CMT1E
MCID: CHR629
MIFTS: 55

Charcot-Marie-Tooth Disease and Deafness (CMT1E)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease and Deafness

MalaCards integrated aliases for Charcot-Marie-Tooth Disease and Deafness:

Name: Charcot-Marie-Tooth Disease and Deafness 57 12 20 29 6
Charcot-Marie-Tooth Disease Type 1e 12 20 58 15
Charcot-Marie-Tooth Disease Type 1 12 20 58 15
Cmt1e 57 12 58 72
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 57 20 70
Hereditary Motor and Sensory Neuropathy Type 1 12 20 58
Charcot-Marie-Tooth Disease, Type I 29 6 39
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 57 20
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 20 58
Charcot-Marie-Tooth Disease Demyelinating Type 1e 12 72
Charcot-Marie-Tooth Neuropathy Type 1 20 58
Charcot-Marie-Tooth Disease, Type 1e 57 13
Cmt1 20 58
Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness 12
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 72
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e; Cmt1e 57
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome 58
Hereditary Motor and Sensory Neuropathy Type I 70
Charcot-Marie-Tooth Disease-Deafness Syndrome 58
Hereditary Motor and Sensory Neuropathy 1 20
Charcot-Marie-Tooth Neuropathy Type 1e 72
Charcot-Marie-Tooth Disease-Deafness 12
Charcot-Marie-Tooth Disease, Type Ie 39
Charcot Marie Tooth Disease Type 1e 20
Charcot-Marie-Tooth Disease 1e 72
Charcot-Marie-Tooth Type 1 20
Cmt 1e 20
Hmsn1 20

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 1
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;
charcot-marie-tooth disease type 1e
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
childhood onset
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
allelic disorders with overlapping phenotypes include cmt1a , hereditary neuropathy with liability to pressure palsies (hnpp, ), and dejerine-sottas syndrome (dss, )

Inheritance:
autosomal dominant


HPO:

31
charcot-marie-tooth disease and deafness:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050538 DOID:0110153
OMIM® 57 118300
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
MESH via Orphanet 45 C537986 C538078
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C0751036 C1861669 C2931686 more
UMLS 70 C0751036 C3495591

Summaries for Charcot-Marie-Tooth Disease and Deafness

GARD : 20 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. There are 6 different subtypes CMT1A CMT1B, CMT1C, CMT1D and CMT1F/ CMT2E, caused by different pathogenic variants ( mutations )involving the PMP22 gene (designated CMT1A), or 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.

MalaCards based summary : Charcot-Marie-Tooth Disease and Deafness, also known as charcot-marie-tooth disease type 1e, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, demyelinating, type 1d. An important gene associated with Charcot-Marie-Tooth Disease and Deafness is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and brain, and related phenotypes are sensorineural hearing impairment and split hand

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).

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 118300 PS118220

Related Diseases for Charcot-Marie-Tooth Disease and Deafness

Diseases related to Charcot-Marie-Tooth Disease and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 32.6 PMP22 MPZ
2 charcot-marie-tooth disease, demyelinating, type 1d 32.6 PRX PMP22 MTMR2 MPZ LITAF GJB1
3 charcot-marie-tooth disease, demyelinating, type 1f 32.5 SBF2 NEFL MTMR2 MPZ LITAF GJB1
4 charcot-marie-tooth disease, x-linked dominant, 1 32.4 SPTLC1 SH3TC2 PRX PMP22 NEFL MTMR2
5 charcot-marie-tooth disease, dominant intermediate a 32.2 PRX MPZ GJB1 GDAP1
6 charcot-marie-tooth disease, demyelinating, type 1a 32.1 SPTLC1 SH3TC2 SBF2 PRX PMP22 NEFL
7 charcot-marie-tooth disease, axonal, type 2w 31.9 MPZ GJB1 GDAP1
8 charcot-marie-tooth disease, type 4k 31.8 SH3TC2 LITAF
9 charcot-marie-tooth disease, axonal, type 2t 31.8 SH3TC2 LRSAM1 GDAP1
10 charcot-marie-tooth disease, axonal, type 2b1 31.8 MFN2 LRSAM1 GDAP1
11 charcot-marie-tooth disease, demyelinating, type 1c 31.8 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
12 charcot-marie-tooth disease, axonal, type 2u 31.8 GJB1 GARS1
13 charcot-marie-tooth disease, axonal, type 2r 31.8 LRSAM1 GDAP1
14 charcot-marie-tooth disease, axonal, type 2p 31.7 LRSAM1 LITAF GDAP1 ARHGEF10
15 charcot-marie-tooth disease, axonal, type 2n 31.7 GDAP1 GARS1
16 charcot-marie-tooth disease, axonal, type 2a1 31.7 MPZ MFN2 LRSAM1 HSPB8 GDAP1
17 charcot-marie-tooth disease, type 4b3 31.7 SH3TC2 SBF2 PMP22 MTMR2 MPZ GDAP1
18 charcot-marie-tooth disease, dominant intermediate b 31.7 SH3TC2 SBF2 MTMR2 MPZ LITAF GDAP1
19 charcot-marie-tooth disease, axonal, type 2k 31.6 HSPB8 GDAP1
20 charcot-marie-tooth disease, axonal, type 2l 31.5 SPTLC1 NEFL MPZ MFN2 HSPB8 GDAP1
21 charcot-marie-tooth disease, axonal, type 2f 31.5 NEFL MPZ MFN2 LITAF HSPB8 GJB1
22 hereditary motor and sensory neuropathy, type iic 31.5 SH3TC2 NEFL MPZ MFN2 HSPB8 GJB1
23 charcot-marie-tooth disease, axonal, type 2b2 31.4 NEFL MPZ MFN2 MED25 LRSAM1 HSPB8
24 charcot-marie-tooth disease, type 4c 31.4 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
25 charcot-marie-tooth disease, type 4j 31.4 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
26 charcot-marie-tooth disease, type 4b1 31.4 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
27 charcot-marie-tooth disease, axonal, type 2j 31.4 SH3TC2 SBF2 PRX NEFL MTMR2 MPZ
28 charcot-marie-tooth disease, axonal, type 2i 31.4 SH3TC2 PRX NEFL MPZ MED25 HSPB8
29 charcot-marie-tooth disease, type 4h 31.4 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
30 charcot-marie-tooth disease, axonal, type 2d 31.3 SPTLC1 SH3TC2 PMP22 NEFL MPZ MFN2
31 charcot-marie-tooth disease, type 4d 31.3 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
32 charcot-marie-tooth disease, demyelinating, type 4f 31.2 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
33 neuropathy, congenital hypomyelinating, 1, autosomal recessive 31.2 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
34 charcot-marie-tooth disease, demyelinating, type 1b 31.2 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
35 charcot-marie-tooth disease, type 4a 31.2 SH3TC2 SBF2 PRX MTMR2 MPZ MFN2
36 hereditary neuropathies 31.2 PRX PMP22 MTMR2 MPZ MFN2 GJB1
37 foot drop 31.1 PMP22 MPZ
38 charcot-marie-tooth disease, axonal, type 2b 31.1 SPTLC1 SH3TC2 SBF2 NEFL MTMR2 MPZ
39 charcot-marie-tooth disease, type 4b2 30.9 SH3TC2 SBF2 PRX NEFL MTMR2 MPZ
40 axonal neuropathy 30.8 PMP22 NEFL MFN2 GDAP1 GARS1
41 charcot-marie-tooth disease, axonal, type 2e 30.8 SPTLC1 SH3TC2 SBF2 PRX PMP22 NEFL
42 polyneuropathy 30.7 SH3TC2 PRX PMP22 MPZ MFN2 LRSAM1
43 nerve compression syndrome 30.5 SH3TC2 PMP22 MPZ
44 neuropathy, hereditary, with liability to pressure palsies 30.4 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
45 slowed nerve conduction velocity, autosomal dominant 30.4 NEFL MPZ GJB1 ARHGEF10
46 sensory peripheral neuropathy 30.0 SPTLC1 PRX PMP22 MTMR2 MPZ MFN2
47 hypertrophic neuropathy of dejerine-sottas 30.0 SPTLC1 SH3TC2 SBF2 PRX PMP22 NEFL
48 charcot-marie-tooth disease 29.8 SPTLC1 SH3TC2 SBF2 PRX PMP22 NEFL
49 tooth disease 29.8 SPTLC1 SH3TC2 SBF2 PRX PMP22 NEFL
50 neuropathy 29.8 SPTLC1 SH3TC2 SBF2 PRX PMP22 NEFL

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease and Deafness:



Diseases related to Charcot-Marie-Tooth Disease and Deafness

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease and Deafness

Human phenotypes related to Charcot-Marie-Tooth Disease and Deafness:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 Very frequent (99-80%) HP:0000407
2 split hand 58 31 Occasional (29-5%) HP:0001171
3 pes cavus 58 31 Frequent (79-30%) HP:0001761
4 steppage gait 58 31 Occasional (29-5%) HP:0003376
5 hammertoe 58 31 Occasional (29-5%) HP:0001765
6 distal sensory impairment 58 31 Very frequent (99-80%) HP:0002936
7 foot dorsiflexor weakness 58 31 Frequent (79-30%) HP:0009027
8 gait disturbance 58 Frequent (79-30%)
9 global developmental delay 58 Occasional (29-5%)
10 decreased nerve conduction velocity 58 Very frequent (99-80%)
11 abnormal pupil morphology 58 Frequent (79-30%)
12 areflexia 31 HP:0001284
13 cough 58 Occasional (29-5%)
14 gait imbalance 58 Occasional (29-5%)
15 hyporeflexia 31 HP:0001265
16 decreased motor nerve conduction velocity 31 HP:0003431
17 distal lower limb muscle weakness 58 Very frequent (99-80%)
18 limb muscle weakness 31 HP:0003690
19 tinnitus 58 Occasional (29-5%)
20 distal muscle weakness 31 HP:0002460
21 demyelinating peripheral neuropathy 58 Very frequent (99-80%)
22 impaired temperature sensation 58 Frequent (79-30%)
23 difficulty walking 58 Very frequent (99-80%)
24 inability to walk 58 Occasional (29-5%)
25 distal amyotrophy 31 HP:0003693
26 postural instability 58 Frequent (79-30%)
27 talipes calcaneovalgus 31 HP:0001884
28 distal lower limb amyotrophy 58 Frequent (79-30%)
29 hand muscle weakness 58 Frequent (79-30%)
30 talipes calcaneovarus 58 Occasional (29-5%)
31 joint contracture of the hand 58 Occasional (29-5%)
32 hand muscle atrophy 58 Frequent (79-30%)
33 areflexia of lower limbs 58 Frequent (79-30%)
34 equinovarus deformity 58 Occasional (29-5%)
35 abnormality of pain sensation 58 Frequent (79-30%)
36 hyporeflexia of lower limbs 58 Frequent (79-30%)
37 hyporeflexia of upper limbs 58 Frequent (79-30%)
38 peroneal muscle atrophy 58 Frequent (79-30%)
39 impaired tactile sensation 58 Frequent (79-30%)
40 impaired vibration sensation in the lower limbs 58 Frequent (79-30%)
41 slow pupillary light response 58 Frequent (79-30%)
42 calf muscle hypoplasia 58 Frequent (79-30%)
43 acroparesthesia 58 Frequent (79-30%)
44 peroneal muscle weakness 58 Frequent (79-30%)
45 profound sensorineural hearing impairment 58 Occasional (29-5%)
46 anisocoria 58 Occasional (29-5%)
47 tonic pupil 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Head And Neck Ears:
sensorineural hearing loss

Skeletal Feet:
pes cavus
foot deformities
pes calcaneovarus
hammertoes

Skeletal Hands:
claw hand deformities

Clinical features from OMIM®:

118300 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease and Deafness according to GeneCards Suite gene sharing:

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.1 GJB1
2 Decreased viability GR00055-A-2 10.1 GJB1
3 Decreased viability GR00107-A-1 10.1 HSPB8
4 Decreased viability GR00221-A-1 10.1 HSPB8
5 Decreased viability GR00221-A-4 10.1 HSPB8
6 Decreased viability GR00249-S 10.1 GJB1 MPZ SH3TC2
7 Decreased viability GR00301-A 10.1 HSPB8
8 Decreased viability GR00381-A-1 10.1 FGD4 FIG4 LRSAM1 MPZ PRX SH3TC2
9 Decreased viability GR00381-A-3 10.1 MPZ
10 Decreased viability GR00386-A-1 10.1 EGR2 LRSAM1 MED25 MPZ NEFL SPTLC1
11 Decreased viability GR00402-S-2 10.1 FGD4 GARS1 GJB1 LRSAM1 MPZ MTMR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.72 FGD4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.72 GARS1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 FGD4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.72 SPTLC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.72 FGD4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.72 GARS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.72 SPTLC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.72 GARS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.72 GARS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.72 GARS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.72 FGD4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.72 GARS1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.72 GARS1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.72 SPTLC1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.72 GARS1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.72 GARS1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 GARS1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.72 FGD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 GARS1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.72 FGD4
32 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 GARS1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.72 SPTLC1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.72 FGD4 GARS1 SPTLC1

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease and Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1
2 nervous system MP:0003631 9.6 ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1

Drugs & Therapeutics for Charcot-Marie-Tooth Disease and Deafness

Drugs for Charcot-Marie-Tooth Disease and Deafness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo

Search NIH Clinical Center for Charcot-Marie-Tooth Disease and Deafness

Genetic Tests for Charcot-Marie-Tooth Disease and Deafness

Genetic tests related to Charcot-Marie-Tooth Disease and Deafness:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease and Deafness 29 PMP22
2 Charcot-Marie-Tooth Disease, Type I 29

Anatomical Context for Charcot-Marie-Tooth Disease and Deafness

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease and Deafness:

40
Spinal Cord, Skin, Brain

Publications for Charcot-Marie-Tooth Disease and Deafness

Articles related to Charcot-Marie-Tooth Disease and Deafness:

(show top 50) (show all 202)
# Title Authors PMID Year
1
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. 61 57 6
10330345 1999
2
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. 57 6
12578939 2003
3
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 57 6
11835375 2002
4
Charcot-Marie-Tooth disease with sensorineural hearing loss--an autosomal dominant trait. 6 57
7139106 1982
5
The PMP22 gene and its related diseases. 61 6
23224996 2013
6
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. 6
30843326 2019
7
Widening the phenotypical spectrum of EGR2-related CMT: Unusual phenotype for R409W mutation. 6
30481651 2019
8
Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail. 6
31173589 2019
9
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. 6
29687021 2018
10
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. 6
29670817 2018
11
Novel Myelin Protein Zero Mutation in 3 Generations of Vermonters With Demyelinating Charcot-Marie-Tooth Disease. 6
29465609 2018
12
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. 6
28333917 2017
13
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease. 6
28748849 2017
14
Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing. 6
27639257 2017
15
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. 6
28286897 2017
16
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b. 6
27344971 2016
17
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome. 6
27159987 2016
18
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 6
26378787 2016
19
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? 6
27088055 2016
20
Survey of variation in human transcription factors reveals prevalent DNA binding changes. 6
27013732 2016
21
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. 6
26204789 2015
22
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. 6
26454100 2015
23
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 6
26310628 2015
24
Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation. 6
25694466 2015
25
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 6
26392352 2015
26
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22. 6
26102530 2015
27
Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation. 6
26234237 2015
28
A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype. 6
25720167 2014
29
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 6
25429913 2014
30
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 6
25614874 2014
31
Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease. 6
25385046 2014
32
The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation. 6
25720245 2014
33
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. 6
24819634 2014
34
X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients. 6
23649551 2014
35
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 6
25025039 2014
36
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations. 6
24444136 2014
37
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. 6
24053775 2013
38
Two novel MPZ mutations in Chinese CMT patients. 6
24028194 2013
39
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. 6
23965407 2013
40
Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E). 6
23689413 2013
41
Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. 6
22765307 2013
42
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene. 6
23290023 2013
43
Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy. 6
23279346 2012
44
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family. 6
22546699 2012
45
A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease. 6
22222859 2012
46
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. 6
22689911 2012
47
Phenotypic presentation of the Ser63Del MPZ mutation. 6
22734905 2012
48
A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease. 6
22622165 2012
49
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations. 6
22451207 2012
50
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. 6
22190321 2012

Variations for Charcot-Marie-Tooth Disease and Deafness

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease and Deafness:

6 (show top 50) (show all 542)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPZ NC_000001.11:g.(?_161305674)_(161309915_?)dup Duplication Pathogenic 830394 GRCh37: 1:161275464-161279705
GRCh38:
2 MPZ NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer) Duplication Pathogenic 411659 rs1553259651 GRCh37: 1:161276562-161276563
GRCh38: 1:161306772-161306773
3 MPZ NM_000530.8(MPZ):c.159G>A (p.Trp53Ter) SNV Pathogenic 640717 rs1571820100 GRCh37: 1:161277123-161277123
GRCh38: 1:161307333-161307333
4 MPZ NM_000530.8(MPZ):c.333_336del (p.Ile112fs) Deletion Pathogenic 835791 GRCh37: 1:161276610-161276613
GRCh38: 1:161306820-161306823
5 MPZ NM_000530.8(MPZ):c.411C>T (p.Gly137=) SNV Pathogenic 577671 rs1558153994 GRCh37: 1:161276535-161276535
GRCh38: 1:161306745-161306745
6 MPZ NM_000530.8(MPZ):c.20C>G (p.Ser7Ter) SNV Pathogenic 940939 GRCh37: 1:161279676-161279676
GRCh38: 1:161309886-161309886
7 MPZ NM_000530.8(MPZ):c.646dup (p.Thr216fs) Duplication Pathogenic 462798 rs1553259511 GRCh37: 1:161275766-161275767
GRCh38: 1:161305976-161305977
8 MPZ NM_000530.8(MPZ):c.556_559AGGC[3] (p.Ala189fs) Microsatellite Pathogenic 531694 rs1553259566 GRCh37: 1:161276139-161276140
GRCh38: 1:161306349-161306350
9 MPZ NM_000530.8(MPZ):c.491dup (p.Val165fs) Duplication Pathogenic 949390 GRCh37: 1:161276211-161276212
GRCh38: 1:161306421-161306422
10 PMP22 NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) SNV Pathogenic 8440 rs104894626 GRCh37: 17:15162507-15162507
GRCh38: 17:15259190-15259190
11 PMP22 NM_000304.2(PMP22):c.(?_-1)_(*1_?)del Deletion Pathogenic 218288 GRCh37:
GRCh38:
12 PMP22 NM_000304.2(PMP22):c.(?_-1)_(*1_?)dup Duplication Pathogenic 218289 GRCh37:
GRCh38:
13 PMP22 NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs) Indel Pathogenic 220861 rs864622678 GRCh37: 17:15142826-15142827
GRCh38: 17:15239509-15239510
14 overlap with 2 genes NM_000304.3(PMP22):c.-34-?_*1140dup1657 Duplication Pathogenic 237630 GRCh37: 17:15133094-15164078
GRCh38: 17:15229777-15260761
15 MPZ NM_000530.8(MPZ):c.77del (p.Pro26fs) Deletion Pathogenic 574580 rs1558154754 GRCh37: 1:161277205-161277205
GRCh38: 1:161307415-161307415
16 PMP22 NC_000017.10:g.(?_15134214)_(15162530_?)dup Duplication Pathogenic 462775 GRCh37: 17:15134214-15162530
GRCh38:
17 PMP22 NM_000304.4(PMP22):c.83G>A (p.Trp28Ter) SNV Pathogenic 531680 rs1555568475 GRCh37: 17:15162506-15162506
GRCh38: 17:15259189-15259189
18 PMP22 NM_000304.4(PMP22):c.259_260CT[1] (p.Phe88fs) Microsatellite Pathogenic 568922 rs1567704791 GRCh37: 17:15142845-15142846
GRCh38: 17:15239528-15239529
19 overlap with 7 genes NC_000017.10:g.(?_14139889)_(15406546_?)dup Duplication Pathogenic 583564 GRCh37: 17:14139889-15406546
GRCh38:
20 overlap with 5 genes NC_000017.10:g.(?_15162411)_(15406546_?)dup Duplication Pathogenic 583977 GRCh37: 17:15162411-15406546
GRCh38:
21 PMP22 and overlap with 1 gene(s) NC_000017.10:g.(?_15134228)_(15164050_?)dup Duplication Pathogenic 652966 GRCh37: 17:15134228-15164050
GRCh38: 17:15230911-15260733
22 PMP22 and overlap with 1 gene(s) NC_000017.10:g.(?_15142778)_(15164054_?)dup Duplication Pathogenic 655765 GRCh37: 17:15142778-15164054
GRCh38: 17:15239461-15260737
23 PMP22 and overlap with 1 gene(s) NC_000017.10:g.(?_15133096)_(15165152_?)dup Duplication Pathogenic 660675 GRCh37: 17:15133096-15165152
GRCh38: 17:15229779-15261835
24 PMP22 NC_000017.11:g.(?_15229767)_(15239621_?)del Deletion Pathogenic 831399 GRCh37: 17:15133084-15142938
GRCh38:
25 PMP22 NC_000017.11:g.(?_15259084)_(15260737_?)del Deletion Pathogenic 831609 GRCh37: 17:15162401-15164054
GRCh38:
26 PMP22 NM_000304.4(PMP22):c.351C>A (p.Tyr117Ter) SNV Pathogenic 846662 GRCh37: 17:15134366-15134366
GRCh38: 17:15231049-15231049
27 PMP22 NM_000304.4(PMP22):c.335del (p.Ser112fs) Deletion Pathogenic 938786 GRCh37: 17:15134382-15134382
GRCh38: 17:15231065-15231065
28 PMP22 NM_000304.4(PMP22):c.52_56delinsGCGATCGTG (p.Leu18fs) Indel Pathogenic 969243 GRCh37: 17:15163989-15163993
GRCh38: 17:15260672-15260676
29 EGR2 NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) SNV Pathogenic 16750 rs104894159 GRCh37: 10:64573173-64573173
GRCh38: 10:62813413-62813413
30 EGR2 NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys) SNV Pathogenic 16753 rs121434563 GRCh37: 10:64573164-64573164
GRCh38: 10:62813404-62813404
31 PMP22 NM_000304.4(PMP22):c.449G>T (p.Gly150Val) SNV Pathogenic 433198 rs879253954 GRCh37: 17:15134268-15134268
GRCh38: 17:15230951-15230951
32 PMP22 NM_000304.4(PMP22):c.36C>A (p.His12Gln) SNV Pathogenic 8434 rs104894622 GRCh37: 17:15164009-15164009
GRCh38: 17:15260692-15260692
33 overlap with 2 genes NM_000304.3(PMP22):c.-34-?_*1140del Deletion Pathogenic 237629 GRCh37: 17:15133094-15164078
GRCh38: 17:15229777-15260761
34 PMP22 NC_000017.11:g.(?_15239451)_(15239631_?)del Deletion Pathogenic 531713 GRCh37: 17:15142768-15142948
GRCh38: 17:15239451-15239631
35 PMP22 and overlap with 1 gene(s) NC_000017.11:g.(?_15239461)_(15260737_?)del Deletion Pathogenic 656830 GRCh37: 17:15142778-15164054
GRCh38: 17:15239461-15260737
36 PMP22 NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) SNV Pathogenic 8436 rs104894623 GRCh37: 17:15142908-15142908
GRCh38: 17:15239591-15239591
37 PMP22 NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) SNV Pathogenic 8436 rs104894623 GRCh37: 17:15142908-15142908
GRCh38: 17:15239591-15239591
38 MPZ NM_000530.8(MPZ):c.116A>C (p.His39Pro) SNV Pathogenic 217232 rs371856018 GRCh37: 1:161277166-161277166
GRCh38: 1:161307376-161307376
39 EGR2 NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) SNV Pathogenic 219844 rs864622273 GRCh37: 10:64573172-64573172
GRCh38: 10:62813412-62813412
40 PMP22 NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) SNV Pathogenic 8433 rs104894621 GRCh37: 17:15142892-15142892
GRCh38: 17:15239575-15239575
41 MPZ NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) SNV Pathogenic 14169 rs121913585 GRCh37: 1:161277094-161277094
GRCh38: 1:161307304-161307304
42 PMP22 NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) SNV Pathogenic 245805 rs879253954 GRCh37: 17:15134268-15134268
GRCh38: 17:15230951-15230951
43 MPZ NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) Duplication Pathogenic 444185 rs1553259697 GRCh37: 1:161276675-161276676
GRCh38: 1:161306885-161306886
44 MPZ NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) SNV Pathogenic 14175 rs121913590 GRCh37: 1:161276654-161276654
GRCh38: 1:161306864-161306864
45 PMP22 NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) Deletion Pathogenic 8441 rs786205111 GRCh37: 17:15134362-15134373
GRCh38: 17:15231045-15231056
46 MPZ NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) SNV Pathogenic 188168 rs786204119 GRCh37: 1:161277100-161277100
GRCh38: 1:161307310-161307310
47 MPZ NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) SNV Pathogenic 188325 rs786204215 GRCh37: 1:161276632-161276632
GRCh38: 1:161306842-161306842
48 MPZ NM_000530.8(MPZ):c.293G>A (p.Arg98His) SNV Pathogenic 14176 rs121913589 GRCh37: 1:161276653-161276653
GRCh38: 1:161306863-161306863
49 MPZ NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) SNV Pathogenic 221065 rs864622732 GRCh37: 1:161277176-161277176
GRCh38: 1:161307386-161307386
50 MPZ NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) SNV Pathogenic 41022 rs281865128 GRCh37: 1:161276216-161276216
GRCh38: 1:161306426-161306426

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease and Deafness:

72
# Symbol AA change Variation ID SNP ID
1 PMP22 p.Ala67Pro VAR_009661 rs104894623
2 PMP22 p.Thr23Arg VAR_029961 rs906563423
3 PMP22 p.Trp28Arg VAR_029963 rs104894626

Expression for Charcot-Marie-Tooth Disease and Deafness

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease and Deafness.

Pathways for Charcot-Marie-Tooth Disease and Deafness

Pathways related to Charcot-Marie-Tooth Disease and Deafness 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 and Deafness

Cellular components related to Charcot-Marie-Tooth Disease and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.92 SBF2 MTMR2 LITAF FIG4

Biological processes related to Charcot-Marie-Tooth Disease and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination in peripheral nervous system GO:0022011 9.4 SH3TC2 ARHGEF10
2 mitochondrial fusion GO:0008053 9.37 MFN2 GDAP1
3 negative regulation of endocytosis GO:0045806 9.32 MTMR2 LRSAM1
4 negative regulation of myelination GO:0031642 9.26 MTMR2 FIG4
5 peripheral nervous system myelin maintenance GO:0032287 9.16 SH3TC2 PRX
6 myelination GO:0042552 9.13 SBF2 MPZ EGR2
7 myelin assembly GO:0032288 8.8 PMP22 MTMR2 FIG4

Molecular functions related to Charcot-Marie-Tooth Disease and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 8.62 MTMR2 FIG4

Sources for Charcot-Marie-Tooth Disease and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....