MCID: CHR071
MIFTS: 60

Charcot-Marie-Tooth Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases categories

Aliases & Classifications for Charcot-Marie-Tooth Disease

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Charcot-Marie-Tooth Disease, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease 30 9 63 41 21 42 11 43 32 60
Hereditary Motor and Sensory Neuropathy 63 41 21
Peroneal Muscular Atrophy 9 63 21
Hmsn 63 41 21
Cmt 63 41 21
Charcot-Marie-Tooth Hereditary Neuropathy 41 21
Charcot-Marie-Tooth Syndrome 21 22
Roussy-Levy Syndrome 63 60
 
Pma 63 21
Autosomal Dominant Hereditary Demyelinating Motor and Sensory Neuropathy 41
Hereditary Motor and Sensory Neuropathies 60
Charcot Marie Tooth Muscular Atrophy 9
Cmt - Charcot-Marie-Tooth Disease 9
Charcot Marie Tooth Disease 41
Dejerine-Sottas Syndrome 63
Dejerine-Sottas Disease 60


Classifications:



External Ids:

Disease Ontology9 DOID:10595
NCIt38 C75467
ICD9CM27 356.1
MeSH33 D002607

Summaries for Charcot-Marie-Tooth Disease

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NIH Rare Diseases:41 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 based summary: Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to tooth disease and charcot-marie-tooth disease, type 1a, and has symptoms including abnormality of the pharynx, decreased nerve conduction velocity and gait disturbance. An important gene associated with Charcot-Marie-Tooth Disease is MPZ (myelin protein zero), and among its related pathways are Neural Crest Differentiation and Cytoskeletal Signaling. The compounds dihydroprogesterone and progesterone have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related mouse phenotypes are respiratory system and normal.

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:32 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:42 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 motor and... more...

Related Diseases for Charcot-Marie-Tooth Disease

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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Type 4b2
Charcot-Marie-Tooth Disease, Type 4b1 Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 2b2 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type 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 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease Type 2k
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

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

(show top 50)    (show all 262)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease33.0GJB1, EGR2, PMP22, MPZ
2charcot-marie-tooth disease, type 1a32.7MPZ, PMP22
3neuropathy, congenital hypomyelinating31.9MPZ, EGR2
4dejerine-sottas disease31.6EGR2, GJB1, MPZ, PMP22
5charcot-marie-tooth disease, type 4b131.6SBF2, MTMR2
6neuropathy, recurrent, with pressure palsies31.6PMP22
7motor peripheral neuropathy31.5MPZ, PMP22
8roussy-levy syndrome31.5MPZ, PMP22
9spinal muscular atrophy31.2MPZ, LMNA
10pelizaeus-merzbacher disease31.2MPZ
11polyneuropathy31.1PMP22, PRX, MPZ, EGR2, GJB1
12hereditary neuropathies31.0GJB1, PMP22, MPZ, LMNA, PRX, MTMR2
13charcot-marie-tooth disease, type 2e31.0HSPB1, HSPB8, MFN2, GDAP1, MPZ, LMNA
14axonal neuropathy31.0HSPB1, KIF1B
15neuritis31.0MPZ, PMP22
16sensorineural hearing loss30.8PMP22, GJB1
17charcot-marie-tooth neuropathy type 130.6MPZ, EGR2, LITAF, PMP22, NEFL
18clubfoot30.2GDAP1, HOXD10
19neuropathy30.1MTMR2, PRX, NEFL, LMNA, MPZ, HSPB8
20myopathy28.7GJB1, SBF2, MTMR2, PRX, NEFL, LMNA
21charcot-marie-tooth disease, type 1b11.1
22charcot-marie-tooth disease, type 1e11.0
23charcot-marie-tooth disease, type 2b10.9
24charcot-marie-tooth disease, type 2d10.9
25charcot-marie-tooth disease, type 4c10.9
26charcot-marie-tooth disease, type 4a10.9
27charcot-marie-tooth disease, type 2b210.9
28charcot-marie-tooth disease, type 2b110.9
29charcot-marie-tooth disease, type 1c10.9
30hereditary neuropathy with liability to pressure palsy10.9
31x-linked charcot-marie-tooth disease type 510.9
32charcot-marie-tooth disease, type 2j10.9
33charcot-marie-tooth disease, type 1d10.9
34autosomal dominant intermediate charcot-marie-tooth disease type e10.9
35charcot-marie-tooth disease, type 2i10.8
36charcot-marie-tooth disease type 2a10.8
37charcot-marie-tooth disease type 2g10.8
38charcot-marie-tooth disease, type 4d10.8
39charcot-marie-tooth disease, type 4b210.8
40charcot-marie-tooth disease, type 4h10.8
41charcot-marie-tooth disease, type 1f10.8
42charcot-marie-tooth disease type 2c10.8
43charcot-marie-tooth disease type 2f10.8
44hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
45charcot-marie-tooth disease, type 2a110.8
46charcot-marie-tooth disease type 2h10.8
47charcot-marie-tooth disease type 2k10.8
48hereditary motor and sensory neuropathy, proximal type10.8
49charcot-marie-tooth disease, type 2a210.8
50charcot-marie-tooth disease, type 4j10.8

