Charcot-Marie-Tooth Disease (CMT) malady

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

Summaries for Charcot-Marie-Tooth Disease

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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 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 is Neural Crest Differentiation. 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 limbs/digits/tail and muscle.

Genetics Home Reference:22 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:64 Charcot?Marie?Tooth disease (CMT), also known as Charcot?Marie?Tooth neuropathy, hereditary motor and... more...

Description from OMIM:46 180800

Aliases & Classifications for Charcot-Marie-Tooth Disease

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31LifeMap Discovery®, 9Disease Ontology, 64Wikipedia, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 43NINDS, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 61UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 28ICD9CM, 62UMLS via Orphanet, 27ICD10 via Orphanet
See all sources

Charcot-Marie-Tooth Disease, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease 31 9 64 42 22 43 11 44 33 61
Hereditary Motor and Sensory Neuropathy 64 42 22 61
Roussy-Levy Syndrome 64 46 44 61
Roussy-Levy Disease 42 21 23 61
Peroneal Muscular Atrophy 9 64 22
Hmsn 64 42 22
Cmt 64 42 22
Charcot-Marie-Tooth Hereditary Neuropathy 22 61
Charcot Marie Tooth Muscular Atrophy 9 61
Cmt - Charcot-Marie-Tooth Disease 9 61
Charcot-Marie-Tooth Syndrome 22 61
Charcot Marie Tooth Disease 42 23
Dejerine-Sottas Syndrome 64 61
Pma 64 22
Hereditary Areflexic Dystasia, Roussy-LĂ©vy Type 48
Hereditary Motor and Sensory Neuropathy Type I 61
Roussy-Levy Hereditary Areflexic Dystasia 61
Roussy Levy Hereditary Areflexic Dystasia 42
Hereditary Motor and Sensory Neuropathies 61
Charcot-Marie-Tooth-Roussy-Levy Disease 42
Hereditary Motor Sensory Neuropathy I 42
Charcot-Marie-Tooth Disease, Type Ib 61
Hereditary Areflexic Dystasia 42
Roussy-LĂ©vy Syndrome 48
Roussy Levy Syndrome 42
Hmsn Type I 44
Hmsn I 42


External Ids:

Disease Ontology9 DOID:10595
MeSH34 D002607
NCIt39 C75467
ICD9CM28 356.1
UMLS via Orphanet62 C0205713
OMIM46 180800
ICD10 via Orphanet27 G60.0

Related Diseases for Charcot-Marie-Tooth Disease

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Diseases in the Charcot-Marie-Tooth Disease 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 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy 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 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 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 Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
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 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 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
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 Charcot-Marie-Tooth Disease Type 2g

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

(show top 50)    (show all 251)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease33.1EGR2, GJB1, MPZ, PMP22
2charcot-marie-tooth disease type 1a32.5CMT1A, PMP22
3hereditary neuropathy with liability to pressure palsies32.1PMP22
4charcot-marie-tooth disease type 132.1PMP22, CMT1A
5charcot-marie-tooth disease type 431.9EGR2, MPZ, PMP22
6charcot-marie-tooth disease type 4b131.8SBF2, MTMR2
7chronic inflammatory demyelinating polyneuropathy31.7MPZ, PMP22
8charcot-marie-tooth disease type 331.3MPZ, EGR2, PMP22, GJB1
9spinal muscular atrophy31.3MPZ, LMNA
10pelizaeus-merzbacher disease31.2MPZ
11hereditary neuropathies31.2PMP22, MPZ, PRX, MTMR2, GJB1, LMNA
12axonal neuropathy31.1HSPB1, KIF1B
13polyneuropathy31.1EGR2, GJB1, PRX, MPZ, PMP22
14neuritis31.0MPZ, PMP22
15inherited peripheral neuropathy30.9PMP22, EGR2, GJB1, MPZ
16neuropathy, recurrent, with pressure palsies30.9PMP22, CMT1A
17charcot-marie-tooth neuropathy type 130.8PMP22, MPZ, LITAF, NEFL, EGR2
18neuropathy30.7SBF2, MTMR2, PRX, LITAF, LMNA, MPZ
19charcot-marie-tooth neuropathy type 1a30.6MPZ, PMP22
20clubfoot30.4GDAP1, HOXD10
21charcot-marie-tooth neuropathy type 230.4NEFL, LMNA, MPZ, HSPB1, HSPB8, GDAP1
22myopathy29.4GJB1, GDAP1, SBF2, MTMR2, PRX, NEFL
23charcot-marie-tooth disease type 211.1
24charcot-marie-tooth disease type 1b11.0
25hereditary neuropathy with liability to pressure palsy10.9
26autosomal dominant intermediate charcot-marie-tooth disease type e10.9
27charcot-marie-tooth disease type 2b10.9
28hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
29charcot-marie-tooth disease type 2d10.8
30charcot-marie-tooth disease type 1c10.8
31charcot-marie-tooth disease type 2b110.8
32charcot-marie-tooth disease type 2b210.8
33charcot-marie-tooth disease type 2c10.8
34charcot-marie-tooth neuropathy type 4a10.8
35charcot-marie-tooth disease type 1d10.8
36charcot-marie-tooth disease type 2a10.8
37charcot-marie-tooth disease type 2f10.8
38x-linked charcot-marie-tooth disease type 510.8
39charcot-marie-tooth disease type x10.8
40charcot-marie-tooth disease type 2g10.8
41charcot-marie-tooth disease type 2h10.8
42charcot-marie-tooth disease type 2j10.8
43charcot-marie-tooth disease type 2k10.8
44charcot-marie-tooth disease type 4b210.8
45peripheral neuropathy10.8
46charcot-marie-tooth disease type 1f10.8
47charcot-marie-tooth disease type 2i10.8
48charcot-marie-tooth neuropathy type 4c10.7
49charcot-marie-tooth neuropathy type 4j10.7
50neuropathy, hereditary motor and sensory, lom type10.7

