MCID: CHR289
MIFTS: 29

Charcot-Marie-Tooth Neuropathy Type 1a malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Ear diseases, Fetal diseases, Mental diseases, Metabolic diseases categories
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Summaries for Charcot-Marie-Tooth Neuropathy Type 1a

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MalaCards based summary: Charcot-Marie-Tooth Neuropathy Type 1a, also known as charcot-marie-tooth neuropathy, type 1a, is related to neuropathy and duchenne muscular dystrophy. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1a is PMP22 (peripheral myelin protein 22), and among its related pathways is Neural Crest Differentiation. The compounds dihydroprogesterone and ganglioside have been mentioned in the context of this disorder.

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

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Sources:
20GeneTests, 44Novoseek
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Charcot-Marie-Tooth Neuropathy Type 1a, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Neuropathy Type 1a 20
 
Charcot-Marie-Tooth Neuropathy, Type 1a 44


Classifications:



Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1a

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

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.5PMP22, MPZ
2duchenne muscular dystrophy10.5
3muscular dystrophy10.5
4hereditary neuropathy with liability to pressure palsies10.3PMP22
5polyradiculoneuropathy10.2PMP22
6pelizaeus-merzbacher disease10.2MPZ
7neuropathy, recurrent, with pressure palsies10.1CMT1A, PMP22
8charcot-marie-tooth disease type 110.1CMT1A, PMP22
9charcot-marie-tooth disease type 1a10.1PMP22, CMT1A
10neuropathy, inflammatory demyelinating10.1PMP22, CMT1A
11charcot-marie-tooth neuropathy type 110.0PMP22, MPZ
12charcot-marie-tooth disease10.0MPZ, PMP22
13charcot-marie-tooth disease type 410.0MPZ, PMP22
14charcot-marie-tooth disease type 310.0MPZ, PMP22
15inherited peripheral neuropathy10.0PMP22, MPZ
16chronic inflammatory demyelinating polyneuropathy10.0PMP22, MPZ
17brachial plexus neuropathy10.0PMP22, MPZ
18tooth disease9.9MPZ, PMP22
19hereditary neuropathies9.9MPZ, PMP22
20guillain-barre syndrome9.9MPZ, PMP22
21diabetic neuropathy9.9PMP22, MPZ
22neuritis9.9MPZ, PMP22
23sensory peripheral neuropathy9.8PMP22, MPZ
24myopathy9.8PMP22, MPZ
25polyneuropathy9.8MPZ, PMP22
26neurilemmoma9.7MPZ, PMP22

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



Diseases related to charcot-marie-tooth neuropathy type 1a

Symptoms for Charcot-Marie-Tooth Neuropathy Type 1a

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

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Neuropathy Type 1a

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

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 1a

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 1a20 PMP22

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 1a

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

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Publications for Charcot-Marie-Tooth Neuropathy Type 1a

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Articles related to Charcot-Marie-Tooth Neuropathy Type 1a:

(show all 12)
idTitleAuthorsYear
1
Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A. (23891256)
2013
2
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
2007
3
Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A. (16041800)
2005
4
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (10489052)
1999
5
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
6
Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene. (9324088)
1997
7
Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication. (8099303)
1993
8
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. (1461382)
1992
9
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. (1552545)
1992
10
Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication. (1442887)
1992
11
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. (1822787)
1991
12
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. (2707366)
1989

Variations for Charcot-Marie-Tooth Neuropathy Type 1a

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

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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1a

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

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

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Pathways related to Charcot-Marie-Tooth Neuropathy Type 1a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0MPZ, PMP22

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

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Sources:
44Novoseek, 28IUPHAR, 61Tocris Bioscience, 24HMDB, 11DrugBank
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Compounds related to Charcot-Marie-Tooth Neuropathy Type 1a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone449.1MPZ, PMP22
2ganglioside449.0MPZ, PMP22
3progesterone44 28 61 24 1113.0MPZ, PMP22
4dihydrotestosterone44 28 24 1111.9PMP22, MPZ
5aspartate448.7MPZ, PMP22

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

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Biological processes related to Charcot-Marie-Tooth Neuropathy Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:0072689.0MPZ, PMP22

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Charcot-Marie-Tooth Neuropathy Type 1a

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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