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



Diseases related to charcot-marie-tooth disease

Symptoms for Charcot-Marie-Tooth Disease

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HPO human phenotypes related to Charcot-Marie-Tooth Disease:

(show all 13)
id Description Frequency HPO Source Accession
1 abnormality of the pharynx hallmark (90%) HP:0000600
2 decreased nerve conduction velocity hallmark (90%) HP:0000762
3 gait disturbance hallmark (90%) HP:0001288
4 reduced tendon reflexes hallmark (90%) HP:0001315
5 laryngomalacia hallmark (90%) HP:0001601
6 abnormality of the voice hallmark (90%) HP:0001608
7 incoordination hallmark (90%) HP:0002311
8 scoliosis hallmark (90%) HP:0002650
9 kyphosis hallmark (90%) HP:0002808
10 amyotrophy hallmark (90%) HP:0003202
11 emg abnormality hallmark (90%) HP:0003457
12 hemiplegia/hemiparesis hallmark (90%) HP:0004374
13 impaired pain sensation hallmark (90%) HP:0007328

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Genetic Tests for Charcot-Marie-Tooth Disease

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Genetic tests related to Charcot-Marie-Tooth Disease:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease22

Anatomical Context for Charcot-Marie-Tooth Disease

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

31
Brain, Spinal cord, Testes, Skeletal muscle

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9PRX, EGR2, HSPB8, LMNA, KIF1B
2MP:00028738.2NEFL, MFN2, HSPB1, LMNA, EGR2, MTMR2
3MP:00053718.2EGR2, MTMR2, HOXD10, PMP22, LMNA
4MP:00053698.0HSPB8, HOXD10, LMNA, PMP22, MFN2, KIF1B
5MP:00053897.6EGR2, MTMR2, HOXD10, PMP22, LMNA, MPZ
6MP:00053847.5LITAF, HOXD10, MFN2, LMNA, MPZ, HSPB8
7MP:00107687.1GJB1, MTMR2, KIF1B, LMNA, MPZ, HSPB8
8MP:00053866.7EGR2, KIF1B, SBF2, MTMR2, PRX, LMNA
9MP:00036316.0MFN2, HOXD10, EGR2, GJB1, KIF1B, MTMR2

Publications for Charcot-Marie-Tooth Disease

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Articles related to Charcot-Marie-Tooth Disease:

(show top 50)    (show all 849)
idTitleAuthorsYear
1
Tremor in Charcot-Marie-Tooth disease: No evidence of cerebellar dysfunction. (25641441)
2015
2
Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. (25403865)
2014
3
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. (24957169)
2014
4
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
2014
5
Charcot-marie-tooth disease and other inherited neuropathies. (25299278)
2014
6
Animal models and therapeutic prospects for Charcot-Marie-Tooth disease. (23913540)
2013
7
New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male. (24263033)
2013
8
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
9
Charcot-Marie-Tooth disease presenting as a nonhealing ulcer in a 26-year-old man. (22371199)
2012
10
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. (21940171)
2012
11
Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation. (22271166)
2012
12
A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-tooth disease. (22089961)
2012
13
Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease. (21587243)
2011
14
Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement. (21193943)
2011
15
Intractable epilepsy, audio-visual hallucinations and Charcot-Marie-Tooth disease 1A in an African-American boy. (21870475)
2011
16
Charcot-Marie-Tooth disease complicating type 2 diabetes. (21817005)
2011
17
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. (21820100)
2011
18
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. (19949810)
2010
19
Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis. (19950375)
2010
20
Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease. (20560959)
2010
21
Charcot-Marie-Tooth disease. (19277060)
2009
22
Molecular diagnosis of axonal forms of Charcot-Marie-Tooth disease]. (19942244)
2009
23
Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease. (18385625)
2008
24
Charcot-Marie-Tooth disease and the cavovarus foot. (18457773)
2008
25
Phosphoinositides and Charcot-Marie-tooth disease: new keys to old questions. (17965826)
2007
26
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease. (17869996)
2007
27
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance. (17294201)
2007
28
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants. (16452125)
2006
29
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551. (17297707)
2006
30
Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet. (16791058)
2006
31
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. (15654615)
2005
32
Autosomal-recessive Charcot-Marie-Tooth diseases. (15892292)
2005
33
An animal model for Charcot-Marie-Tooth disease type 4B1. (16249189)
2005
34
Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations. (15083299)
2004
35
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. (15239197)
2004
36
Central neural blockade in Charcot-Marie-Tooth disease. (15574563)
2004
37
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
2004
38
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. (14561495)
2003
39
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
40
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. (11112660)
2001
41
The human neuregulin 2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. (10369162)
1999
42
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. (9401007)
1997
43
Novel mutation of the myelin Po gene in a pedigree with Charcot- Marie-Tooth disease type 1B. (9217235)
1997
44
Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. (10330199)
1996
45
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. (8682501)
1996
46
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. (8733054)
1996
47
Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication]. (8821490)
1995
48
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie- Tooth disease (CMTX1). (8162049)
1994
49
Linkage and mutation analysis in an extended family with Charcot- Marie-Tooth disease type 1B. (7530774)
1994
50
Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study. (15401720)
1950

Variations for Charcot-Marie-Tooth Disease

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Clinvar genetic disease variations for Charcot-Marie-Tooth Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GJB1NM_001097642.2(GJB1): c.407T> C (p.Val136Ala)single nucleotide variantPathogenicrs104894826GRCh37Chr X, 70443964: 70443964
2MPZNM_000530.6(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
3PRXNM_181882.2(PRX): c.586C> T (p.Arg196Ter)single nucleotide variantPathogenicrs104894706GRCh37Chr 19, 40903673: 40903673
4PRXNM_181882.2(PRX): c.3208C> T (p.Arg1070Ter)single nucleotide variantPathogenicrs104894708GRCh37Chr 19, 40901051: 40901051

Expression for genes affiliated with Charcot-Marie-Tooth Disease

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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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Pathways related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GJB1, MPZ, PMP22
29.5KIF1B, NEFL, LMNA

Compounds for genes affiliated with Charcot-Marie-Tooth Disease

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Sources:
43Novoseek, 28IUPHAR, 59Tocris Bioscience, 24HMDB, 12DrugBank
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Compounds related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4310.0MPZ, PMP22
2progesterone43 28 59 24 1213.5GJB1, MPZ, HSPB1, PMP22
3arginine439.1GJB1, LMNA, MPZ, HSPB1, PMP22
4creatinine438.9HSPB1, MPZ, LMNA, NEFL
5retinoic acid43 249.9PMP22, HSPB1, LMNA, NEFL, GJB1

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

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

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:00057749.2MTMR2, SBF2
2cytoplasmGO:00057377.8HSPB8, HSPB1, LMNA, LITAF, NEFL, PRX

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

idNameGO IDScoreTop Affiliating Genes
1myelin assemblyGO:00322889.9MTMR2, PMP22
2anterograde axon cargo transportGO:00080899.9NEFL, KIF1B
3peripheral nervous system developmentGO:00074229.7EGR2, PMP22
4myelinationGO:00425529.6EGR2, SBF2
5cell deathGO:00082199.4PRX, HSPB1, HSPB8, MFN2
6protein tetramerizationGO:00512629.4SBF2, MTMR2

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428038.7GJB1, SBF2, MTMR2, PRPS1
2protein bindingGO:00055155.6EGR2, MFN2, PMP22, HSPB8, HSPB1, LMNA

Products for genes affiliated with Charcot-Marie-Tooth Disease

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Sources for Charcot-Marie-Tooth Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet