CMT1A
MCID: CHR536
MIFTS: 58

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

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

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

Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 1a:

Name: Charcot-Marie-Tooth Disease, Type 1a 54 13
Charcot-Marie-Tooth Disease Type 1a 12 50 56 14
Cmt1a 12 24 56 66
Hereditary Motor and Sensory Neuropathy 1a 12 50 24
Charcot-Marie-Tooth Neuropathy Type 1a 12 24 66
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 54 50
Charcot-Marie-Tooth Disease 1a 66 29
Microduplication 17p12 12 56
Hmsn1a 12 66
Cmt 1a 50 24
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 66
Charcot-Marie-Tooth Disease Demyelinating Type 1a 66
Hereditary Motor and Sensory Neuropathy Ia 66
Charcot-Marie-Tooth Neuropathy, Type 1a 52
Charcot-Marie-Tooth Disease, Type Ia 69
Charcot Marie Tooth Disease Type 1a 50
Hmsn 1a 50
Hmsn Ia 66

Characteristics:

Orphanet epidemiological data:

56
charcot-marie-tooth disease type 1a
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
charcot-marie-tooth disease, type 1a:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity juvenile onset slow progression insidious onset


Classifications:



External Ids:

OMIM 54 118220
Disease Ontology 12 DOID:0110148
ICD10 33 G60.0
Orphanet 56 ORPHA101081
UMLS via Orphanet 70 C0270911
ICD10 via Orphanet 34 G60.0

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

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 1a, also known as charcot-marie-tooth disease type 1a, is related to charcot-marie-tooth disease, type 1e and charcot-marie-tooth neuropathy, and has symptoms including hearing impairment, impaired proprioception and pes cavus. An important gene associated with Charcot-Marie-Tooth Disease, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural Crest Differentiation and Alzheimers Disease Pathway. The drugs Vitamin C and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and spinal cord, and related phenotypes are behavior/neurological and cellular

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).

NIH Rare Diseases : 50 charcot-marie-tooth disease type 1a (cmt1a) is a type of inherited neurological disorder that affects the peripheral nerves. affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. 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. last updated: 9/7/2012

OMIM : 54 For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1,... (118220) more...

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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
Charcot-Marie-Tooth Disease 2z

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

(show top 50) (show all 63)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 1e 29.2 CMT1A EGR2 ERBB2 ERBB3 GJB1 KIF1B
2 charcot-marie-tooth neuropathy 11.4
3 roussy-levy syndrome 11.3
4 charcot-marie-tooth disease 11.3
5 tooth disease 11.3
6 charcot-marie-tooth disease, type 1b 11.0
7 neuropathy 10.8
8 hereditary neuropathy with liability to pressure palsy 10.7
9 hereditary neuropathies 10.7
10 chronic inflammatory demyelinating polyneuropathy 10.3
11 polyneuropathy 10.3
12 demyelinating polyneuropathy 10.3
13 hereditary type 2 neuropathy 10.2 MPZ PMP22
14 hypertonia 10.2 MPZ PMP22
15 rickets due to defect in vitamin d 25-hydroxylation 10.2 MBP MPZ
16 myasthenia gravis 10.2
17 myotonia congenita 10.2
18 myotonia 10.2
19 pitt-hopkins syndrome 10.2
20 charcot-marie-tooth disease, type 2i 10.1 KIF1B MPZ
21 charcot-marie-tooth disease, dominant intermediate d 10.1 KIF1B MPZ
22 craniorachischisis 10.1 MBP MPZ PMP22
23 von economo's disease 10.1 MBP MPZ PMP22
24 mohr-tranebjaerg syndrome 10.1 MBP MPZ PMP22
25 non-gestational choriocarcinoma 10.1 MBP MPZ PMP22
26 choreatic disease 10.1 MBP MPZ PMP22
27 status epilepticus 10.1 MBP MPZ PMP22
28 aortic aneurysm, familial thoracic 4 10.1 KIF1B MPZ
29 white piedra 10.1 MBP MPZ PMP22
30 spermatogenic failure, x-linked, 2 10.1 GJB1 MPZ
31 pituitary adenoma, prolactin-secreting 10.1 MPZ PMP22
32 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.1 KIF1B MPZ
33 wegmann jones smith syndrome 10.1 ERBB2 MPZ
34 anomalous left coronary artery from the pulmonary artery 10.0 ERBB2 ERBB3
35 surfactant metabolism dysfunction, pulmonary, 2 10.0 GJB1 MPZ PMP22
36 spastic paraplegia 44, autosomal recessive 10.0 GJB1 MBP
37 bladder lateral wall cancer 10.0 EGR2 PMP22
38 uterine ligament serous adenocarcinoma 10.0 GJB1 MPZ PMP22
39 williams-beuren syndrome 9.9 GJB1 KIF1B MPZ
40 parastremmatic dwarfism 9.9 GJB1 KIF1B MPZ
41 mikulicz disease 9.9 ERBB2 ERBB3
42 korsakoff's amnesic syndrome 9.9 GJB1 MBP MPZ PMP22
43 substance-induced psychosis 9.9 GJB1 MBP MPZ PMP22
44 pneumonic plague 9.8 GJB1 KIF1B MPZ PMP22
45 acute sanguinous otitis media 9.8 GJB1 KIF1B MPZ PMP22
46 dejerine-sottas disease 9.8 GJB1 KIF1B MPZ PMP22
47 infantile epileptic encephalopathy 9.8 GJB1 KIF1B MPZ PMP22
48 thrombophilia due to antithrombin iii deficiency 9.8 GJB1 KIF1B MPZ PMP22
49 conotruncal heart malformations 9.8 GJB1 KIF1B MPZ PMP22
50 chrna1-related congenital myasthenic syndrome 9.7 EGR2 GJB1 MPZ PMP22

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



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

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

Symptoms by clinical synopsis from OMIM:

118220

Clinical features from OMIM:

118220

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

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 impaired proprioception 32 HP:0010831
3 pes cavus 32 HP:0001761
4 decreased motor nerve conduction velocity 32 HP:0003431
5 impaired pain sensation 32 HP:0007328
6 areflexia 32 HP:0001284
7 split hand 32 HP:0001171
8 hyporeflexia 32 HP:0001265
9 kyphoscoliosis 32 HP:0002751
10 hammertoe 32 HP:0001765
11 distal muscle weakness 32 HP:0002460
12 steppage gait 32 HP:0003376
13 distal sensory impairment 32 HP:0002936
14 distal amyotrophy 32 HP:0003693
15 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
16 hypertrophic nerve changes 32 HP:0003382
17 foot dorsiflexor weakness 32 HP:0009027
18 impaired temperature sensation 32 HP:0010829
19 abnormal motor neuron morphology 32 HP:0002450
20 impaired vibratory sensation 32 HP:0002495
21 ulnar claw 32 HP:0001178
22 onion bulb formation 32 HP:0003383
23 cold-induced muscle cramps 32 HP:0003449
24 myelin outfoldings 32 HP:0004336
25 segmental peripheral demyelination/remyelination 32 HP:0003481

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 EGR2 ERBB2 ERBB3 GJB1 KIF1B MBP
2 cellular MP:0005384 9.87 EGR2 ERBB2 ERBB3 GJB1 MBP MPZ
3 homeostasis/metabolism MP:0005376 9.86 EGR2 ERBB2 ERBB3 GJB1 KIF1B MBP
4 mortality/aging MP:0010768 9.81 PMP22 EGR2 ERBB2 ERBB3 GJB1 KIF1B
5 muscle MP:0005369 9.35 ERBB2 ERBB3 KIF1B MYH6 PMP22
6 nervous system MP:0003631 9.23 EGR2 ERBB2 ERBB3 GJB1 KIF1B MBP

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

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
2 4-des-dimethylaminotetracycline Phase 2, Phase 3
3 Trace Elements Phase 2, Phase 3
4 Vitamins Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6 Micronutrients Phase 2, Phase 3
7 Antioxidants Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 3
9
protease inhibitors
10 HIV Protease Inhibitors
11 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
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 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
3 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
4 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
5 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
6 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
7 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2
8 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2
9 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
10 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Unknown status NCT01193088
11 Driving Ability in Patients With CMT 1A Completed NCT02357355
12 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
13 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type Ia 29
2 Charcot-Marie-Tooth Neuropathy Type 1a 24 PMP22

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

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

39
Testes, Skeletal Muscle, Spinal Cord

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

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

(show top 50) (show all 157)
id Title Authors Year
1
Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A. ( 27917570 )
2016
2
A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening. ( 27020035 )
2016
3
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
4
Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. ( 25576636 )
2015
5
Erratum to: Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. ( 25904203 )
2015
6
Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study. ( 26349404 )
2015
7
Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. ( 25761374 )
2015
8
Pain and small fiber function in Charcot Marie Tooth disease type 1A. ( 24395492 )
2014
9
Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of Charcot-Marie-Tooth disease type 1A. ( 25363904 )
2014
10
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
11
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. ( 24515601 )
2014
12
Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. ( 24449066 )
2014
13
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
14
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. ( 24646194 )
2014
15
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. ( 23965405 )
2013
16
Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy. ( 23781967 )
2013
17
Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? ( 23797977 )
2013
18
Quality of life in patients with Charcot-Marie-Tooth disease type 1A. ( 23828533 )
2013
19
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. ( 23797954 )
2013
20
Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study. ( 23819439 )
2013
21
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. ( 25337104 )
2012
22
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. ( 22378661 )
2012
23
Subclinical Charcot-Marie-Tooth disease type 1A in an ex-professional cyclist. ( 22104693 )
2012
24
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan. ( 22632984 )
2012
25
Gait pattern classification in children with Charcot-Marie-Tooth disease type 1A. ( 21944474 )
2012
26
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. ( 22996176 )
2012
27
Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: prevalence and predictors. ( 22131544 )
2011
28
New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication. ( 21590514 )
2011
29
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. ( 21393063 )
2011
30
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. ( 20187762 )
2010
31
Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family. ( 20443018 )
2010
32
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. ( 20544937 )
2010
33
Tripod pinch strength and thumb opposition are the major determinants of manual dexterity in Charcot-Marie-Tooth disease type 1A. ( 20562406 )
2010
34
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
35
Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy. ( 20878740 )
2010
36
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. ( 19818690 )
2009
37
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. ( 19388151 )
2009
38
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. ( 19923170 )
2009
39
Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication. ( 20225026 )
2009
40
The alpha-chemokine CXCL14 is up-regulated in the sciatic nerve of a mouse model of Charcot-Marie-Tooth disease type 1A and alters myelin gene expression in cultured Schwann cells. ( 19111616 )
2009
41
Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. ( 19427269 )
2009
42
Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn. ( 19433282 )
2009
43
Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? ( 19818689 )
2009
44
Neuropathy progression in Charcot-Marie-Tooth disease type 1A. ( 18227419 )
2008
45
Nerve-dependent changes in skeletal muscle myosin heavy chain after experimental denervation and cross-reinnervation and in a demyelinating mouse model of Charcot-Marie-Tooth disease type 1A. ( 19016545 )
2008
46
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. ( 18602827 )
2008
47
[Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. ( 18616154 )
2008
48
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. ( 18438698 )
2008
49
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. ( 18844790 )
2008
50
Analysis of the benefits of vitamin cocktails in treating Charcot-Marie-Tooth disease type 1A. ( 18663735 )
2008

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

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

66 (show all 11)
id 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, Type 1a:

6
id 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.236C> G (p.Ser79Cys) single nucleotide variant Pathogenic rs104894618 GRCh37 Chromosome 17, 15142871: 15142871
4 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
5 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh37 Chromosome 17, 15163980: 15163980
6 PMP22 NM_000304.3(PMP22): c.281delG (p.Gly94Alafs) deletion Pathogenic rs786205112 GRCh37 Chromosome 17, 15142826: 15142826
7 PMP22 PMP22, 1.4-MB TRIPLICATION undetermined variant Pathogenic
8 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh38 Chromosome 17, 15230966: 15230966
9 PMP22 NM_000304.3(PMP22): c.327C> A (p.Cys109Ter) single nucleotide variant Pathogenic rs863225028 GRCh37 Chromosome 17, 15134390: 15134390
10 PMP22 NM_000304.3(PMP22): c.235T> A (p.Ser79Thr) single nucleotide variant Likely pathogenic rs863225027 GRCh38 Chromosome 17, 15239555: 15239555

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

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

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

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

id Super pathways Score Top Affiliating Genes
1 10.93 GJB1 MBP MPZ PMP22
2 10.81 ERBB2 ERBB3
3 10.62 ERBB2 ERBB3 PMP22

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

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

id Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.13 ERBB2 ERBB3 MPZ
2 myelin sheath GO:0043209 8.8 ERBB2 MBP MPZ

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

id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.65 ERBB2 ERBB3 MBP
2 chemical synaptic transmission GO:0007268 9.61 MBP MPZ PMP22
3 ERBB2 signaling pathway GO:0038128 9.46 ERBB2 ERBB3
4 regulation of cell motility GO:2000145 9.4 ERBB2 ERBB3
5 phosphatidylinositol 3-kinase signaling GO:0014065 9.37 ERBB2 ERBB3
6 motor neuron axon guidance GO:0008045 9.32 EGR2 ERBB2
7 negative regulation of ERBB signaling pathway GO:1901185 9.26 ERBB2 ERBB3
8 peripheral nervous system development GO:0007422 9.26 EGR2 ERBB2 ERBB3 PMP22
9 Schwann cell differentiation GO:0014037 9.16 EGR2 ERBB3
10 myelination GO:0042552 9.02 EGR2 ERBB2 MBP MPZ PMP22

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 ERBB2 ERBB3
2 growth factor binding GO:0019838 8.62 ERBB2 ERBB3

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

3 CDC
7 CNVD
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16 ExPASy
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38 LifeMap
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67 TGDB
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