CMT
MCID: CHR071
MIFTS: 69

Charcot-Marie-Tooth Disease (CMT) malady

Neuronal diseases, Muscle diseases categories

Summaries for Charcot-Marie-Tooth Disease

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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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

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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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
hereditary motor and sensory neuropathies 60
charcot-marie-tooth hereditary neuropathy 21
charcot-marie-tooth-roussy-levy disease 42
hereditary motor sensory neuropathy i 42
charcot marie tooth muscular atrophy 8
charcot-marie-tooth disease, type ib 60
cmt - charcot-marie-tooth disease 8
hereditary areflexic dystasia 42
peroneal muscular atrophy nos 8
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

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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

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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

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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

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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

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Sources:
30LifeMap Discovery™, 32MalaCards
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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

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Sources:
36MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease:

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

Publications for Charcot-Marie-Tooth Disease

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Sources:
50PubMed
See all sources

Articles related to Charcot-Marie-Tooth Disease:

(show top 50)    (show all 832)
idTitleAuthorsYear
1
Sexual functioning in women with mild and severe symptoms of Charcot-Marie-Tooth disease. (23534937)
2013
2
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. (23434117)
2013
3
Sleep disorders in Charcot-Marie-Tooth disease type 1. (23704315)
2013
4
A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-tooth disease. (22089961)
2012
5
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
6
X-linked Charcot-Marie-Tooth disease. (23279425)
2012
7
Pediatric orthopedic conditions in Charcot-Marie-Tooth disease: a literature review. (22189393)
2012
8
Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy. (22745917)
2012
9
Charcot-Marie-Tooth disease in Northern England. (21984771)
2012
10
Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. (22275255)
2012
11
Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease. (21900630)
2011
12
Superior mesenteric artery syndrome in a patient with Charcot Marie Tooth disease. (22224174)
2011
13
Neuropathic leg ulcer indicating late adult-onset of Charcot-Marie-Tooth disease. (21571202)
2011
14
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. (21199105)
2010
15
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. (20532933)
2010
16
The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease. (20225023)
2009
17
Psychological distress in patients with Charcot-Marie-Tooth disease. (19182736)
2009
18
Hand function and disability of the arm, shoulder and hand in Charcot-Marie-Tooth disease. (19479509)
2009
19
Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a. (18852440)
2008
20
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. (17881652)
2007
21
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. (17200131)
2007
22
Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. (17294338)
2007
23
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. (18421898)
2007
24
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. (16787513)
2006
25
Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease. Accession #Hm0550. (17297706)
2006
26
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. (16488608)
2006
27
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot- Marie-Tooth disease. (15998640)
2005
28
Current Therapy for Charcot-Marie-Tooth Disease. (15610704)
2005
29
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. (15099588)
2004
30
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. (15197604)
2004
31
Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. (15518599)
2004
32
Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. (15170620)
2004
33
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. (12477167)
2002
34
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. (11891346)
2002
35
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families. (11438991)
2001
36
Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. (11140948)
2000
37
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A. (10780790)
2000
38
Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. (10487913)
1999
39
Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication. (10451742)
1999
40
A unique point mutation in the PMP22 gene is associated with Charcot- Marie-Tooth disease and deafness. (10330345)
1999
41
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). (9452099)
1998
42
Charcot-Marie-Tooth disease and related peripheral neuropathies. (10975746)
1997
43
A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. (9040744)
1997
44
Charcot-Marie-Tooth disease type 1A: a family study with microsatellites. (8972170)
1996
45
Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. (8733121)
1996
46
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. (8532623)
1995
47
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. (8615087)
1995
48
Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. (8128981)
1993
49
Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a. (8375058)
1993
50
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. (1303228)
1992

Genetic Variations for Charcot-Marie-Tooth Disease

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Sources:
62UniProtKB/Swiss-Prot
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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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database
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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

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44Novoseek
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Compounds related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

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

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

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease

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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