CMT
MCID: CHR071
MIFTS: 69

Charcot-Marie-Tooth Disease (CMT) malady

Neuronal diseases, Muscle diseases categories

Summaries for Charcot-Marie-Tooth Disease

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Charcot-marie-tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. defects in at least 30 genes cause different forms of this disease. common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. there is currently no cure for charcot-marie-tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms.there are over 40 types of charcot-marie-tooth disease. you can search for more information on a particular type of charcot-marie-tooth disease from the gard home page. enter the name of the condition in the gard search box, and then select the type from the drop down menu. last updated: 7/23/2010

MalaCards: Charcot-Marie-Tooth Disease, also known as roussy-levy syndrome, is related to tooth disease and neuropathy, and has symptoms including autosomal recessive inheritance, muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy and areflexia/hyporeflexia. An important gene associated with Charcot-Marie-Tooth Disease is MPZ (myelin protein zero), and among its related pathways is Neural Crest Differentiation. The compounds arginine and cysteine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related mouse phenotypes are nervous system and muscle.

Genetics Home Reference:21 Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.

MedlinePlus:33 Charcot-marie-tooth disease (cmt) is a group of genetic nerve disorders. it is named after the three doctors who first identified it. in the united states, cmt affects about 1 in 2,500 people. cmt affects your peripheral nerves. peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. symptoms usually start around the teen years. foot problems such as high arches or hammertoes can be early symptoms. as cmt progresses, your lower legs may weaken. later, your hands may also become weak. doctors diagnose cmt by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. there is no cure. the disease can be so mild you don't realize you have it or severe enough to make you weak. physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. nih: national institute of neurological disorders and stroke

NINDS:43 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the

Wikipedia:63 Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy, hereditary... more...

Description from OMIM:46 180800

Aliases & Classifications for Charcot-Marie-Tooth Disease

About this section
Sources:
63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 8Disease Ontology, 43NINDS, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 46OMIM, 22GTR, 20GeneTests, 48Orphanet, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

charcot-marie-tooth disease 8 63 42 21 43 10 44 33 60
roussy-levy syndrome 63 46 44 60
hereditary motor and sensory neuropathy 63 42 21
peroneal muscular atrophy 8 63 21
roussy levy syndrome 42 20 22
hmsn 63 42 21
cmt 63 42 21
charcot marie tooth disease 42 22
pma 63 21
hereditary areflexic dystasia, roussy-lévy type 48
hereditary motor and sensory neuropathy type i 60
charcot-marie-tooth hereditary neuropathy 21
hereditary motor and sensory neuropathies 60
charcot-marie-tooth-roussy-levy disease 42
hereditary motor sensory neuropathy i 42
charcot-marie-tooth disease, type ib 60
charcot marie tooth muscular atrophy 8
cmt - charcot-marie-tooth disease 8
peroneal muscular atrophy nos 8
hereditary areflexic dystasia 42
charcot-marie-tooth syndrome 21
dejerine-sottas syndrome 63
dejerine-sottas disease 60
roussy-lévy syndrome 48
hmsn type i 44
hmsn i 42


External Ids:

Disease Ontology8 DOID:10595
NCIt39 C75467
MeSH34 D002607
ICD9CM27 356.1
OMIM46 180800
ICD10 via Orphanet26 G60.0
SNOMED-CT via Orphanet57 45853006
UMLS via Orphanet61 C0205713

Related Diseases for Charcot-Marie-Tooth Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Charcot-Marie-Tooth Disease Type 3 family:

Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Disease Type 1
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 4 charcot-marie-tooth disease
Charcot-Marie-Tooth Neuropathy Type 1 Charcot-Marie-Tooth Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4 Charcot-Marie-Tooth Neuropathy Type 4a
Charcot-Marie-Tooth Neuropathy Type 4c Charcot-Marie-Tooth Neuropathy Type 4h
Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Disease Dominant Intermediate 1 Charcot-Marie-Tooth Disease Dominant Intermediate 2
Charcot-Marie-Tooth Disease Dominant Intermediate 3 Charcot-Marie-Tooth Disease Type 1a
Charcot-Marie-Tooth Disease Type 1b Charcot-Marie-Tooth Disease Type 1c
Charcot-Marie-Tooth Disease Type 1d Charcot-Marie-Tooth Disease Type 1e
Charcot-Marie-Tooth Disease Type 1f Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Disease Type 2b1
Charcot-Marie-Tooth Disease Type 2b2 Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Type 2e
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease Type 2i
Charcot-Marie-Tooth Disease Type 2j Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 4b1 Charcot-Marie-Tooth Disease Type 4b2
Charcot-Marie-Tooth Disease Type 4e Charcot-Marie-Tooth Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Neuropathy Type 4b2
Charcot-Marie-Tooth Neuropathy Type 2b2 Charcot-Marie-Tooth Neuropathy Type 2b1
Charcot-Marie-Tooth Neuropathy Type 2g Charcot-Marie-Tooth Neuropathy Type 2l
Charcot-Marie-Tooth Neuropathy Type 2i/2j Charcot-Marie-Tooth Neuropathy Type 2h/2k
Charcot-Marie-Tooth Neuropathy X Type 2 Charcot-Marie-Tooth Neuropathy X Type 3
Charcot-Marie-Tooth Neuropathy X Type 4 Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5
Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 2n Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 2d Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 2o Charcot-Marie-Tooth Neuropathy Type 2p
Charcot-Marie-Tooth Neuropathy Type 4b3 Charcot-Marie-Tooth Neuropathy Type 1b
Charcot-Marie-Tooth Neuropathy Type 1c Charcot-Marie-Tooth Neuropathy Type 2a2
Charcot-Marie-Tooth Neuropathy Type 2b Charcot-Marie-Tooth Neuropathy Type 2c
Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Neuropathy Type 4d
Charcot-Marie-Tooth Neuropathy Type 4e Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy Type 1a Charcot-Marie-Tooth Neuropathy Type 1d
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 2r Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Recessive Intermediate, B
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 4b3 Surf1-Related Charcot-Marie-Tooth Disease Type 4

Diseases related to Charcot-Marie-Tooth Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 290)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease32.5EGR2, GJB1, PMP22, MPZ
2neuropathy31.7GJB1, SBF2, GDAP1, LMNA, EGR2, MFN2
3hereditary neuropathy with liability to pressure palsies31.2PMP22
4charcot-marie-tooth disease type 1a31.1CMT1A, PMP22
5charcot-marie-tooth disease type 1e31.1CMT1A, PMP22
6peripheral neuropathy31.1NDRG1
7charcot-marie-tooth disease type 4b131.0MTMR2, SBF2
8charcot-marie-tooth neuropathy type 130.9LITAF, NEFL, MPZ, EGR2, PMP22
9polyneuropathy30.9NDRG1, MPZ, PMP22, GJB1, EGR2
10motor peripheral neuropathy30.8PMP22, MPZ
11charcot-marie-tooth disease type 4e30.8MPZ, EGR2, PMP22
12charcot-marie-tooth disease type 330.7PMP22, EGR2, MPZ, GJB1
13charcot-marie-tooth neuropathy type 230.6HSPB1, HSPB8, MFN2, MPZ, KIF1B, LMNA
14myopathy30.6LMNA, GJB1, SBF2, GDAP1, SH3TC2, MTMR2
15sensory peripheral neuropathy30.4GJB1, GDAP1, LITAF, MTMR2, MPZ, EGR2
16neuropathy, recurrent, with pressure palsies30.4PMP22, CMT1A
17charcot-marie-tooth neuropathy type 430.4GDAP1, NDRG1, EGR2, MTMR2, SH3TC2, SBF2
18axonal neuropathy30.4KIF1B, HSPB1
19hereditary neuropathies30.4LMNA, GJB1, MTMR2, MPZ, NDRG1, PMP22
20charcot-marie-tooth neuropathy type 1a30.4PMP22, MPZ
21pelizaeus-merzbacher disease30.4MPZ
22x-linked disease11.2
23charcot-marie-tooth disease type 211.1
24charcot-marie-tooth disease type 111.1
25autosomal recessive disease11.0
26charcot-marie-tooth hereditary neuropathy11.0
27chromosomal disease10.9
28autosomal dominant disease10.9
29autosomal dominant intermediate charcot-marie-tooth disease type e10.8
30charcot-marie-tooth disease type 410.8
31charcot-marie-tooth disease type 2b110.8
32charcot-marie-tooth disease type 2b210.8
33hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
34hereditary sensory neuropathy10.8
35charcot-marie-tooth neuropathy type 4a10.8
36charcot-marie-tooth disease type 1b10.8
37charcot-marie-tooth disease type 2b10.8
38charcot-marie-tooth disease type 2f10.8
39x-linked charcot-marie-tooth disease type 510.8
40central nervous system disease10.7
41nervous system disease10.7
42neuromuscular disease10.7
43charcot-marie-tooth disease type 1c10.7
44charcot-marie-tooth disease type 1d10.7
45charcot-marie-tooth disease type 2c10.7
46charcot-marie-tooth disease type 2d10.7
47charcot-marie-tooth disease type 2g10.7
48charcot-marie-tooth disease type 2h10.7
49charcot-marie-tooth disease type 2j10.7
50charcot-marie-tooth disease type 2k10.7

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



Diseases related to charcot-marie-tooth disease

Clinical Features for Charcot-Marie-Tooth Disease

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

180800

Clinical synopsis from OMIM:

180800

Symptoms:

48
  • autosomal recessive inheritance
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • areflexia/hyporeflexia
  • movement disorder
  • abnormal gait
  • nerve conduction abnormality

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Search CenterWatch for Charcot-Marie-Tooth Disease

Genetic Tests for Charcot-Marie-Tooth Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Charcot-Marie-Tooth Disease:

id Genetic test Affiliating Genes
1 Roussy-Levy Syndrome20 MPZ
2 Roussy-Lévy Syndrome22
3 Charcot-Marie-Tooth Disease22

Anatomical Context for Charcot-Marie-Tooth Disease

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

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

32
Brain, Spinal cord, Testes, Skeletal muscle

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Charcot-Marie-Tooth Disease:
id TissueAnatomical CompartmentCell Relevance
1 Peripheral Nervous SystemPeripheral Nerve DomainMyelinating Schwann Cells Affected by disease

Animal Models for Charcot-Marie-Tooth Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.5SBF2, LMNA, KIF1B, NEFL, CHM, LITAF
2MP:000536910.5KIF1B, LMNA, MFN2, NDRG1, HSPB8, PMP22
3MP:000538610.5PMP22, NDRG1, MFN2, EGR2, MPZ, MTMR2
4MP:001076810.4EGR2, LMNA, GJB1, CHM, MTMR2, MPZ
5MP:000287310.2HSPB1, MFN2, EGR2, NEFL, MTMR2, CHM

Publications for Charcot-Marie-Tooth Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Charcot-Marie-Tooth Disease:

(show top 50)    (show all 832)
idTitleAuthorsYear
1
A comprehensive evaluation of the variation in ankle function during gait in children and youth with Charcot-Marie-Tooth disease. (23702343)
2013
2
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. (24078732)
2013
3
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. (23749797)
2013
4
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland. (23456260)
2013
5
Charcot-Marie-Tooth disease presenting as a nonhealing ulcer in a 26-year-old man. (22371199)
2012
6
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
7
Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease. (22341131)
2012
8
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. (22689911)
2012
9
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. (21892769)
2012
10
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. (22730194)
2012
11
Charcot-Marie-Tooth disease and intracellular traffic. (22465036)
2012
12
The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration. (21168501)
2011
13
Prevalence of symptomatic Charcot-Marie-Tooth disease in Iceland: a study of a well-defined population. (19893324)
2010
14
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. (19427854)
2009
15
Acromial stress fracture in a young wheelchair user with Charcot-Marie-Tooth disease: a case report. (19040744)
2008
16
Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease. (18579801)
2008
17
Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. (19047708)
2008
18
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. (18698610)
2008
19
Phenotype of Charcot-Marie-Tooth disease Type 2. (17502546)
2007
20
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease. (17620124)
2007
21
Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]. (17874344)
2007
22
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. (17636067)
2007
23
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. (17347251)
2007
24
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. (17215403)
2007
25
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. (16750429)
2006
26
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities. (16688595)
2006
27
Pregnancy in Charcot-Marie-Tooth disease. (16753695)
2006
28
Electrodiagnostic studies in a murine model of demyelinating Charcot-Marie-Tooth disease. (16214054)
2005
29
Phrenic nerve involvement in Charcot-Marie-Tooth disease. (16294569)
2005
30
Response to cisatracurium in patient with Charcot-Marie-Tooth disease. (15816600)
2005
31
Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease]. (15192818)
2004
32
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. (14561495)
2003
33
Fluorescence in situ hybridization (FISH) for identifying the genomic rearrangements associated with three myelinopathies. Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and Pelizaeus-Merzbacher disease. (12491936)
2003
34
The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C. (12469216)
2003
35
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. (12062259)
2002
36
Disability and quality of life in Charcot-Marie-Tooth disease type 1. (11254787)
2001
37
Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. (10751671)
2000
38
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (10841809)
2000
39
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. (10998431)
2000
40
Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1). (9466597)
1998
41
New mutations in the X-linked form of Charcot-Marie-Tooth disease. (9018031)
1997
42
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. (9272161)
1997
43
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. (8682501)
1996
44
Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. (8956042)
1996
45
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. (7891814)
1995
46
Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. (7501164)
1995
47
Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication]. (7612387)
1995
48
A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene]. (7537189)
1994
49
Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. (7991130)
1994
50
Palmoplantar keratoderma and Charcot-Marie-Tooth disease. (6446889)
1980

Genetic Variations for Charcot-Marie-Tooth Disease

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Charcot-Marie-Tooth Disease:

62
id Symbol AA change Variation ID SNP ID
1MPZp.Asn131LysVAR_015978

Expression for genes affiliated with Charcot-Marie-Tooth Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease

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

Pathways for genes affiliated with Charcot-Marie-Tooth Disease

About this section
Sources:
37NCBI BioSystems Database
See all sources

Pathways related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5GJB1, MPZ

Compounds for genes affiliated with Charcot-Marie-Tooth Disease

About this section
Sources:
44Novoseek
See all sources

Compounds related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine4410.5PMP22, HSPB1, MPZ, GJB1, LMNA
2cysteine4410.4CHM, PMP22, HSPB1, NDRG1, GJB1, MPZ
3dihydroprogesterone4410.2MPZ, PMP22

GO Terms for genes affiliated with Charcot-Marie-Tooth Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:00577410.5SBF2, MTMR2

Biological processes related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:00808910.5KIF1B, NEFL
2peripheral nervous system myelin maintenanceGO:03228710.4SH3TC2, NDRG1
3myelin assemblyGO:03228810.2MTMR2, PMP22

Molecular functions related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.4KIF1B, HSPB8, HSPB1, NDRG1, MFN2, MED25

Products for genes affiliated with Charcot-Marie-Tooth Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet