MCID: CHR023
MIFTS: 59

Charcot-Marie-Tooth Disease Type 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Ear diseases, Fetal diseases, Mental diseases, Metabolic diseases categories
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Summaries for Charcot-Marie-Tooth Disease Type 2

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MalaCards based summary: Charcot-Marie-Tooth Disease Type 2, also known as charcot-marie-tooth disease, type 2e, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including An important gene associated with Charcot-Marie-Tooth Disease Type 2 is NEFL (neurofilament, light polypeptide), and among its related pathways are Cytoskeletal Signaling and Cytoplasmic microtubules. The compounds dihydroprogesterone and polyacrylamide have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and muscle.

Descriptions from OMIM:46 607677, 607831, 609260, 600882, 615490 607731, 607684, 118210, 605589, 606071, 608591, 601472, 614436, 607736, 613287, 605588, 615025, 608673, 606595, 614228 more

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Charcot-Marie-Tooth Disease Type 2, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease Type 2 8
Charcot-Marie-Tooth Disease, Type 2e 9 46
Charcot Marie Tooth Disease Type 2e 42 22
Cmt 2e 42 62
Cmt2e 48 62
 
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 48
Charcot-Marie-Tooth Disease, Axonal, Type 2e 42
Charcot-Marie-Tooth Disease, Type 2 65
Charcot-Marie-Tooth Disease Type 2e 42
Ar-Cmt2 65


Classifications:



Characteristics (Orphanet epidemiological data):

48
cmt2e:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:0050539
ICD9CM27 356.0
ICD10 via Orphanet26 G60.0

Related Diseases for Charcot-Marie-Tooth Disease Type 2

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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 Surf1-Related Charcot-Marie-Tooth Disease Type 4

Diseases related to Charcot-Marie-Tooth Disease Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease32.1PMP22, MPZ
2tooth disease31.9PMP22, MPZ, GJB1
3neuropathy29.2GARS, GJB1, NEFM, NEFL, MPZ, HSPB8
4neuromyotonia and axonal neuropathy, autosomal recessive10.7
5x-linked charcot-marie-tooth disease type 210.7
6charcot-marie-tooth neuropathy type 2e/1f10.6
7restless legs syndrome10.6
8autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation10.6
9autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation10.6
10charcot-marie-tooth neuropathy type 410.5GDAP1
11pelizaeus-merzbacher disease10.4MPZ
12acute lymphoblastic leukemia10.4
13leukemia10.4
14lymphoblastic leukemia10.4
15charcot-marie-tooth disease type 2j10.4
16giant axonal neuropathy 2, autosomal dominant10.4
17spastic paraplegia 10, autosomal dominant10.4
18hereditary neuropathy with liability to pressure palsies10.4PMP22
19axonal neuropathy10.4KIF1B, HSPB1
20charcot-marie-tooth neuropathy type 2a10.4MFN2, KIF1B
21distal hereditary motor neuropathy10.3GARS
22polyradiculoneuropathy10.3PMP22
23wallerian degeneration10.3NEFM, MPZ
24motor neuron disease10.3HSPB1, HSPB8
25charcot-marie-tooth neuropathy type 1a10.2PMP22, MPZ
26charcot-marie-tooth disease type 410.2PMP22, MPZ
27chronic inflammatory demyelinating polyneuropathy10.2PMP22, MPZ
28brachial plexus neuropathy10.2PMP22, MPZ
29guillain-barre syndrome10.2MPZ, PMP22
30amyotrophic lateral sclerosis type 1410.2NEFM, NEFL, HSPB1
31diabetic neuropathy10.2MPZ, PMP22
32charcot-marie-tooth neuropathy type 110.1PMP22, MPZ, NEFL
33neuritis10.1PMP22, MPZ
34inherited peripheral neuropathy10.1PMP22, MPZ, GJB1
35charcot-marie-tooth disease type 310.1GJB1, MPZ, PMP22
36hereditary neuropathies10.1GJB1, MPZ, PMP22
37polyneuropathy10.1GJB1, MPZ, PMP22
38charcot-marie-tooth disease, type 2a110.1
39charcot-marie-tooth disease, type 2a210.1
40sensorineural hearing loss10.1PMP22, GJB1
41malignant glioma9.9GJB1, NEFL, HSPB1, PMP22
42sensory peripheral neuropathy9.9GDAP1, MFN2, PMP22, MPZ, GJB1
43alzheimer's disease9.9HSPB8, MPZ, NEFL, NEFM
44charcot-marie-tooth neuropathy type 29.6GDAP1, MFN2, HSPB8, HSPB1, MPZ, NEFL
45myopathy9.3GDAP1, GARS, GJB1, NEFL, MPZ, HSPB1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2:



