CMTX1
MCID: CHR120
MIFTS: 12

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 24
Gjb1-Related Charcot-Marie-Tooth Neuropathy 24
Charcot-Marie-Tooth Disease, X-Linked, 1 73
Cmtx1 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is complete in males with gjb1 pathogenic variants...

Classifications:



External Ids:

UMLS 73 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
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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