MCID: CHR120
MIFTS: 17

Charcot-Marie-Tooth Neuropathy X Type 1

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 71
Cmt1x 24

Characteristics:

GeneReviews:

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

Classifications:



External Ids:

UMLS 71 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 charcot-marie-tooth disease, x-linked dominant, 1 and sensory peripheral neuropathy, and has symptoms including tremor, paraparesis and numbness. An important gene associated with Charcot-Marie-Tooth Neuropathy X Type 1 is GJB1 (Gap Junction Protein Beta 1). Affiliated tissues include brain.

GeneReviews: NBK1374

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

Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5

Diseases related to Charcot-Marie-Tooth Neuropathy X Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked dominant, 1 12.1
2 sensory peripheral neuropathy 10.5
3 neuropathy 10.5
4 x-linked charcot-marie-tooth disease 10.5
5 branchiootic syndrome 1 10.4
6 charcot-marie-tooth disease 10.4
7 tooth disease 10.4
8 peripheral nervous system disease 10.4
9 foot drop 10.4
10 ataxia and polyneuropathy, adult-onset 10.1
11 polyneuropathy 10.1
12 demyelinating polyneuropathy 10.1

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

Search Clinical Trials , 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

MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy X Type 1:

40
Brain

Publications for Charcot-Marie-Tooth Neuropathy X Type 1

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

(show top 50) (show all 75)
# Title Authors PMID Year
1
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. 24
27438001 2016
2
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. 24
25370202 2015
3
Contribution of copy number variations in CMT1X: a retrospective study. 24
24724718 2015
4
Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease. 24
24170412 2014
5
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman. 24
23912496 2013
6
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. 24
23297365 2013
7
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. 24
23217327 2012
8
Phenotype expression in women with CMT1X. 24
21692908 2011
9
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 24
20170900 2010
10
Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects. 24
19369543 2009
11
Persistent CNS dysfunction in a boy with CMT1X. 24
19193385 2009
12
-459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy. 24
19335535 2009
13
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. 24
19153371 2009
14
Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation. 24
18717720 2008
15
A V139M mutation also causes the reversible CNS phenotype in CMTX. 24
18714809 2008
16
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation. 24
18358413 2008
17
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. 24
18379723 2008
18
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). 24
17701900 2007
19
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease. 24
17620124 2007
20
CMT1X phenotypes represent loss of GJB1 gene function. 24
17353473 2007
21
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter. 24
17603245 2007
22
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. 24
17159110 2006
23
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. 24
17100997 2006
24
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset. 24
17052905 2006
25
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities. 24
16688595 2006
26
Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease. 24
16442804 2006
27
New mutation of gap junction protein beta1 (GJB1) gene in X-linked hereditary motor and sensory neuropathy. 24
16519791 2006
28
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability. 24
16096811 2006
29
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. 24
16775379 2006
30
X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. 24
16301507 2005
31
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. 24
15947997 2005
32
A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. 24
15955956 2005
33
Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. 24
16051098 2005
34
Connexin-based gap junction hemichannels: gating mechanisms. 24
15955306 2005
35
Severe neuropathy with leaky connexin32 hemichannels. 24
15852376 2005
36
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. 24
15470753 2004
37
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. 24
15006706 2004
38
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. 24
14663027 2003
39
Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X. 24
14680548 2003
40
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. 24
12707076 2003
41
Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease. 24
12542510 2003
42
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. 24
12477701 2003
43
Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. 24
12499506 2002
44
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 24
12207932 2002
45
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. 24
12325071 2002
46
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. 24
12185164 2002
47
Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment. 24
12297581 2002
48
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. 24
11891346 2002
49
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 24
11835375 2002
50
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. 24
11723288 2001

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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