Diseases related to charcot-marie-tooth disease type 2

Symptoms for Charcot-Marie-Tooth Disease Type 2

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Symptoms by clinical synopsis from OMIM:

607684

Clinical features from OMIM:

607677, 607831, 609260, 600882, 615490, 607731, 607684, 118210, 605589, 606071 608591, 601472, 614436, 607736, 613287, 605588, 615025, 608673, 606595, 614228 more

HPO human phenotypes related to Charcot-Marie-Tooth Disease Type 2:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 ulnar claw HP:0001178
3 hyporeflexia HP:0001265
4 areflexia HP:0001284
5 pes cavus HP:0001761
6 hammertoe HP:0001765
7 distal muscle weakness HP:0002460
8 distal sensory impairment HP:0002936
9 steppage gait HP:0003376
10 decreased motor nerve conduction velocity HP:0003431
11 distal amyotrophy HP:0003693
12 hypotrophy of the small hand muscles HP:0006006
13 foot dorsiflexor weakness HP:0009027

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 2

Search NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2

Genetic Tests for Charcot-Marie-Tooth Disease Type 2

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Genetic tests related to Charcot-Marie-Tooth Disease Type 2:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2e22
2 Charcot-Marie-Tooth Disease, Type 222

Anatomical Context for Charcot-Marie-Tooth Disease Type 2

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Animal Models for Charcot-Marie-Tooth Disease Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7TRPV4, ACTG1, DVL1, PMP22
2MP:00053697.4MFN2, PMP22, HSPB8, ACTG1, KIF1B, GARS
3MP:00107686.6MFN2, PMP22, DVL1, HSPB8, MPZ, ACTG1
4MP:00053865.8MPZ, DVL1, PMP22, MFN2, NEFM, ACTG1
5MP:00036315.7TRPV4, MFN2, PMP22, DVL1, MPZ, NEFL

Publications for Charcot-Marie-Tooth Disease Type 2

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Articles related to Charcot-Marie-Tooth Disease Type 2:

(show all 28)
idTitleAuthorsYear
1
A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. (25098539)
2014
2
Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2. (23929728)
2014
3
Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction. (24530046)
2014
4
A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene. (24803844)
2013
5
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (23141294)
2012
6
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. (21258814)
2011
7
Anesthetic management in Charcot-Marie-Tooth disease type 2 due to a mutation in the mitofusin-2 gene. (21772703)
2011
8
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. (22206013)
2011
9
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (20008656)
2009
10
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. (19657941)
2009
11
Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. (18797198)
2008
12
Magnetic resonance imaging findings of leg musculature in Charcot- Marie-Tooth disease type 2 due to dynamin 2 mutation. (18560793)
2008
13
Phenotype of Charcot-Marie-Tooth disease Type 2. (17502546)
2007
14
Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family]. (16331815)
2005
15
Disease course of Charcot-Marie-Tooth disease type 2 and comorbidity. (15364699)
2004
16
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. (14985381)
2004
17
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. (15021985)
2004
18
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. (12810486)
2003
19
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. (11528513)
2001
20
Charcot-Marie-Tooth disease type 2 with restless legs syndrome. (10691014)
2000
21
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (10841809)
2000
22
Charcot-Marie-Tooth disease type 2 and P0 gene mutations. (10102454)
1999
23
Charcot-Marie-Tooth disease type 2 with restless legs syndrome. (10102430)
1999
24
Charcot-Marie-Tooth disease type 2. (10586228)
1999
25
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. (9595994)
1998
26
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. (9409358)
1997
27
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. (8406488)
1993
28
Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities. (1549221)
1992

Variations for Charcot-Marie-Tooth Disease Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease Type 2:

64
id Symbol AA change Variation ID SNP ID
1NEFLp.Gln332ProVAR_009703rs59443585
2NEFLp.Pro8ArgVAR_016020rs60261494
3NEFLp.Pro22SerVAR_016021rs28928910
4NEFLp.Leu336ProVAR_021613
5NEFLp.Glu396LysVAR_021614

Clinvar genetic disease variations for Charcot-Marie-Tooth Disease Type 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1NEFLNM_006158.4(NEFL): c.995A> C (p.Gln332Pro)single nucleotide variantPathogenicrs59443585GRCh37Chr 8, 24813035: 24813035
2NEFLNM_006158.4(NEFL): c.64C> T (p.Pro22Ser)single nucleotide variantPathogenicrs28928910GRCh37Chr 8, 24813966: 24813966
3NEFLNM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg)indelPathogenicrs60261494GRCh37Chr 8, 24814007: 24814007
4NEFLNEFL, 13-BP DUP/INS, NT61duplicationPathogenic
5NEFLNM_006158.4(NEFL): c.281T> C (p.Leu94Pro)single nucleotide variantPathogenicrs62636505GRCh37Chr 8, 24813749: 24813749
6PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh37Chr 17, 15142825: 15142826
7NEFLNM_006158.4(NEFL): c.1001A> C (p.Gln334Pro)single nucleotide variantPathogenicrs281865140GRCh37Chr 8, 24813029: 24813029

Expression for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 2

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2.

Pathways for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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Pathways related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KIF1B, ACTG1, NEFL
2
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.3ACTG1, NEFM, NEFL
39.2DVL1, ACTG1, KIF1B
49.1GJB1, MPZ, DVL1, PMP22

Compounds for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 61Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4410.1MPZ, PMP22
2polyacrylamide449.4HSPB1, NEFL, NEFM
3anticodon449.3GARS, AARS
4retinoic acid44 2410.3PMP22, HSPB1, NEFL, NEFM, GJB1
5progesterone44 28 61 24 1113.3PMP22, HSPB1, MPZ, GJB1
6superoxide44 2410.3HSPB1, NEFL, NEFM, ACTG1
7gaba449.1GARS, GJB1, PMP22
8aminoacyl-trna449.0GARS, AARS
9cysteine448.5PMP22, HSPB1, MPZ, GJB1, GARS
10atp44 289.4GARS, GJB1, AARS, NEFL, HSPB1
11alanine448.3HSPB1, NEFM, AARS, GARS, TRPV4
12serine447.9GARS, GJB1, AARS, NEFM, MPZ, HSPB1

GO Terms for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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Cellular components related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurofilamentGO:00588310.0NEFM, NEFL
2axonGO:0304249.6NEFM, NEFL, DVL1
3cytoplasmic vesicleGO:0314109.2TRPV4, KIF1B, DVL1
4cytosolGO:0058297.1MFN2, DVL1, HSPB1, NEFL, ACTG1, AARS

Biological processes related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:00808910.1KIF1B, NEFL
2neurofilament bundle assemblyGO:03369310.1NEFM, NEFL
3negative regulation of neuron projection developmentGO:0109779.7PMP22, TRPV4
4retina homeostasisGO:0018959.5ACTG1, HSPB1
5tRNA aminoacylation for protein translationGO:0064189.1GARS, AARS
6cell deathGO:0082198.2TRPV4, MFN2, HSPB8, HSPB1, DHTKD1, GARS
7gene expressionGO:0104678.1GARS, AARS, MED25, HSPB1

Molecular functions related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase C bindingGO:0050809.7TRPV4, HSPB1
2structural constituent of cytoskeletonGO:0052009.3NEFL, NEFM, ACTG1
3microtubule bindingGO:0080179.1NEFM, KIF1B, TRPV4
4identical protein bindingGO:0428028.8ACTG1, NEFL, HSPB1, HSPB8, DVL1
5protein bindingGO:0055157.1MFN2, PMP22, DVL1, HSPB8, HSPB1, NEFL

Products for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Charcot-Marie-Tooth Disease Type 2

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet