14105874-15611546) copy number gain Pathogenic GRCh37 Chromosome 17, 14105874: 15611546

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 10.81 GJB1 MPZ PMP22

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 mitochondrion GO:0005739 9.02 ADCY10 COX10 GDAP1 KIF1B MFN2

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 protein targeting to mitochondrion GO:0006626 9.37 GDAP1 MFN2
2 peripheral nervous system development GO:0007422 9.32 EGR2 PMP22
3 mitochondrial fission GO:0000266 9.26 COX10 GDAP1
4 mitochondrial fusion GO:0008053 9.16 GDAP1 MFN2
5 myelin assembly GO:0032288 8.96 MTMR2 PMP22
6 myelination GO:0042552 8.8 EGR2 MPZ PMP22

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

3 CDC
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10 dbSNP
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17 EFO
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20 FMA
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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