CMT1
MCID: CHR113
MIFTS: 25

Charcot-Marie-Tooth Neuropathy Type 1 (CMT1) malady

Neuronal category

Summaries for Charcot-Marie-Tooth Neuropathy Type 1

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19GeneReviews, 33MalaCards
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MalaCards: Charcot-Marie-Tooth Neuropathy Type 1, also known as hereditary motor and sensory neuropathies, is related to charcot-marie-tooth disease type 3 and motor peripheral neuropathy. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1 is PMP22 (peripheral myelin protein 22), and among its related pathways is Neural Crest Differentiation. The compounds ganglioside and dihydroprogesterone have been mentioned in the context of this disorder. Related mouse phenotype nervous system.

GeneReviews summary for cmt1

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 1

Sources:
61UMLS, 19GeneReviews, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

charcot-marie-tooth neuropathy type 1 19 20
hereditary motor and sensory neuropathies 61
charcot-marie-tooth disease, type ib 61
hereditary motorsensory neuropathy 1 19
dejerine-sottas disease 61
hmsn1 19
cmt1 19


Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

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 Neuropathy Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease type 330.9GJB1, MPZ, EGR2, PMP22
2motor peripheral neuropathy30.9PMP22, MPZ
3hereditary neuropathies30.9MPZ, GJB1, PMP22
4tooth disease30.8EGR2, MPZ, GJB1, PMP22
5hereditary neuropathy with liability to pressure palsies30.6PMP22
6charcot-marie-tooth disease type 1a30.4PMP22, CMT1A
7charcot-marie-tooth neuropathy type 230.4MPZ, NEFL
8sensorineural hearing loss30.4PMP22, GJB1
9sensory peripheral neuropathy30.4GJB1, MPZ, EGR2, PMP22, LITAF
10hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.7
11charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
12hereditary motor and sensory neuropathy vi10.7
13corpus callosum agenesis10.6
14neuropathy, hereditary motor and sensory, okinawa type10.6
15neuropathy, hereditary motor and sensory, russe type10.5
16charcot-marie-tooth neuropathy type 1b10.5
17axonal neuropathy10.5
18refsum disease10.5
19juvenile glaucoma10.5
20neuropathy, hereditary motor and sensory, lom type10.5
21glaucoma, hereditary10.5
22charcot-marie-tooth neuropathy type 2c10.5
23charcot-marie-tooth hereditary neuropathy10.5
24dejerine-sottas disease, autosomal recessive10.5
25lambert-eaton myasthenic syndrome10.3
26superior mesenteric artery syndrome10.3
27cochlear disease10.3
28autonomic neuropathy10.3
29charcot-marie-tooth neuropathy type 4a10.3
30aplasia cutis congenita10.3
31auditory neuropathy10.3
32lambert syndrome10.3
33charcot-marie-tooth disease type 1d10.3
34charcot-marie-tooth disease type 2a10.3
35charcot-marie-tooth disease type 2b10.3
36charcot-marie-tooth disease type 2b110.3
37charcot-marie-tooth disease type 2b210.3
38charcot-marie-tooth disease type 2h10.3
39charcot-marie-tooth disease type 4b210.3
40cowchock syndrome10.3
41chronic inflammatory demyelinating polyneuropathy10.3
42hansen's disease10.3
43motor sensory neuropathy type 1 aplasia cutis congenita10.3
44keratoderma10.3
45hereditary sensory neuropathy type id10.3
46mental retardation10.3
47charcot-marie-tooth disease, type 2a110.3
48charcot-marie-tooth disease, type 2a210.3
49pulmonary function10.3
50neuropathy, inflammatory demyelinating10.3

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Neuropathy Type 1:



Diseases related to charcot-marie-tooth neuropathy type 1

Clinical Features for Charcot-Marie-Tooth Neuropathy Type 1

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 1

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

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Drug clinical trials:

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Search NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 1

Search CenterWatch for Charcot-Marie-Tooth Neuropathy Type 1

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 1

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20GeneTests
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Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 1:

id Genetic test Affiliating Genes
1 Charcot-marie-tooth Neuropathy Type 120 PMP22

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 1

Animal Models for Charcot-Marie-Tooth Neuropathy Type 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Neuropathy Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7GJB1, LITAF, NEFL, MPZ, EGR2, PMP22

Publications for Charcot-Marie-Tooth Neuropathy Type 1

Sources:
51PubMed
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Articles related to Charcot-Marie-Tooth Neuropathy Type 1:

(show all 11)
idTitleAuthorsYear
1
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. (12554688)
2003
2
Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy]. (12154515)
2002
3
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. (9626246)
1998
4
3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands. (10093067)
1998
5
2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands. (9713862)
1998
6
Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. (8628473)
1996
7
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. (1407588)
1992
8
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. (1552545)
1992
9
Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia). (1487234)
1992
10
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. (1822787)
1991
11
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. (2220808)
1990

Genetic Variations for Charcot-Marie-Tooth Neuropathy Type 1

Expression for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 1.

Pathways for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

Sources:
38NCBI BioSystems Database
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Pathways related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2GJB1, MPZ, PMP22

Compounds for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

Sources:
45Novoseek
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Compounds related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ganglioside459.7MPZ, PMP22
2dihydroprogesterone459.4MPZ, PMP22

GO Terms for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

Sources:
16Gene Ontology
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Biological processes related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system developmentGO:0074229.5EGR2, PMP22
2synaptic transmissionGO:0072689.3NEFL, MPZ, PMP22

Products for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

  • Antibodies
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  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Neuropathy Type 1

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