CMTX1
MCID: CHR120
MIFTS: 15

Charcot-Marie-Tooth Neuropathy X Type 1 (CMTX1)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy X Type 1:

Name: Charcot-Marie-Tooth Neuropathy X Type 1 25
Gjb1-Related Charcot-Marie-Tooth Neuropathy 25
Charcot-Marie-Tooth Disease, X-Linked, 1 74
Cmtx1 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance is complete in males with gjb1 pathogenic variants...

Classifications:



External Ids:

UMLS 74 C0393808

Summaries for Charcot-Marie-Tooth Neuropathy X Type 1

MalaCards based summary : Charcot-Marie-Tooth Neuropathy X Type 1, also known as gjb1-related charcot-marie-tooth neuropathy, is related to x-linked charcot-marie-tooth disease and charcot-marie-tooth disease, x-linked dominant, 1, and has symptoms including tremor, paraparesis and numbness. The drug 4-des-dimethylaminotetracycline has been mentioned in the context of this disorder.

GeneReviews: NBK1374

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

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



Diseases related to Charcot-Marie-Tooth Neuropathy X Type 1

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy X Type 1

UMLS symptoms related to Charcot-Marie-Tooth Neuropathy X Type 1:


tremor, paraparesis, numbness, monoparesis

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

Drugs for Charcot-Marie-Tooth Neuropathy X Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-des-dimethylaminotetracycline

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300

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

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

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

Publications for Charcot-Marie-Tooth Neuropathy X Type 1

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

# Title Authors Year
1
Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1. ( 26955336 )
2015
2
Charcot-Marie-Tooth Neuropathy X Type 1 ( 20301548 )
1993

Variations for Charcot-Marie-Tooth Neuropathy X Type 1

Expression for Charcot-Marie-Tooth Neuropathy X Type 1

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

Pathways for Charcot-Marie-Tooth Neuropathy X Type 1

GO Terms for Charcot-Marie-Tooth Neuropathy X Type 1

Sources for Charcot-Marie-Tooth Neuropathy X Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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