Charcot-Marie-Tooth Disease, Type 1e (CMT1E) malady

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

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

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

Name: Charcot-Marie-Tooth Disease, Type 1e 54 13
Charcot-Marie-Tooth Disease Type 1e 12 50 56 14
Charcot-Marie-Tooth Disease and Deafness 54 12 50
Charcot-Marie-Tooth Disease Type 1 12 50 14
Cmt1e 12 56 66
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 50 69
Charcot-Marie-Tooth Disease Demyelinating Type 1e 12 66
Hereditary Motor and Sensory Neuropathy Type 1 12 50
Charcot-Marie-Tooth Disease-Deafness Syndrome 56 29
Charcot-Marie-Tooth Disease 1e 66 29
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 50
Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness 12
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 50
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 66
Hereditary Motor and Sensory Neuropathy Type I 69
Hereditary Motor and Sensory Neuropathy 1 50
Charcot-Marie-Tooth Neuropathy Type 1e 66
Charcot-Marie-Tooth Neuropathy Type 1 50
Charcot-Marie-Tooth Disease-Deafness 12
Charcot Marie Tooth Disease Type 1e 50
Charcot-Marie-Tooth Type 1 50
Cmt 1e 50
Hmsn1 50
Cmt1 50


Orphanet epidemiological data:

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


charcot-marie-tooth disease, type 1e:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset childhood onset


External Ids:

OMIM 54 118300
Disease Ontology 12 DOID:0050538 DOID:0110153
ICD10 33 G60.0
Orphanet 56 ORPHA90658
MESH via Orphanet 43 C537986 C538078
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 70 C1861669 C2931686
MeSH 42 D002607

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

NIH Rare Diseases : 50 charcot-marie-tooth disease type 1 (cmt1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. symptoms often begin between age 5 and 25, and the condition is usually slowly progressive. signs and symptoms include distal muscle weakness and wasting (atrophy); sensory loss; and slow nerve conduction velocity. it is often associated with pes cavus foot deformity (high arch) and bilateral foot drop. fewer than 5% of people with cmt1 become wheelchair dependent. cmt1 is inherited in an autosomal dominant manner. it is most often caused by a mutation called a duplication involving the pmp22 gene (designated cmt1a). it can also be caused by other types of mutations in the mpz, litaf, egr2, pmp22 or nefl genes. treatment may involve physical or occupational therapy; the use of special shoes, braces or other orthopedic devices; surgery for severe pes cavus; canes or wheelchairs for mobility; and pain medication as needed. last updated: 11/1/2016

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 1e, also known as charcot-marie-tooth disease type 1e, is related to pmp2-related charcot-marie-tooth disease type 1 and charcot-marie-tooth neuropathy, x-linked dominant, 1, and has symptoms including sensorineural hearing impairment, pes cavus and decreased motor nerve conduction velocity. An important gene associated with Charcot-Marie-Tooth Disease, Type 1e is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural Crest Differentiation and NgR-p75(NTR)-Mediated Signaling. The drugs Vitamin C and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related phenotypes are behavior/neurological and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 Charcot-Marie-Tooth disease 1E: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)

Description from OMIM: 118300

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

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

(show top 50) (show all 75)
id Related Disease Score Top Affiliating Genes
1 pmp2-related charcot-marie-tooth disease type 1 12.2
2 charcot-marie-tooth neuropathy, x-linked dominant, 1 11.4
3 charcot-marie-tooth disease, type 1a 11.4
4 charcot-marie-tooth disease, type 1d 11.4
5 charcot-marie-tooth disease, type 1c 11.4
6 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 11.3
7 charcot-marie-tooth neuropathy type 1 11.2
8 roussy-levy syndrome 11.2
9 charcot-marie-tooth disease, type 1b 11.2
10 charcot-marie-tooth disease, type 1f 11.2
11 neuropathy 10.5
12 craniorachischisis 10.3 MPZ PMP22
13 hypertonia 10.3 MPZ PMP22
14 hereditary neuropathy with liability to pressure palsy 10.3
15 hereditary neuropathies 10.3
16 bladder lateral wall cancer 10.2 EGR2 PMP22
17 charcot-marie-tooth disease 10.2
18 tooth disease 10.2
19 charcot-marie-tooth disease, type 2i 10.2 KIF1B MPZ
20 charcot-marie-tooth disease, dominant intermediate d 10.2 KIF1B MPZ
21 childhood infratentorial neoplasm 10.2 LITAF PMP22
22 partington syndrome 10.2 GJB1 SULT2B1
23 von economo's disease 10.2 MPZ PMP22
24 lowe syndrome 10.2 GJB1 SULT2B1
25 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.2 KIF1B MPZ
26 pituitary adenoma, prolactin-secreting 10.2 MPZ PMP22
27 chondrodysplasia punctata 2, x-linked 10.2 KIF1B LITAF
28 surfactant metabolism dysfunction, pulmonary, 2 10.2 GJB1 MPZ PMP22
29 non-gestational choriocarcinoma 10.2 MPZ PMP22
30 hereditary type 2 neuropathy 10.1 LITAF MPZ PMP22
31 williams-beuren syndrome 10.1 GJB1 KIF1B MPZ
32 5-oxoprolinase deficiency 10.1 GDAP1 GJB1
33 rickets due to defect in vitamin d 25-hydroxylation 10.1 MAG MPZ
34 chronic inflammatory demyelinating polyneuropathy 10.1
35 polyneuropathy 10.1
36 demyelinating polyneuropathy 10.1
37 glomangiosarcoma 10.1 MAG PMP22
38 aortic aneurysm, familial thoracic 4 10.1 KIF1B LITAF MPZ
39 spermatogenic failure, x-linked, 2 10.1 GDAP1 GJB1 MPZ
40 mitochondrial complex v deficiency, nuclear type 2 10.1 GDAP1 KIF1B
41 chrna1-related congenital myasthenic syndrome 10.0 EGR2 GJB1 MPZ PMP22
42 mohr-tranebjaerg syndrome 10.0 MAG MPZ PMP22
43 status epilepticus 10.0 MAG MPZ PMP22
44 white piedra 10.0 MAG MPZ PMP22
45 pneumonic plague 10.0 GJB1 KIF1B MPZ PMP22
46 acute sanguinous otitis media 10.0 GJB1 KIF1B MPZ PMP22
47 aortic valve prolapse 10.0 MAG PMP22
48 short stature, idiopathic familial 10.0 GDAP1 MTMR2
49 wegmann jones smith syndrome 10.0 MAG MPZ
50 yunis-varon syndrome 10.0 GDAP1 MTMR2

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

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

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

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


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

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 pes cavus 32 HP:0001761
3 decreased motor nerve conduction velocity 32 HP:0003431
4 areflexia 32 HP:0001284
5 split hand 32 HP:0001171
6 hyporeflexia 32 HP:0001265
7 hammertoe 32 HP:0001765
8 distal muscle weakness 32 HP:0002460
9 steppage gait 32 HP:0003376
10 distal sensory impairment 32 HP:0002936
11 distal amyotrophy 32 HP:0003693
12 talipes calcaneovalgus 32 HP:0001884
13 foot dorsiflexor weakness 32 HP:0009027

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

id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 EGR2 GDAP1 GJB1 KIF1B MAG MPZ
2 homeostasis/metabolism MP:0005376 9.61 ACKR1 EGR2 GDAP1 GJB1 KIF1B LITAF
3 nervous system MP:0003631 9.28 MAG MPZ MTMR2 PMP22 EGR2 GDAP1

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

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

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
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,Phase 2
Acetylcholine Approved Phase 2,Phase 1 51-84-3 187
10 Cholinergic Agents Phase 2,Phase 1
11 Neuromuscular Agents Phase 2,Phase 1
12 Neurotransmitter Agents Phase 2,Phase 1
13 Peripheral Nervous System Agents Phase 2,Phase 1
14 abobotulinumtoxinA Phase 2,Phase 1
15 incobotulinumtoxinA Phase 2,Phase 1
16 onabotulinumtoxinA Phase 2,Phase 1
17 Botulinum Toxins Phase 2,Phase 1
18 Botulinum Toxins, Type A Phase 2,Phase 1
19 serine Nutraceutical Phase 1, Phase 2
Epinephrine Approved, Vet_approved 51-43-4 5816
Lidocaine Approved, Vet_approved 137-58-6 3676
Menthol Approved 2216-51-5 16666
protease inhibitors
24 HIV Protease Inhibitors
25 Matrix Metalloproteinase Inhibitors
26 Mydriatics
27 Adrenergic Agents
28 Adrenergic Agonists
29 Adrenergic alpha-Agonists
30 Adrenergic beta-Agonists
31 Anesthetics
32 Vasoconstrictor Agents
33 Epinephryl borate
34 Anti-Asthmatic Agents
35 Racepinephrine
36 Respiratory System Agents
37 Autonomic Agents
38 Bronchodilator Agents
39 Central Nervous System Depressants
40 Calamus Nutraceutical

Interventional clinical trials:

(show all 26)
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 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2
8 Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral Nerves Completed NCT00665132 Phase 1, Phase 2
9 Acupuncture for Carpal Tunnel Syndrome Completed NCT00000394 Phase 2
10 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2
11 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2
12 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2
13 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Active, not recruiting NCT01733407 Phase 1, Phase 2
14 Botulinum Toxin Injections for Thoracic Outlet Syndrome Unknown status NCT01405482 Phase 1
15 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
16 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Unknown status NCT01193088
17 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Unknown status NCT01193075
18 Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel Syndrome Completed NCT02217293
19 Non-surgical Treatment of Carpal Tunnel Syndrome by Means of Mechanical Traction Completed NCT01949493
20 Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611) Recruiting NCT02979145
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Platelet Rich Plasma and Hydrodissection for Carpal Tunnel Syndrome Recruiting NCT02986828
23 The Effect of Platelet Rich Plasma for Carpal Tunnel Syndrome Recruiting NCT02539186
24 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191
25 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Not yet recruiting NCT02982343
26 Surgical Treatment of Carpal Tunnel Syndrome: Local Anesthesia With Epinephrine x Intravenous Regional Anesthesia. Not yet recruiting NCT02986347

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease and Deafness 29
2 Charcot-Marie-Tooth Disease, Type I 29

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

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

Brain, Spinal Cord

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

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

id Title Authors Year
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. ( 23781966 )

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

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

id Symbol AA change Variation ID SNP ID
1 PMP22 p.Ala67Pro VAR_009661 rs104894623
2 PMP22 p.Thr23Arg VAR_029961
3 PMP22 p.Trp28Arg VAR_029963 rs104894626

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

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh37 Chromosome 17, 15142892: 15142892
2 PMP22 NM_000304.3(PMP22): c.36C> A (p.His12Gln) single nucleotide variant Pathogenic rs104894622 GRCh37 Chromosome 17, 15164009: 15164009
3 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
4 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh37 Chromosome 17, 15162507: 15162507
5 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh38 Chromosome 17, 15231045: 15231056
6 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh37 Chromosome 17, 15134248: 15134248
7 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913588 GRCh37 Chromosome 1, 161276537: 161276537
8 MPZ NM_000530.7(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
9 MPZ NM_000530.7(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh37 Chromosome 1, 161276512: 161276512
10 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh37 Chromosome 10, 64573323: 64573323
11 MPZ NM_000530.7(MPZ): c.487G> C (p.Gly163Arg) single nucleotide variant Pathogenic/Likely pathogenic rs281865128 GRCh37 Chromosome 1, 161276216: 161276216
12 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh37 Chromosome 17, 15162472: 15162472
13 MPZ NM_000530.7(MPZ): c.116A> C (p.His39Pro) single nucleotide variant Pathogenic rs371856018 GRCh38 Chromosome 1, 161307376: 161307376
14 PMP22 NM_000304.2(PMP22): c.(?_-1)_(*1_?)del deletion Pathogenic
15 PMP22 NM_000304.2(PMP22): c.(?_-1)_(*1_?)dup duplication Pathogenic
16 MPZ NM_000530.7(MPZ): c.106A> T (p.Arg36Trp) single nucleotide variant Pathogenic rs864622732 GRCh37 Chromosome 1, 161277176: 161277176
17 EGR2 NM_000399.4(EGR2): c.1226G> A (p.Arg409Gln) single nucleotide variant Pathogenic/Likely pathogenic rs864622273 GRCh37 Chromosome 10, 64573172: 64573172
18 PMP22 NM_000304.3(PMP22): c.280_281delGGinsT (p.Gly94Serfs) indel Pathogenic rs864622678 GRCh37 Chromosome 17, 15142826: 15142827
19 PMP22 NM_000304.3(PMP22): c.138delC (p.Ser47Glnfs) deletion Pathogenic rs864622180 GRCh37 Chromosome 17, 15162451: 15162451
20 PMP22 NM_000304.3(PMP22): c.-34-?_*1140dup1657 duplication Pathogenic GRCh37 Chromosome 17, 15133094: 15164078
21 PMP22 NM_000304.3(PMP22): c.-34-?_*1140del deletion Pathogenic GRCh37 Chromosome 17, 15133094: 15164078
22 MPZ NM_000530.7(MPZ): c.233C> G (p.Ser78Trp) single nucleotide variant Pathogenic rs121913601 GRCh38 Chromosome 1, 161307259: 161307259
23 MPZ NM_000530.7(MPZ): c.380_383dupGTGA (p.Asp128Glufs) duplication Pathogenic GRCh38 Chromosome 1, 161306773: 161306776

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

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

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

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

id Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22
2 10.62 GDAP1 MAG

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

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

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.26 EGR2 LITAF MTMR2 SULT2B1
2 compact myelin GO:0043218 8.62 MAG PMP22

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 9.26 MAG PMP22
2 peripheral nervous system development GO:0007422 9.16 EGR2 PMP22
3 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 8.96 MAG MPZ
4 myelination GO:0042552 8.8 EGR2 MPZ PMP22

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

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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