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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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



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

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

(show all 34)
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
14 autosomal dominant inheritance HP:0000006
15 hyporeflexia HP:0001265
16 motor delay HP:0001270
17 areflexia HP:0001284
18 pes cavus HP:0001761
19 hammertoe HP:0001765
20 gait ataxia HP:0002066
21 action tremor HP:0002345
22 distal muscle weakness HP:0002460
23 abnormality of the immune system HP:0002715
24 kyphoscoliosis HP:0002751
25 distal sensory impairment HP:0002936
26 decreased number of peripheral myelinated nerve fibers HP:0003380
27 hypertrophic nerve changes HP:0003382
28 onion bulb formation HP:0003383
29 decreased motor nerve conduction velocity HP:0003431
30 segmental peripheral demyelination/remyelination HP:0003481
31 juvenile onset HP:0003621
32 slow progression HP:0003677
33 distal amyotrophy HP:0003693
34 upper limb postural tremor HP:0007351

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 Roussy-Levy Syndrome21 MPZ
2 Roussy-LĂ©vy Syndrome23
3 Charcot-Marie-Tooth Disease23

Anatomical Context for Charcot-Marie-Tooth Disease

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

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

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1HOXD10, PMP22, LMNA, MTMR2, EGR2
2MP:00053699.1HOXD10, MFN2, PMP22, HSPB8, LMNA, KIF1B
3MP:00028739.1MFN2, HSPB1, LMNA, NEFL, CHM, MTMR2
4MP:00053898.9HOXD10, PMP22, MPZ, LMNA, MTMR2, SBF2
5MP:00053768.8HSPB8, MPZ, LMNA, LITAF, CHM, GJB1
6MP:00053848.6HOXD10, MFN2, PMP22, HSPB8, MPZ, LMNA
7MP:00053788.6MFN2, PMP22, LMNA, CHM, PRX, MTMR2
8MP:00107688.3HSPB8, PMP22, MFN2, HOXD10, MPZ, LMNA
9MP:00053868.2HOXD10, MFN2, PMP22, MPZ, LMNA, PRX
10MP:00036317.6EGR2, HOXD10, MFN2, PMP22, MPZ, LMNA

Publications for Charcot-Marie-Tooth Disease

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Articles related to Charcot-Marie-Tooth Disease:

(show top 50)    (show all 820)
Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. (25403865)
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. (24957169)
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
Charcot-marie-tooth disease and other inherited neuropathies. (25299278)
Animal models and therapeutic prospects for Charcot-Marie-Tooth disease. (23913540)
New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male. (24263033)
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
Charcot-Marie-Tooth disease presenting as a nonhealing ulcer in a 26-year-old man. (22371199)
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. (21940171)
Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation. (22271166)
A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-tooth disease. (22089961)
Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease. (21587243)
Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement. (21193943)
Intractable epilepsy, audio-visual hallucinations and Charcot-Marie-Tooth disease 1A in an African-American boy. (21870475)
Charcot-Marie-Tooth disease complicating type 2 diabetes. (21817005)
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. (21820100)
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. (19949810)
Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis. (19950375)
Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease. (20560959)
Charcot-Marie-Tooth disease. (19277060)
Molecular diagnosis of axonal forms of Charcot-Marie-Tooth disease]. (19942244)
Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease. (18385625)
Charcot-Marie-Tooth disease and the cavovarus foot. (18457773)
Phosphoinositides and Charcot-Marie-tooth disease: new keys to old questions. (17965826)
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease. (17869996)
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance. (17294201)
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants. (16452125)
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551. (17297707)
Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet. (16791058)
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. (15654615)
Autosomal-recessive Charcot-Marie-Tooth diseases. (15892292)
An animal model for Charcot-Marie-Tooth disease type 4B1. (16249189)
Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations. (15083299)
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. (15239197)
Central neural blockade in Charcot-Marie-Tooth disease. (15574563)
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (15122254)
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. (14561495)
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)
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. (11112660)
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)
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. (9401007)
Novel mutation of the myelin Po gene in a pedigree with Charcot- Marie-Tooth disease type 1B. (9217235)
Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. (10330199)
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. (8682501)
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. (8733054)
Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication]. (8821490)
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie- Tooth disease (CMTX1). (8162049)
Linkage and mutation analysis in an extended family with Charcot- Marie-Tooth disease type 1B. (7530774)
Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study. (15401720)

Variations for Charcot-Marie-Tooth Disease

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

id Symbol AA change Variation ID SNP ID

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

7 (show all 34)
id Gene Name 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.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
3MPZNM_000530.6(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
4MPZNM_000530.6(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
5MPZNM_000530.6(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
6MPZNM_000530.6(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
7MPZNM_000530.6(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
8MPZNM_000530.6(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
9MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
10MPZNM_000530.6(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
11MPZNM_000530.6(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
12MPZNM_000530.6(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
13MPZNM_000530.6(MPZ): c.393C> A (p.Asn131Lys)single nucleotide variantPathogenicrs121913599GRCh37Chr 1, 161276553: 161276553
14MPZNM_000530.6(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
15MPZNM_000530.6(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
16MPZNM_000530.6(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
17MPZNM_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
18MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
19MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
20MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
21MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
22MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
23MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
24MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
25MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
26MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275954: 161275955
27MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
28MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
29MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
30MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
31MPZNM_000530.6(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764
32PRXNM_181882.2(PRX): c.586C> T (p.Arg196Ter)single nucleotide variantPathogenicrs104894706GRCh37Chr 19, 40903673: 40903673
33PRXNM_181882.2(PRX): c.3208C> T (p.Arg1070Ter)single nucleotide variantPathogenicrs104894708GRCh37Chr 19, 40901051: 40901051
34PMP22PMP22, 1.4-MB DUPduplicationPathogenic

Expression for genes affiliated with Charcot-Marie-Tooth Disease

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0GJB1, MPZ, PMP22

Compounds for genes affiliated with Charcot-Marie-Tooth Disease

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44Novoseek, 29IUPHAR, 60Tocris Bioscience, 25HMDB, 12DrugBank
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Compounds related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4410.2PMP22, MPZ
2progesterone44 29 60 25 1213.8GJB1, MPZ, HSPB1, PMP22
3creatinine449.6NEFL, LMNA, MPZ, HSPB1
4arginine449.6GJB1, LMNA, MPZ, HSPB1, PMP22
5retinoic acid44 2510.3PMP22, HSPB1, LMNA, NEFL, GJB1
6cysteine449.3PMP22, HSPB1, MPZ, CHM, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:0057749.6SBF2, MTMR2
2cytosolGO:0058298.8MTMR2, PRPS1, CHM, NEFL, LMNA, HSPB1

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

idNameGO IDScoreTop Affiliating Genes
1myelin assemblyGO:03228810.1MTMR2, PMP22
2anterograde axon cargo transportGO:00808910.1NEFL, KIF1B
3myelinationGO:04255210.0EGR2, SBF2
4peripheral nervous system developmentGO:0074229.8EGR2, PMP22
5protein tetramerizationGO:0512629.8SBF2, MTMR2
6cell deathGO:0082199.7PRX, HSPB1, HSPB8, MFN2

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.4EGR2, PMP22, HSPB8, HSPB1, LMNA, LITAF

Products for genes affiliated with Charcot-Marie-Tooth Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Charcot-Marie-Tooth Disease

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet