CMT1E
MCID: CHR629
MIFTS: 54

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 56 12 52 29 6
Charcot-Marie-Tooth Disease Type 1e 12 52 58 15
Charcot-Marie-Tooth Disease Type 1 12 52 58 15
Cmt1e 56 12 58 73
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 56 52 71
Hereditary Motor and Sensory Neuropathy Type 1 12 52 58
Charcot-Marie-Tooth Disease, Type I 29 6 39
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 56 52
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 52 58
Charcot-Marie-Tooth Disease Demyelinating Type 1e 12 73
Charcot-Marie-Tooth Neuropathy Type 1 52 58
Charcot-Marie-Tooth Disease, Type 1e 56 13
Cmt1 52 58
Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness 12
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 73
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e; Cmt1e 56
Hereditary Motor and Sensory Neuropathy Type I 71
Charcot-Marie-Tooth Disease-Deafness Syndrome 58
Hereditary Motor and Sensory Neuropathy 1 52
Charcot-Marie-Tooth Neuropathy Type 1e 73
Charcot-Marie-Tooth Disease-Deafness 12
Charcot-Marie-Tooth Disease, Type Ie 39
Charcot Marie Tooth Disease Type 1e 52
Charcot-Marie-Tooth Disease 1e 73
Charcot-Marie-Tooth Type 1 52
Cmt 1e 52
Hmsn1 52

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:

56
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 56 118300
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
MESH via Orphanet 44 C537986 C538078
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C0751036 C1861669 C2931686 more
UMLS 71 C0751036 C3495591

Summaries for Charcot-Marie-Tooth Disease and Deafness

NIH Rare Diseases : 52 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 charcot-marie-tooth disease, x-linked dominant, 1 and charcot-marie-tooth disease, demyelinating, type 1f. 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 drugs Pharmaceutical Solutions and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skin, and related phenotypes are sensorineural hearing impairment and areflexia

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 : 73 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 140)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked dominant, 1 33.6 SH3TC2 PRX PMP22 PES1 MTMR2 MPZ
2 charcot-marie-tooth disease, demyelinating, type 1f 33.5 SH3TC2 SBF2 NEFL MTMR2 MPZ LRSAM1
3 roussy-levy hereditary areflexic dystasia 33.3 PMP22 MPZ
4 charcot-marie-tooth disease, demyelinating, type 1d 33.1 SULT2B1 PRX PMP22 MTMR2 MPZ LITAF
5 charcot-marie-tooth disease, demyelinating, type 1a 33.1 TSPAN4 SH3TC2 SBF2 PRX PMP22 PES1
6 charcot-marie-tooth disease, demyelinating, type 1c 32.9 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
7 charcot-marie-tooth disease, dominant intermediate a 32.8 PRX MPZ GJB1 GDAP1
8 charcot-marie-tooth disease, axonal, type 2q 32.4 PES1 MPZ GJB1 EGR2
9 charcot-marie-tooth disease, type 4b3 32.4 SH3TC2 SBF2 MTMR2 GDAP1
10 charcot-marie-tooth disease, axonal, type 2p 32.4 LRSAM1 LITAF GDAP1
11 charcot-marie-tooth disease, type 4k 32.4 SH3TC2 LITAF
12 charcot-marie-tooth disease, axonal, type 2u 32.4 SPTLC2 SH3TC2 GARS1
13 charcot-marie-tooth disease, axonal, type 2b1 32.4 MFN2 LRSAM1 GDAP1
14 charcot-marie-tooth disease, axonal, type 2n 32.4 MFN2 KIF1B GDAP1 GARS1
15 charcot-marie-tooth disease, axonal, type 2cc 32.3 PES1 NEFL MPZ MFN2 GJB1
16 charcot-marie-tooth disease, axonal, type 2a1 32.3 MPZ MFN2 LRSAM1 KIF1B GDAP1
17 charcot-marie-tooth disease, type 4h 32.3 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
18 charcot-marie-tooth disease, type 4j 32.3 SH3TC2 SBF2 PRX MTMR2 LITAF GDAP1
19 charcot-marie-tooth disease, dominant intermediate b 32.3 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
20 charcot-marie-tooth disease, axonal, type 2r 32.2 LRSAM1 GDAP1
21 charcot-marie-tooth disease, axonal, type 2l 32.2 NEFL MPZ MFN2 KIF1B GDAP1 GARS1
22 charcot-marie-tooth disease, type 4b1 32.2 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
23 charcot-marie-tooth disease, axonal, type 2b2 32.2 NEFL MPZ MFN2 LRSAM1 KIF1B GDAP1
24 charcot-marie-tooth disease, axonal, type 2d 32.2 NEFL MPZ MFN2 KIF1B GJB1 GDAP1
25 charcot-marie-tooth disease, type 4d 32.2 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
26 charcot-marie-tooth disease, type 4b2 32.2 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
27 charcot-marie-tooth disease, demyelinating, type 4f 32.1 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
28 charcot-marie-tooth disease, axonal, type 2f 32.1 NEFL MTMR2 MPZ MFN2 KIF1B GJB1
29 hereditary motor and sensory neuropathy, type iic 32.0 SH3TC2 NEFL MPZ MFN2 LRSAM1 KIF1B
30 charcot-marie-tooth disease, type 4a 32.0 SH3TC2 SBF2 PRX MTMR2 MPZ MFN2
31 charcot-marie-tooth disease, type 4c 32.0 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
32 charcot-marie-tooth disease, axonal, type 2i 32.0 SH3TC2 PMP22 PES1 MPZ MFN2 LITAF
33 charcot-marie-tooth disease, axonal, type 2j 31.9 SH3TC2 SBF2 PES1 NEFL MTMR2 MPZ
34 charcot-marie-tooth disease, demyelinating, type 1b 31.9 SULT2B1 SH3TC2 SBF2 PRX PMP22 PES1
35 charcot-marie-tooth disease, axonal, type 2b 31.8 SH3TC2 SBF2 NEFL MTMR2 MPZ MFN2
36 charcot-marie-tooth disease, axonal, type 2t 31.7 LRSAM1 GDAP1
37 charcot-marie-tooth disease, axonal, type 2e 31.6 SULT2B1 SH3TC2 SBF2 PRX PMP22 PES1
38 hereditary neuropathies 31.6 PRX PMP22 MTMR2 MPZ MFN2 GJB1
39 foot drop 31.5 PMP22 MPZ
40 polyneuropathy 31.3 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
41 axonal neuropathy 31.2 PMP22 NEFL MFN2 GDAP1 GARS1
42 tooth disease 30.7 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
43 neuropathy 30.7 SPTLC2 SH3TC2 SBF2 PRX PMP22 NEFL
44 neuropathy, hereditary, with liability to pressure palsies 30.5 TSPAN4 SPTLC2 SH3TC2 SBF2 PRX PMP22
45 sensory peripheral neuropathy 30.4 SH3TC2 SBF2 PRX PMP22 PES1 MTMR2
46 hypertrophic neuropathy of dejerine-sottas 30.4 TSPAN4 SULT2B1 SH3TC2 SBF2 PRX PMP22
47 peripheral nervous system disease 30.3 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
48 neuromuscular disease 30.3 SH3TC2 SBF2 PRX PMP22 PES1 NEFL
49 charcot-marie-tooth disease 30.2 TSPAN4 SULT2B1 SPTLC2 SH3TC2 SBF2 PRX
50 charcot-marie-tooth disease, demyelinating, type 1g 12.2

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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 decreased motor nerve conduction velocity 31 HP:0003431
5 hyporeflexia 31 HP:0001265
6 split hand 31 HP:0001171
7 distal amyotrophy 31 HP:0003693
8 foot dorsiflexor weakness 31 HP:0009027
9 limb muscle weakness 31 HP:0003690
10 hammertoe 31 HP:0001765
11 distal muscle weakness 31 HP:0002460
12 steppage gait 31 HP:0003376
13 distal sensory impairment 31 HP:0002936
14 talipes calcaneovalgus 31 HP:0001884

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease and Deafness 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 LRSAM1 MPZ PES1 PRX SH3TC2
3 Decreased viability GR00381-A-3 10.09 MPZ
4 Decreased viability GR00402-S-2 10.09 ATAD2 EGR2 GARS1 GDAP1 GJB1 KIF1B
5 no effect GR00402-S-1 9.62 ATAD2 EGR2 GARS1 GDAP1 GJB1 KIF1B

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 EGR2 GARS1 GDAP1 GJB1 KIF1B LRSAM1
2 homeostasis/metabolism MP:0005376 9.73 EGR2 GDAP1 GJB1 KIF1B LITAF MFN2
3 nervous system MP:0003631 9.5 EGR2 GARS1 GDAP1 GJB1 KIF1B LITAF

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
2 4-des-dimethylaminotetracycline Phase 2
3
protease inhibitors
4 HIV Protease Inhibitors
5 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Active, not recruiting NCT03124459 Phase 2 ACE-083;Placebo
3 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Enrolling by invitation NCT03943290 Phase 2 ACE-083
4 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075

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
Brain, Spinal Cord, Skin, Testes

Publications for Charcot-Marie-Tooth Disease and Deafness

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

(show all 15)
# Title Authors PMID Year
1
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. 61 56 6
10330345 1999
2
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. 56 6
12578939 2003
3
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 56 6
11835375 2002
4
Charcot-Marie-Tooth disease with sensorineural hearing loss--an autosomal dominant trait. 56 6
7139106 1982
5
Charcot-Marie-Tooth Neuropathy Type 1 61 6
20301384 1998
6
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
7
Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. 6
7829101 1994
8
Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant. 56
8355122 1993
9
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. 61
28382305 2017
10
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease. 61
27863451 2017
11
PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1. 61
25522693 2015
12
The PMP22 gene and its related diseases. 61
23224996 2013
13
Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse. 61
23313019 2013
14
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 61
23279344 2012
15
Hereditary hypertrophic neuropathy combining features of tic douloureux, Charcot-Marie-Tooth disease, and deafness. 61
196788 1977

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 409) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPZ NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)SNV Pathogenic 208148 rs281865128 1:161276216-161276216 1:161306426-161306426
2 MPZ NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)SNV Pathogenic 208146 rs797044845 1:161277101-161277101 1:161307311-161307311
3 MPZ NM_000530.8(MPZ):c.116A>C (p.His39Pro)SNV Pathogenic 217232 rs371856018 1:161277166-161277166 1:161307376-161307376
4 MPZ NM_000530.8(MPZ):c.90C>G (p.Ile30Met)SNV Pathogenic 217235 rs770546306 1:161277192-161277192 1:161307402-161307402
5 PMP22 NM_000304.4(PMP22):c.434del (p.Leu145fs)deletion Pathogenic 217238 rs863225029 17:15134283-15134283 17:15230966-15230966
6 PMP22 NM_000304.2(PMP22):c.(?_-1)_(*1_?)deldeletion Pathogenic 218288
7 PMP22 NM_000304.2(PMP22):c.(?_-1)_(*1_?)dupduplication Pathogenic 218289
8 MPZ NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)SNV Pathogenic 221065 rs864622732 1:161277176-161277176 1:161307386-161307386
9 PMP22 NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs)indel Pathogenic 220861 rs864622678 17:15142826-15142827 17:15239509-15239510
10 PMP22 NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)SNV Pathogenic 8428 rs104894617 17:15163998-15163998 17:15260681-15260681
11 PMP22 NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)SNV Pathogenic 8433 rs104894621 17:15142892-15142892 17:15239575-15239575
12 PMP22 NM_000304.4(PMP22):c.36C>A (p.His12Gln)SNV Pathogenic 8434 rs104894622 17:15164009-15164009 17:15260692-15260692
13 PMP22 NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)SNV Pathogenic 8440 rs104894626 17:15162507-15162507 17:15259190-15259190
14 MPZ NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)SNV Pathogenic 14166 rs121913583 1:161276660-161276660 1:161306870-161306870
15 MPZ NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)SNV Pathogenic 14167 rs121913584 1:161276676-161276676 1:161306886-161306886
16 MPZ NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)SNV Pathogenic 14169 rs121913585 1:161277094-161277094 1:161307304-161307304
17 MPZ NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)SNV Pathogenic 14174 rs121913589 1:161276653-161276653 1:161306863-161306863
18 MPZ NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)SNV Pathogenic 14175 rs121913590 1:161276654-161276654 1:161306864-161306864
19 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met)SNV Pathogenic 14181 rs121913595 1:161276575-161276575 1:161306785-161306785
20 MPZ NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)SNV Pathogenic 14185 rs121913598 1:161277151-161277151 1:161307361-161307361
21 MPZ NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)SNV Pathogenic 188325 rs786204215 1:161276632-161276632 1:161306842-161306842
22 MPZ NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)SNV Pathogenic 14188 rs121913601 1:161277049-161277049 1:161307259-161307259
23 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)SNV Pathogenic 14191 rs121913603 1:161276512-161276512 1:161306722-161306722
24 EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)SNV Pathogenic 16752 rs104894161 10:64573323-64573323 10:62813563-62813563
25 EGR2 NM_000399.5(EGR2):c.1142G>A (p.Arg381His)SNV Pathogenic 41008 rs281865137 10:64573256-64573256 10:62813496-62813496
26 MPZ NM_000530.8(MPZ):c.244T>C (p.Tyr82His)SNV Pathogenic 41017 rs281865124 1:161276702-161276702 1:161306912-161306912
27 MPZ NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)SNV Pathogenic 41024 rs267607247 1:161275743-161275743 1:161305953-161305953
28 PMP22 NM_000304.3(PMP22):c.-34-?_*1140deldeletion Pathogenic 237629 17:15133094-15164078 17:15229777-15260761
29 PMP22 NM_000304.3(PMP22):c.-34-?_*1140dup1657duplication Pathogenic 237630 17:15133094-15164078 17:15229777-15260761
30 MPZ NM_000530.8(MPZ):c.188_190del (p.Ser63del)deletion Pathogenic 246121 rs879254109 1:161277092-161277094 1:161307302-161307304
31 MPZ NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)SNV Pathogenic 411669 rs121913601 1:161277049-161277049 1:161307259-161307259
32 MPZ NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer)duplication Pathogenic 411659 rs1553259651 1:161276562-161276563 1:161306772-161306773
33 PMP22 NM_000304.4(PMP22):c.449G>T (p.Gly150Val)SNV Pathogenic 433198 rs879253954 17:15134268-15134268 17:15230951-15230951
34 MPZ NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)SNV Pathogenic 462792 rs1553259703 1:161276690-161276690 1:161306900-161306900
35 MPZ NM_000530.8(MPZ):c.646dup (p.Thr216fs)duplication Pathogenic 462798 rs1553259511 1:161275766-161275767 1:161305976-161305977
36 MPZ NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)SNV Pathogenic 462790 rs121913596 1:161277179-161277179 1:161307389-161307389
37 PMP22 NC_000017.10:g.(?_15134214)_(15162530_?)dupduplication Pathogenic 462775 17:15134214-15162530
38 MPZ NM_000530.8(MPZ):c.556_559AGGC[3] (p.Ala189fs)short repeat Pathogenic 531694 rs1553259566 1:161276139-161276140 1:161306349-161306350
39 MPZ NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)deletion Pathogenic 531677 rs1553259643 1:161276509-161276512 1:161306719-161306722
40 MPZ NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)SNV Pathogenic 531678 rs1553259683 1:161276648-161276648 1:161306858-161306858
41 MPZ NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)SNV Pathogenic 531693 rs1553259790 1:161277130-161277130 1:161307340-161307340
42 SH3TC2 NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs)deletion Pathogenic 543408 rs1222150652 5:148388457-148388467 5:149008894-149008904
43 PMP22 NC_000017.10:g.(?_15142768)_(15142948_?)deldeletion Pathogenic 531713 17:15142768-15142948 17:15239451-15239631
44 PMP22 NM_000304.4(PMP22):c.83G>A (p.Trp28Ter)SNV Pathogenic 531680 rs1555568475 17:15162506-15162506 17:15259189-15259189
45 MPZ NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)SNV Pathogenic 549681 rs1553259707 1:161276701-161276701 1:161306911-161306911
46 MPZ NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)SNV Pathogenic 570159 rs1017715903 1:161276644-161276644 1:161306854-161306854
47 MPZ NM_000530.8(MPZ):c.77del (p.Pro26fs)deletion Pathogenic 574580 rs1558154754 1:161277205-161277205 1:161307415-161307415
48 MPZ NM_000530.8(MPZ):c.411C>T (p.Gly137=)SNV Pathogenic 577671 rs1558153994 1:161276535-161276535 1:161306745-161306745
49 PMP22 NC_000017.10:g.(?_15162411)_(15406546_?)dupduplication Pathogenic 583977 17:15162411-15406546
50 PMP22 NM_000304.4(PMP22):c.259_260CT[1] (p.Phe88fs)short repeat Pathogenic 568922 rs1567704791 17:15142845-15142846 17:15239528-15239529

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

73
# 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 axon GO:0030424 9.02 SBF2 NEFL MTMR2 KIF1B GARS1
2 vacuolar membrane GO:0005774 8.96 SBF2 MTMR2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 9.26 MFN2 GDAP1
2 negative regulation of endocytosis GO:0045806 9.16 MTMR2 LRSAM1
3 myelin assembly GO:0032288 8.96 PMP22 MTMR2
4 myelination GO:0042552 8.92 SBF2 PMP22 MPZ EGR2

Sources for Charcot-Marie-Tooth Disease and Deafness

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
36 KEGG
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48 NCI
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53 NINDS
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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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