MCID: CHR023
MIFTS: 32

Charcot-Marie-Tooth Disease Type 2 malady

Summaries for Charcot-Marie-Tooth Disease Type 2

Sources:
47OMIM, 33MalaCards
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MalaCards: Charcot-Marie-Tooth Disease Type 2, also known as charcot-marie-tooth disease, type 2, is related to tooth disease and autosomal dominant disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2 is HSPB8 (heat shock 22kDa protein 8), and among its related pathways are Cytoskeletal Signaling and Neural Crest Differentiation. The compounds anticodon and atp have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and normal.

Description from OMIM:47 607731, 608673, 613287, 601472, 118210 605588, 606071, 607831, 605589, 607677, 609260, 607736, 600882, 607684, 606595 more

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

Sources:
8Disease Ontology, 64Wikipedia, 22GTR, 47OMIM
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Aliases & Descriptions:

charcot-marie-tooth disease type 2 8
charcot-marie-tooth disease, type 2 64 22
ar-cmt2 64


Related Diseases for Charcot-Marie-Tooth Disease Type 2

Sources:
17GeneCards, 18GeneDecks
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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 4 charcot-marie-tooth disease type 3
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 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 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant 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 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d 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

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease31.6GJB1, MPZ
2autosomal dominant disease10.7
3x-linked charcot-marie-tooth disease type 210.6
4restless legs syndrome10.5
5charcot-marie-tooth disease type 110.5
6char syndrome10.5
7neuromyotonia and axonal neuropathy, autosomal recessive10.5
8autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation10.5
9autosomal dominant charcot-marie-tooth disease type 210.5
10autosomal recessive axonal charcot-marie-tooth disease type 210.5
11acute leukemia10.4
12autosomal genetic disease10.4
13charcot-marie-tooth disease type 2j10.4
14spastic paraplegia 10, autosomal dominant10.4
15axonal neuropathy10.0KIF1B, HSPB1
16muscular atrophy10.0TRPV4
17charcot-marie-tooth neuropathy type 110.0NEFL, MPZ
18charcot-marie-tooth neuropathy type 2a10.0KIF1B, MFN2
19distal hereditary motor neuropathy10.0GZMH, GARS
20polyneuropathy10.0GJB1, MPZ
21charcot-marie-tooth disease type 2b10.0RAB7A, CMT2B
22charcot-marie-tooth disease type 310.0MPZ, GJB1
23wallerian degeneration10.0NEFM, MPZ
24amyotrophic lateral sclerosis10.0HSPB1, NEFM, NEFL
25hereditary neuropathies10.0GJB1, MPZ
26alzheimer's disease10.0HSPB8, MPZ, NEFM, NEFL
27motor neuron disease10.0HSPB1, HSPB8
28sensory peripheral neuropathy10.0GJB1, GDAP1, MPZ, MFN2
29charcot-marie-tooth neuropathy type 210.0HSPB8, RAB7A, KIF1B, GDAP1, NEFL, MPZ
30myopathy10.0HSPB8, HSPB1, MFN2, GARS, MPZ, NEFL
31neuropathy10.0GJB1, GDAP1, DNM2, TRPV4, NEFL, NEFM
32charcot-marie-tooth disease9.9MPZ, GARS, MFN2, HSPB1, NEFL, TRPV4

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



Diseases related to charcot-marie-tooth disease type 2

Clinical Features for Charcot-Marie-Tooth Disease Type 2

Sources:
47OMIM
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Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 2

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

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2

Genetic Tests for Charcot-Marie-Tooth Disease Type 2

Sources:
22GTR
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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 222

Anatomical Context for Charcot-Marie-Tooth Disease Type 2

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4HSPB8, DYNC1H1, MFN2, GARS, TRPV4, DNM2
2MP:00028738.1HSPB1, MFN2, GARS, NEFL, DNM2, DVL1
3MP:00107687.7DYNC1H1, MFN2, GARS, MPZ, DNM2, GJB1
4MP:00053867.4MPZ, GARS, MFN2, DYNC1H1, NEFM, TRPV4
5MP:00036317.3AARS, DYNC1H1, MFN2, GARS, MPZ, NEFM

Publications for Charcot-Marie-Tooth Disease Type 2

Sources:
51PubMed
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Articles related to Charcot-Marie-Tooth Disease Type 2:

idTitleAuthorsYear
1
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]. (17029975)
2006
2
136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands. (16684603)
2006

Genetic Variations for Charcot-Marie-Tooth Disease Type 2

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
4Cell Signaling Technology, 38NCBI BioSystems Database, 12EMD Millipore, 54Reactome
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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
19.5RAB7A, KIF1B, DNM2, NEFL
29.5DVL1, GJB1, MPZ
3
Hide members
9.4KIF5A, NEFL, NEFM, DYNC1H1
4
Hide members
9.2DYNC1H1, DNM2, KIF5A, RAB7A

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

Sources:
45Novoseek, 29IUPHAR
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Compounds related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1anticodon459.9AARS, GARS
2atp45 299.9AARS, GJB1, NEFL, GARS, DYNC1H1, HSPB1
3serine458.3HSPB1, GZMH, GARS, MPZ, NEFM, GJB1

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

Sources:
16Gene Ontology
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Cellular components related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurofilamentGO:00588310.1NEFL, NEFM
2microtubuleGO:0058748.8KIF5A, KIF1B, DVL1, DNM2, DYNC1H1
3cytosolGO:0058297.6HSPB1, DYNC1H1, MFN2, GARS, NEFL, DNM2

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

idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:00808910.1KIF1B, NEFL
2microtubule-based movementGO:0070189.4KIF5A, KIF1B, DYNC1H1
3antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.1DYNC1H1, DNM2, KIF5A, RAB7A
4cell deathGO:0082198.9KIF5A, TRPV4, GARS, DYNC1H1, HSPB1, HSPB8

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

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:0037779.7KIF5A, KIF1B, DYNC1H1
2Rac GTPase bindingGO:0483659.6RAB7A, DVL1
3microtubule bindingGO:0080179.5KIF5A, KIF1B, DNM2, TRPV4
4protein kinase bindingGO:0199019.1HSPB1, TRPV4, DNM2, DVL1
5protein bindingGO:0055157.0HSPB8, HSPB1, DYNC1H1, MFN2, MED25, NEFM

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet