MCID: CHR687
MIFTS: 39

Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

MalaCards integrated aliases for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

Name: Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 59
Charcot-Marie-Tooth Hereditary Neuropathy 59
Cmt/hmsn 59

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease/hereditary motor and sensory neuropathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant,X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 D002607
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C0007959
Orphanet 59 ORPHA166

Summaries for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

MalaCards based summary : Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy, also known as charcot-marie-tooth hereditary neuropathy, is related to sensory peripheral neuropathy and charcot-marie-tooth disease, demyelinating, type 1c. An important gene associated with Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy is PMP22 (Peripheral Myelin Protein 22). The drugs HIV Protease Inhibitors and protease inhibitors have been mentioned in the context of this disorder. Related phenotypes are ataxia and gait disturbance

Related Diseases for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 31.5 PMP22 GJB1 GDAP1 FGD4 EGR2
2 charcot-marie-tooth disease, demyelinating, type 1c 31.4 PMP22 KIF1B GJB1 EGR2
3 neuropathy 31.3 PMP22 GJB1 GDAP1 ELP1 EGR2 DNMT1
4 charcot-marie-tooth disease, demyelinating, type 1b 31.2 PMP22 KIF1B GJB1 EGR2
5 charcot-marie-tooth disease, demyelinating, type 1a 31.2 PMP22 KIF1B GJB1 GDAP1 EGR2
6 tooth disease 29.8 PMP22 LMNA KIF1B INF2 IGHMBP2 HSPB8
7 charcot-marie-tooth disease 29.6 PMP22 LMNA KIF1B INF2 IGHMBP2 HSPB8
8 charcot-marie-tooth hereditary neuropathy 12.8
9 cauda equina syndrome 10.7 PMP22 EGR2
10 charcot-marie-tooth disease, demyelinating, type 1f 10.7 PMP22 GJB1
11 charcot-marie-tooth disease, axonal, type 2h 10.6 GDAP1 DNAJB2
12 hereditary sensory neuropathy 10.6 ELP1 DNMT1 ATL1
13 hereditary neuropathies 10.6
14 neuropathy, hereditary motor and sensory, russe type 10.6 EGR2 CTDP1
15 amyotrophic neuralgia 10.6 PMP22 KIF1B GJB1
16 charcot-marie-tooth disease, axonal, type 2d 10.6 PMP22 KIF1B GJB1
17 charcot-marie-tooth disease, type 4d 10.6 GJB1 GDAP1 CTDP1
18 motor peripheral neuropathy 10.6 PMP22 KIF1B GJB1
19 charcot-marie-tooth disease, x-linked recessive, 3 10.5 HSPB8 GJB1
20 charcot-marie-tooth disease, axonal, type 2b1 10.5 LMNA DNAJB2
21 charcot-marie-tooth disease, x-linked dominant, 1 10.5 PMP22 GJB1
22 charcot-marie-tooth disease, axonal, type 2f 10.5 KIF1B HSPB1 GJB1
23 axonal neuropathy 10.5 PMP22 LMNA GDAP1
24 hereditary motor and sensory neuropathy, type iic 10.5 KIF1B GJB1 GDAP1
25 myofibrillar myopathy 10.5 LMNA HSPB8 BAG3
26 charcot-marie-tooth disease, axonal, type 2l 10.5 KIF1B HSPB8 HSPB1
27 neuromuscular disease 10.5 PMP22 LMNA HSPB8
28 charcot-marie-tooth disease, type 4a 10.5
29 branchiootic syndrome 1 10.5
30 auditory neuropathy spectrum disorder 10.5
31 charcot-marie-tooth disease, axonal, type 2b 10.5 PMP22 KIF1B GJB1 EGR2
32 charcot-marie-tooth disease, demyelinating, type 1d 10.5 PMP22 KIF1B GJB1 EGR2
33 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.4 GJB1 EGR2
34 brachial plexus neuropathy 10.4 PMP22 KIF1B
35 hereditary sensory and autonomic neuropathy type 1 10.4 DNMT1 ATL1
36 charcot-marie-tooth disease, axonal, type 2k 10.4 KIF1B HSPB8 GDAP1 DNAJB2
37 3-methylglutaconic aciduria, type iii 10.3
38 nervous system disease 10.3
39 neuropathy, hereditary, with liability to pressure palsies 10.3 PMP22 KIF1B GJB1 GDAP1 EGR2
40 charcot-marie-tooth disease and deafness 10.3 PMP22 KIF1B GJB1 GDAP1 EGR2
41 hypertrophic neuropathy of dejerine-sottas 10.2 PMP22 KIF1B GJB1 GDAP1 FGD4 EGR2
42 peripheral nervous system disease 10.2 PMP22 KIF1B GJB1 GDAP1 ELP1 EGR2
43 amyotrophic lateral sclerosis 1 9.8 HSPB8 HSPB1 FIG4 DNAJB2
44 charcot-marie-tooth disease, axonal, type 2e 9.8 PMP22 LMNA KIF1B IGHMBP2 GJB1 GDAP1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:



Diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Human phenotypes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
4 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
5 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
6 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
7 decreased nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000762
8 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
9 paralysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003470
10 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
11 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
12 abnormality of the pharynx 59 32 hallmark (90%) Very frequent (99-80%) HP:0000600
13 distal amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003693

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 DNMT1 IGHMBP2 KIF1B LMNA PMP22

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ATL1 BAG3 DNMT1 EGR2 ELP1 FGD4
2 cellular MP:0005384 10.11 BAG3 DNMT1 EGR2 ELP1 GDAP1 GJB1
3 cardiovascular system MP:0005385 10.1 BAG3 EGR2 ELP1 FIG4 HSPB1 HSPB8
4 growth/size/body region MP:0005378 10.1 BAG3 DNMT1 EGR2 ELP1 FIG4 GJB1
5 homeostasis/metabolism MP:0005376 10 BAG3 EGR2 ELP1 GDAP1 GJB1 HSPB1
6 limbs/digits/tail MP:0005371 9.76 ATL1 EGR2 ELP1 FIG4 GDAP1 KIF1B
7 muscle MP:0005369 9.56 BAG3 ELP1 FIG4 HSPB8 IGHMBP2 KIF1B
8 nervous system MP:0003631 9.36 DNMT1 EGR2 ELP1 FGD4 FIG4 GDAP1

Drugs & Therapeutics for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Drugs for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 HIV Protease Inhibitors
2
protease inhibitors
3 4-des-dimethylaminotetracycline
4 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
2 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/hereditary Motor and Sensory Neuropathy

Genetic Tests for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Anatomical Context for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Publications for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Articles related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

# Title Authors PMID Year
1
Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. 38
24654889 2014
2
Rehabilitation interventions for foot drop in neuromuscular disease. 38
17443532 2007
3
[Hereditary motor and sensory neuropathy of Charcot-Marie-Tooth disease]. 38
7735430 1995
4
Degeneration of anterior horn cell in neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type II): a Golgi study. 38
7687811 1993
5
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. 38
1683643 1991
6
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). 38
2239969 1990
7
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. 38
3467805 1987
8
H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease. 38
6295678 1982
9
Distal and scapuloperoneal distributions of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. 38
6157795 1980

Variations for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

6 (show top 50) (show all 1141)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SPTLC1 NM_006415.4(SPTLC1): c.992C> A (p.Ser331Tyr) single nucleotide variant Pathogenic rs267607087 9:94809543-94809543 9:92047261-92047261
2 SH3TC2 NM_024577.3(SH3TC2): c.2642A> G (p.Asn881Ser) single nucleotide variant Pathogenic rs80338930 5:148406653-148406653 5:149027090-149027090
3 MPZ NM_000530.8(MPZ): c.233C> G (p.Ser78Trp) single nucleotide variant Pathogenic rs121913601 1:161277049-161277049 1:161307259-161307259
4 GARS1 NM_002047.4(GARS1): c.1415A> G (p.His472Arg) single nucleotide variant Pathogenic rs1060502838 7:30661064-30661064 7:30621448-30621448
5 GDAP1 NM_018972.4(GDAP1): c.579del (p.Lys193fs) deletion Pathogenic rs1060500979 8:75274213-75274213 8:74361978-74361978
6 GJB1 NM_000166.6(GJB1): c.65G> A (p.Arg22Gln) single nucleotide variant Pathogenic rs1060501002 X:70443622-70443622 X:71223772-71223772
7 GJB1 NM_000166.6(GJB1): c.101T> C (p.Met34Thr) single nucleotide variant Pathogenic rs1060500998 X:70443658-70443658 X:71223808-71223808
8 FIG4 NM_014845.5(FIG4): c.1373dup (p.Leu458fs) duplication Pathogenic rs770043095 6:110083395-110083395 6:109762192-109762192
9 FGD4 NM_139241.3(FGD4): c.1877_1881AAAAG[2] (p.Lys630fs) short repeat Pathogenic rs751035912 12:32786608-32786612 12:32633674-32633678
10 SH3TC2 NM_024577.3(SH3TC2): c.3676-8G> A single nucleotide variant Pathogenic rs772823083 5:148384473-148384473 5:149004910-149004910
11 SLC12A6 NM_005135.2(SLC12A6): c.2283+1del deletion Pathogenic rs515726215 15:34532861-34532861 15:34240660-34240660
12 MFN2 NM_014874.3(MFN2): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs119103262 1:12057372-12057372 1:11997315-11997315
13 SH3TC2 NM_024577.3(SH3TC2): c.957del (p.Phe320fs) deletion Pathogenic rs1554122541 5:148417902-148417902 5:149038339-149038339
14 HSPB1 NM_001540.5(HSPB1): c.539C> T (p.Thr180Ile) single nucleotide variant Pathogenic rs1422978230 7:75933411-75933411 7:76304094-76304094
15 GJB1 NM_000166.6(GJB1): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs1555937020 X:70443621-70443621 X:71223771-71223771
16 GJB1 NM_000166.6(GJB1): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs1555937122 X:70443823-70443823 X:71223973-71223973
17 GJB1 NM_000166.6(GJB1): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs1555937233 X:70444105-70444105 X:71224255-71224255
18 GJB1 NM_000166.6(GJB1): c.622G> A (p.Glu208Lys) single nucleotide variant Pathogenic rs1555937270 X:70444179-70444179 X:71224329-71224329
19 GDAP1 NM_018972.4(GDAP1): c.929G> A (p.Arg310Gln) single nucleotide variant Pathogenic rs1323153568 8:75276454-75276454 8:74364219-74364219
20 MPZ NM_000530.8(MPZ): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs1553259703 1:161276690-161276690 1:161306900-161306900
21 MPZ NM_000530.8(MPZ): c.103G> A (p.Asp35Asn) single nucleotide variant Pathogenic rs121913596 1:161277179-161277179 1:161307389-161307389
22 GARS1 NM_002047.4(GARS1): c.1000A> T (p.Ile334Phe) single nucleotide variant Pathogenic rs1554338260 7:30651830-30651830 7:30612214-30612214
23 GJB1 NM_000166.6(GJB1): c.304_306del (p.Glu102del) deletion Pathogenic rs1555937135 X:70443861-70443863 X:71224011-71224013
24 GJB1 NM_000166.6(GJB1): c.515C> T (p.Pro172Leu) single nucleotide variant Pathogenic rs1555937218 X:70444072-70444072 X:71224222-71224222
25 GJB1 NM_000166.6(GJB1): c.77C> G (p.Ser26Trp) single nucleotide variant Pathogenic rs587777876 X:70443634-70443634 X:71223784-71223784
26 GJB1 NM_000166.6(GJB1): c.392_393TG[1] (p.Trp132fs) short repeat Pathogenic rs1555937168 X:70443951-70443952 X:71224101-71224102
27 MPZ NM_000530.8(MPZ): c.434_437del (p.Tyr145fs) deletion Pathogenic rs1553259643 1:161276509-161276512 1:161306719-161306722
28 MPZ NM_000530.8(MPZ): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs1553259683 1:161276648-161276648 1:161306858-161306858
29 NTRK1 NM_002529.3(NTRK1): c.638T> C (p.Leu213Pro) single nucleotide variant Pathogenic rs747711259 1:156838360-156838360 1:156868568-156868568
30 MPZ NM_000530.8(MPZ): c.152C> T (p.Ser51Phe) single nucleotide variant Pathogenic rs1553259790 1:161277130-161277130 1:161307340-161307340
31 HSPB1 NM_001540.5(HSPB1): c.116C> T (p.Pro39Leu) single nucleotide variant Pathogenic rs557327165 7:75932145-75932145 7:76302828-76302828
32 HSPB1 NM_001540.5(HSPB1): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs28939680 7:75933158-75933158 7:76303841-76303841
33 GDAP1 NM_018972.4(GDAP1): c.571C> T (p.Arg191Ter) single nucleotide variant Pathogenic rs1554547986 8:75274205-75274205 8:74361970-74361970
34 MPZ NM_000530.8(MPZ): c.245A> G (p.Tyr82Cys) single nucleotide variant Pathogenic rs1553259707 1:161276701-161276701 1:161306911-161306911
35 RETREG1 NM_001034850.2(RETREG1): c.926C> G (p.Ser309Ter) single nucleotide variant Pathogenic rs137852739 5:16477845-16477845 5:16477736-16477736
36 RETREG1 NM_001034850.2(RETREG1): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs137852737 5:16565897-16565897 5:16565788-16565788
37 GJB1 NM_000166.6(GJB1): c.8G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs1555936989 X:70443565-70443565 X:71223715-71223715
38 GJB1 NM_000166.6(GJB1): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs1241595912 X:70444048-70444048 X:71224198-71224198
39 MFN2 NM_014874.3(MFN2): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs28940294 1:12061480-12061480 1:12001423-12001423
40 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 12:119624885-119624885 12:119187080-119187080
41 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 12:119624883-119624883 12:119187078-119187078
42 GDAP1 NM_018972.4(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 8:75272419-75272419 8:74360184-74360184
43 GDAP1 NM_018972.4(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 8:75276240-75276240 8:74364005-74364005
44 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 1:10318660-10318660 1:10258602-10258602
45 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 1:12052746-12052746 1:11992689-11992689
46 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 12:110236628-110236628 12:109798823-109798823
47 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 12:110238471-110238471 12:109800666-109800666
48 CTDP1 NM_004715.4(CTDP1): c.863+389C> T single nucleotide variant Pathogenic rs113994102 18:77470825-77470825 18:79710825-79710825
49 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 12:110236625-110236625 12:109798820-109798820
50 ELP1 NM_003640.5(ELP1): c.2204+6T> C single nucleotide variant Pathogenic rs111033171 9:111662096-111662096 9:108899816-108899816

Expression for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy.

Pathways for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

GO Terms for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Cellular components related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.47 KIF1B INF2 IGHMBP2 HSPB8 HSPB1 GJB1

Biological processes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.16 PMP22 EGR2
2 chaperone-mediated protein folding GO:0061077 8.96 HSPB1 DNAJB2
3 myelin assembly GO:0032288 8.62 PMP22 FIG4

Sources for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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