CMT
MCID: CHR071
MIFTS: 70

Charcot-Marie-Tooth Disease (CMT) malady

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

Summaries for Charcot-Marie-Tooth Disease

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44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 charcot-marie-tooth disease type 1a, 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 dihydroprogesterone and progesterone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related mouse phenotypes are limbs/digits/tail and normal.

MedlinePlus:35 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:45 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the

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.

Wikipedia:66 Charcot?Marie?Tooth disease (CMT), also known as Charcot?Marie?Tooth neuropathy, hereditary motor and... more...

Description from OMIM:48 180800

Aliases & Classifications for Charcot-Marie-Tooth Disease

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Sources:
9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 63UMLS, 28ICD9CM, 41NCIt, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Aliases & Descriptions:

charcot-marie-tooth disease 9 66 44 22 45 11 46 35 63
roussy-levy syndrome 66 48 46 63
hereditary motor and sensory neuropathy 66 44 22
peroneal muscular atrophy 9 66 22
roussy-levy disease 44 21 23
hmsn 66 44 22
cmt 66 44 22
charcot marie tooth disease 44 23
pma 66 22
hereditary areflexic dystasia, roussy-lévy type 50
hereditary motor and sensory neuropathy type i 63
hereditary motor and sensory neuropathies 63
roussy levy hereditary areflexic dystasia 44
charcot-marie-tooth hereditary neuropathy 22
charcot-marie-tooth-roussy-levy disease 44
hereditary motor sensory neuropathy i 44
charcot-marie-tooth disease, type ib 63
charcot marie tooth muscular atrophy 9
cmt - charcot-marie-tooth disease 9
peroneal muscular atrophy nos 9
hereditary areflexic dystasia 44
charcot-marie-tooth syndrome 22
dejerine-sottas syndrome 66
dejerine-sottas disease 63
roussy-lévy syndrome 50
roussy levy syndrome 44
hmsn type i 46
hmsn i 44


External Ids:

Disease Ontology9 DOID:10595
ICD9CM28 356.1
NCIt41 C75467
MeSH36 D002607
OMIM48 180800
ICD10 via Orphanet27 G60.0
SNOMED-CT via Orphanet60 45853006
UMLS via Orphanet64 C0205713

Related Diseases for Charcot-Marie-Tooth Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease Type 2
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 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 281)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease32.7PMP22, MPZ, GJB1, EGR2
2charcot-marie-tooth disease type 1a32.1CMT1A, PMP22
3neuropathy31.5SBF2, GJB1, EGR2, MTMR2, NEFL, LITAF
4hereditary neuropathy with liability to pressure palsies31.4PMP22
5hereditary neuropathies31.3PMP22, MPZ, LMNA, MTMR2, GJB1
6charcot-marie-tooth disease type 4b131.3MTMR2, SBF2
7charcot-marie-tooth disease type 1e31.3PMP22, CMT1A
8polyneuropathy31.0PMP22, MPZ, GJB1, EGR2
9charcot-marie-tooth disease type 4e31.0PMP22, MPZ, EGR2
10motor peripheral neuropathy31.0MPZ, PMP22
11spinal muscular atrophy30.9LMNA, MPZ
12charcot-marie-tooth disease type 330.9PMP22, MPZ, GJB1, EGR2
13pelizaeus-merzbacher disease30.6MPZ
14axonal neuropathy30.6KIF1B, HSPB1
15charcot-marie-tooth neuropathy type 1a30.6MPZ, PMP22
16neuritis30.5MPZ, PMP22
17inherited peripheral neuropathy30.5PMP22, MPZ, GJB1, EGR2
18neuropathy, recurrent, with pressure palsies30.5CMT1A, PMP22
19charcot-marie-tooth neuropathy type 130.5PMP22, MPZ, LITAF, NEFL, EGR2
20glaucoma30.5HSPB1, MTMR2, SBF2
21charcot-marie-tooth neuropathy type 230.4GDAP1, MFN2, HSPB8, HSPB1, MPZ, LMNA
22myopathy30.3GDAP1, MFN2, PMP22, SH3TC2, HSPB8, HSPB1
23clubfoot30.0GDAP1, HOXD10
24x-linked charcot-marie-tooth disease11.2
25charcot-marie-tooth disease type 111.0
26charcot-marie-tooth disease type 211.0
27charcot-marie-tooth disease type 1b11.0
28charcot-marie-tooth disease type 2e10.9
29autosomal dominant intermediate charcot-marie-tooth disease type e10.8
30charcot-marie-tooth disease type 2b10.8
31charcot-marie-tooth disease type 2d10.8
32hereditary neuropathy with liability to pressure palsy10.8
33hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
34charcot-marie-tooth disease type 410.8
35charcot-marie-tooth disease type 1c10.8
36charcot-marie-tooth disease type 2b110.8
37charcot-marie-tooth disease type 2b210.8
38charcot-marie-tooth disease type 2c10.8
39x-linked charcot-marie-tooth disease type 510.8
40charcot-marie-tooth neuropathy type 4a10.8
41charcot-marie-tooth disease type 1d10.8
42charcot-marie-tooth disease type 2f10.8
43charcot-marie-tooth disease type 2a10.8
44charcot-marie-tooth disease type 2g10.8
45charcot-marie-tooth disease type 2h10.8
46charcot-marie-tooth disease type 2j10.8
47charcot-marie-tooth disease type 2k10.8
48charcot-marie-tooth disease type 4b210.8
49peripheral neuropathy10.7
50charcot-marie-tooth disease type 1f10.7

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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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

180800

Clinical features from OMIM:

180800

Symptoms:

50
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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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21GeneTests, 23GTR
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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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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease:

34
Brain, Testes, Spinal cord, 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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38MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8HOXD10, PMP22, LMNA, MTMR2, EGR2
2MP:00028738.8MFN2, HSPB1, LMNA, NEFL, CHM, MTMR2
3MP:00053698.7HOXD10, MFN2, PMP22, HSPB8, LMNA, KIF1B
4MP:00053768.3HSPB8, MPZ, LMNA, LITAF, CHM, GJB1
5MP:00053898.3HOXD10, PMP22, MPZ, LMNA, MTMR2, SBF2
6MP:00053848.1HOXD10, MFN2, PMP22, HSPB8, MPZ, LMNA
7MP:00053907.7HOXD10, MFN2, SH3TC2, LMNA, KIF1B, EGR2
8MP:00107687.6HSPB8, PMP22, MFN2, HOXD10, MPZ, LMNA
9MP:00053866.8HOXD10, MFN2, PMP22, SH3TC2, MPZ, LMNA
10MP:00036316.1EGR2, HOXD10, MFN2, PMP22, SH3TC2, MPZ

Publications for Charcot-Marie-Tooth Disease

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53PubMed
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Articles related to Charcot-Marie-Tooth Disease:

(show top 50)    (show all 782)
idTitleAuthorsYear
1
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
2014
2
Animal models and therapeutic prospects for Charcot-Marie-Tooth disease. (23913540)
2013
3
New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male. (24263033)
2013
4
Charcot-Marie-Tooth disease presenting as a nonhealing ulcer in a 26-year-old man. (22371199)
2012
5
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. (21940171)
2012
6
Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation. (22271166)
2012
7
A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-tooth disease. (22089961)
2012
8
Goya and a possible first visual representation of Charcot-Marie-Tooth disease. (22499111)
2012
9
Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease. (21587243)
2011
10
Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement. (21193943)
2011
11
Intractable epilepsy, audio-visual hallucinations and Charcot-Marie-Tooth disease 1A in an African-American boy. (21870475)
2011
12
Charcot-Marie-Tooth disease complicating type 2 diabetes. (21817005)
2011
13
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. (21820100)
2011
14
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. (19949810)
2010
15
Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis. (19950375)
2010
16
Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease. (20560959)
2010
17
Charcot-Marie-Tooth disease. (19277060)
2009
18
Molecular diagnosis of axonal forms of Charcot-Marie-Tooth disease]. (19942244)
2009
19
Mitochondrial disease mimicking Charcot-Marie Tooth disease. (21731582)
2009
20
Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease. (18385625)
2008
21
Charcot-Marie-Tooth disease and the cavovarus foot. (18457773)
2008
22
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. (18844790)
2008
23
Phosphoinositides and Charcot-Marie-tooth disease: new keys to old questions. (17965826)
2007
24
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease. (17869996)
2007
25
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance. (17294201)
2007
26
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
27
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants. (16452125)
2006
28
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551. (17297707)
2006
29
Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet. (16791058)
2006
30
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
31
Autosomal-recessive Charcot-Marie-Tooth diseases. (15892292)
2005
32
An animal model for Charcot-Marie-Tooth disease type 4B1. (16249189)
2005
33
Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations. (15083299)
2004
34
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. (15239197)
2004
35
Central neural blockade in Charcot-Marie-Tooth disease. (15574563)
2004
36
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
2004
37
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (15122254)
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease:

65
id Symbol AA change Variation ID SNP ID
1MPZp.Asn131LysVAR_015978

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

1 (show all 35)
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
17EGR2NM_000399.3(EGR2): c.1075C> T (p.Arg359Trp)single nucleotide variantPathogenicrs104894161GRCh37Chr 10, 64573323: 64573323
18MPZNM_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
19MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
20MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
21MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
22MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
23MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
24MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
25MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
26MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
27MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275954: 161275955
28MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
29MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
30MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
31MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
32MPZNM_000530.6(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764
33PRXNM_181882.2(PRX): c.586C> T (p.Arg196Ter)single nucleotide variantPathogenicrs104894706GRCh37Chr 19, 40903673: 40903673
34PRXNM_181882.2(PRX): c.3208C> T (p.Arg1070Ter)single nucleotide variantPathogenicrs104894708GRCh37Chr 19, 40901051: 40901051
35PMP22PMP22, 1.4-MB DUPduplicationPathogenic

Expression for genes affiliated with Charcot-Marie-Tooth Disease

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Sources:
2BioGPS, 16Gene 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

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Sources:
51PathCards, 39NCBI BioSystems Database
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GJB1, MPZ, PMP22

Compounds for genes affiliated with Charcot-Marie-Tooth Disease

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank
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Compounds related to Charcot-Marie-Tooth Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4610.2PMP22, MPZ
2progesterone46 30 62 25 1213.6GJB1, MPZ, HSPB1, PMP22
3creatinine469.4NEFL, LMNA, MPZ, HSPB1
4arginine469.3GJB1, LMNA, MPZ, HSPB1, PMP22
5cysteine469.1PMP22, HSPB1, MPZ, CHM, GJB1
6retinoic acid46 2510.0PMP22, HSPB1, LMNA, NEFL, GJB1

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

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Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:0057749.4SBF2, MTMR2
2cytosolGO:0058298.2MTMR2, 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:00808910.1KIF1B, NEFL
3myelinationGO:0425529.8EGR2, SBF2
4peripheral nervous system developmentGO:0074229.8EGR2, PMP22
5cell deathGO:0082199.7MFN2, HSPB8, HSPB1
6protein tetramerizationGO:0512629.6SBF2, MTMR2

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.9EGR2, PMP22, HSPB8, HSPB1, LMNA, LITAF

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet