CMT1A
MCID: CHR627
MIFTS: 56

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 56 52
Charcot-Marie-Tooth Disease Type 1a 12 74 52 58 15
Charcot-Marie-Tooth Disease, Type Ia 29 6 39 71
Cmt1a 56 12 58 73
Hmsn1a 56 12 73
Hereditary Motor and Sensory Neuropathy Ia 56 73
Hereditary Motor and Sensory Neuropathy 1a 12 52
Charcot-Marie-Tooth Neuropathy, Type 1a 56 54
Charcot-Marie-Tooth Neuropathy Type 1a 12 73
Charcot-Marie-Tooth Disease, Type 1a 56 13
Microduplication 17p12 12 58
Hmsn Ia 56 73
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a 56
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 73
Hereditary Motor and Sensory Neuropathy Ia; Hmsn Ia 56
Charcot-Marie-Tooth Disease Demyelinating Type 1a 73
Charcot Marie Tooth Disease Type 1a 52
Charcot-Marie-Tooth Disease 1a 73
Hmsn 1a 52
Cmt 1a 52

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:

56
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

NIH Rare Diseases : 52 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 Baclofen and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and skin, 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 : 56 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 : 73 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 : 74 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies of the... 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 156)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 32.8 PMP22 MPZ
2 charcot-marie-tooth disease, axonal, type 2a1 31.4 MPZ MFN2 KIF1B GDAP1 ARHGEF10
3 carpal tunnel syndrome 31.0 SH3TC2 PMP22 MPZ
4 hereditary neuropathies 30.9 PRX PMP22 MTMR2 MPZ MFN2 GJB1
5 foot drop 30.8 PMP22 MPZ
6 chronic polyneuropathy 30.7 PMP22 GJB1
7 pelizaeus-merzbacher disease 30.7 TSPAN4 PMP22 MPZ
8 charcot-marie-tooth disease, axonal, type 2b2 30.1 NEFL MPZ MFN2 KIF1B GDAP1
9 spinal muscular atrophy 30.0 SH3TC2 PMP22 NEFL LITAF
10 polyneuropathy 29.6 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
11 neuropathy 29.4 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
12 tooth disease 29.0 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
13 motor peripheral neuropathy 28.9 SH3TC2 PMP22 PES1 NEFL LITAF GJB1
14 charcot-marie-tooth disease, type 4c 28.7 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
15 charcot-marie-tooth disease, x-linked dominant, 1 28.4 SH3TC2 PRX PMP22 PES1 MTMR2 MPZ
16 neuropathy, hereditary, with liability to pressure palsies 28.2 TVP23B TSPAN4 TEKT3 SH3TC2 SBF2 PRX
17 charcot-marie-tooth disease, demyelinating, type 1b 27.9 SH3TC2 SBF2 PRX PMP22 PES1 MTMR2
18 sensory peripheral neuropathy 27.9 SH3TC2 SBF2 PRX PMP22 PES1 MTMR2
19 peripheral nervous system disease 27.7 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
20 hypertrophic neuropathy of dejerine-sottas 27.5 TSPAN4 SH3TC2 SBF2 PRX PMP22 PES1
21 charcot-marie-tooth disease 27.4 TVP23B TSPAN4 TEKT3 SH3TC2 SBF2 PRX
22 charcot-marie-tooth disease and deafness 27.3 TSPAN4 TEKT3 SH3TC2 SBF2 PRX PMP22
23 neuropathy, hereditary, with or without age-related macular degeneration 11.2
24 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.2
25 yuan-harel-lupski syndrome 11.2
26 tremor 10.7
27 amyotrophic lateral sclerosis 1 10.6
28 ataxia and polyneuropathy, adult-onset 10.6
29 lateral sclerosis 10.6
30 charcot-marie-tooth hereditary neuropathy 10.6
31 charcot-marie-tooth disease type 2a 10.5 MFN2 KIF1B
32 polyradiculoneuropathy 10.5
33 gdap1-related hereditary motor and sensory neuropathy 10.5
34 peroneal nerve paralysis 10.5 PMP22 PES1
35 autoimmune peripheral neuropathy 10.4 MPZ GJB1
36 charcot-marie-tooth neuropathy type 2a 10.4 MFN2 KIF1B
37 muscular dystrophy, duchenne type 10.4
38 hypothyroidism 10.4
39 argyll robertson pupil 10.4 PES1 MPZ GDAP1
40 pupil disease 10.4 PES1 MPZ GDAP1
41 charcot-marie-tooth disease x-linked recessive 4 10.4 PES1 MPZ GJB1
42 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.4 MPZ GJB1 EGR2
43 progressive familial heart block, type ia 10.4
44 erythermalgia, primary 10.4
45 rheumatoid arthritis 10.4
46 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
47 myasthenia gravis 10.4
48 branchiootic syndrome 1 10.4
49 body mass index quantitative trait locus 1 10.4
50 pitt-hopkins syndrome 10.4

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 decreased motor nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003431
4 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
5 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
6 sensory ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0010871
7 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
8 decreased sensory nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003448
9 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
10 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
11 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
12 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
13 spontaneous pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010833
14 diaphragmatic weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009113
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 areflexia 31 HP:0001284
21 peripheral neuropathy 31 HP:0009830
22 impaired proprioception 31 HP:0010831
23 impaired pain sensation 31 HP:0007328
24 impaired temperature sensation 31 HP:0010829
25 split hand 31 HP:0001171
26 distal amyotrophy 31 HP:0003693
27 foot dorsiflexor weakness 31 HP:0009027
28 limb muscle weakness 31 HP:0003690
29 hammertoe 31 HP:0001765
30 steppage gait 31 HP:0003376
31 demyelinating peripheral neuropathy 58 Frequent (79-30%)
32 impaired vibratory sensation 31 HP:0002495
33 segmental peripheral demyelination/remyelination 31 HP:0003481
34 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
35 hypertrophic nerve changes 31 HP:0003382
36 onion bulb formation 31 HP:0003383
37 abnormal motor neuron morphology 31 HP:0002450
38 ulnar claw 31 HP:0001178
39 cold-induced muscle cramps 31 HP:0003449
40 myelin outfoldings 31 HP:0004336

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
cold-induced muscle cramps
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

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-2 10.09 GJB1
2 Decreased viability GR00381-A-1 10.09 MPZ PES1 PRX SH3TC2 TEKT3
3 Decreased viability GR00381-A-3 10.09 MPZ
4 Decreased viability GR00402-S-2 10.09 ARHGEF10 ATAD2 EGR2 GDAP1 GJB1 KIF1B
5 no effect GR00402-S-1 9.62 ARHGEF10 ATAD2 EGR2 GDAP1 GJB1 KIF1B

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ARHGEF10 EGR2 GDAP1 GJB1 KIF1B MFN2
2 nervous system MP:0003631 9.47 ARHGEF10 EGR2 GDAP1 GJB1 KIF1B LITAF

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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 3 1134-47-0 2284
2
Sorbitol Approved Phase 3 50-70-4 5780
3
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
4
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
5 Vitamins Phase 2, Phase 3
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 Protective Agents Phase 2, Phase 3
11 Pharmaceutical Solutions Phase 3
12 4-des-dimethylaminotetracycline Phase 1, Phase 2
13
protease inhibitors Phase 1, Phase 2
14 HIV Protease Inhibitors Phase 1, Phase 2
15 Matrix Metalloproteinase Inhibitors Phase 1, Phase 2
16 Ulipristal acetate Phase 2 126784-99-4
17 Contraceptive Agents Phase 2

Interventional clinical trials:

(show all 20)
# 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 International, Multi-center, Open Label, 9-month 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
5 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
6 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
7 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Not yet 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 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
12 Driving Ability in Patients With CMT 1A Completed NCT02357355
13 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
14 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
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
17 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 Recruiting NCT03715283
18 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075
19 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Active, not recruiting NCT03386266
20 Investigation of Plastic Changes in the CNS Associated With Peripheral Neuropathy Not yet recruiting NCT03805893

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
Testes, Skeletal Muscle, Skin, Brain, Spinal Cord, Heart, 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 742)
# Title Authors PMID Year
1
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. 61 56 6
24530202 2014
2
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 61 56 6
15205993 2004
3
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. 61 56 6
1303281 1992
4
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. 61 56 6
1301995 1992
5
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. 61 56 6
1677316 1991
6
De-novo mutation in hereditary motor and sensory neuropathy type I. 56 6
1349106 1992
7
Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). 56 6
1564512 1992
8
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. 54 61 56
10489052 1999
9
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. 54 61 56
8834051 1996
10
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. 61 56
21280073 2011
11
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. 61 56
19888301 2010
12
PMP22 expression in dermal nerve myelin from patients with CMT1A. 61 56
19447823 2009
13
Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a. 61 56
18852440 2008
14
Neuropathy progression in Charcot-Marie-Tooth disease type 1A. 61 56
18227419 2008
15
Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. 61 56
17262851 2007
16
NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. 61 56
16157899 2005
17
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 61 56
11835375 2002
18
Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. 61 56
11214130 2001
19
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. 61 56
9842994 1998
20
Charcot-Marie-Tooth Neuropathy Type 1 61 6
20301384 1998
21
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. 61 56
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 56
8644705 1996
23
Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development. 61 56
8847735 1995
24
Inheritance of CMT1A duplication from a mosaic father. 61 56
7666403 1995
25
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. 61 56
8615087 1995
26
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. 61 56
7853375 1994
27
Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. 61 56
7834893 1994
28
Detection of tandem duplications and implications for linkage analysis. 61 56
8198134 1994
29
Genetic basis of inherited peripheral neuropathies. 61 56
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. 61 56
8418668 1993
33
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. 61 6
1303229 1992
34
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. 61 56
1729894 1992
35
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. 61 6
1552536 1992
36
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
37
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. 61 6
1721895 1991
38
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. 61 56
1674726 1991
39
Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17. 61 56
2365358 1990
40
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 56
21326314 2011
41
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes. 56
19705173 2010
42
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 6
19259128 2009
43
Severe phenotype with cis-acting heterozygous PMP22 mutations. 6
19067730 2009
44
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. 56
17701891 2007
45
Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A. 56
17353481 2007
46
Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease. 56
17159111 2006
47
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. 56
16252242 2005
48
Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! 56
16043782 2005
49
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. 6
15786462 2005
50
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. 56
15034573 2004

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

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

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMP22 PMP22, 1.4-MB DUPduplication Pathogenic 8427
2 PMP22 NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)SNV Pathogenic 8428 rs104894617 17:15163998-15163998 17:15260681-15260681
3 PMP22 NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)SNV Pathogenic 8429 rs104894618 17:15142871-15142871 17:15239554-15239554
4 PMP22 NM_000304.4(PMP22):c.434del (p.Leu145fs)deletion Pathogenic 217238 rs863225029 17:15134283-15134283 17:15230966-15230966
5 PMP22 NM_000304.4(PMP22):c.281dup (p.Arg95fs)duplication Pathogenic 8437 rs80338763 17:15142825-15142826 17:15239508-15239509
6 PMP22 NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)SNV Pathogenic 8445 rs104894625 17:15163980-15163980 17:15260663-15260663
7 PMP22 duplication Pathogenic 598751 17:14087933-15500645
8 CDRT15 , CDRT4 , COX10 , HS3ST3B1 , PMP22 , TEKT3 , TVP23C , TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14063251-15449627)copy number gain Pathogenic 625724 17:14063251-15449627
9 CDRT15 , CDRT4 , COX10 , HS3ST3B1 , PMP22 , TEKT3 , TVP23C , TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14104012-15422557)copy number gain Pathogenic 625726 17:14104012-15422557
10 subset of 11 genes: PMP22 GRCh37/hg19 17p12(chr17:14105874-15611546)copy number gain Pathogenic 625728 17:14105874-15611546
11 PMP22 PMP22, 1.4-MB TRIPLICATIONundetermined variant Pathogenic 127097
12 PMP22 NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)SNV Likely pathogenic 217236 rs863225027 17:15142872-15142872 17:15239555-15239555
13 PMP22 NM_000304.4(PMP22):c.281del (p.Gly94fs)deletion Conflicting interpretations of pathogenicity 30158 rs80338763 17:15142826-15142826 17:15239509-15239509
14 PMP22 NM_000304.4(PMP22):c.353C>T (p.Thr118Met)SNV Conflicting interpretations of pathogenicity 8431 rs104894619 17:15134364-15134364 17:15231047-15231047
15 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)SNV Uncertain significance 462781 rs1022583382 17:15134239-15134239 17:15230922-15230922
16 PMP22 NM_000304.4(PMP22):c.362A>G (p.His121Arg)SNV Uncertain significance 586345 rs1567698985 17:15134355-15134355 17:15231038-15231038
17 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)SNV Uncertain significance 188195 rs756046682 17:15142922-15142922 17:15239605-15239605

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

73 (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 10.81 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 membrane GO:0016020 9.83 TVP23B TSPAN4 TEKT3 SBF2 PRX PMP22
2 vacuolar membrane GO:0005774 9.16 SBF2 MTMR2
3 axon GO:0030424 9.02 SBF2 NRG1 NEFL MTMR2 KIF1B

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 peripheral nervous system development GO:0007422 9.33 PMP22 NRG1 EGR2
2 mitochondrial fusion GO:0008053 9.32 MFN2 GDAP1
3 myelin assembly GO:0032288 9.26 PMP22 MTMR2
4 myelination in peripheral nervous system GO:0022011 9.13 SH3TC2 NRG1 ARHGEF10
5 myelination GO:0042552 8.92 SBF2 PMP22 MPZ 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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