MCID: XLN110
MIFTS: 40

X-Linked Charcot-Marie-Tooth Disease

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Ear diseases, Fetal diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for X-Linked Charcot-Marie-Tooth Disease

MalaCards integrated aliases for X-Linked Charcot-Marie-Tooth Disease:

Name: X-Linked Charcot-Marie-Tooth Disease 50
X-Linked Hereditary Motor and Sensory Neuropathy 50 29
Charcot-Marie-Tooth Disease, X-Linked, 1 69
Cmtx 50

Classifications:



Summaries for X-Linked Charcot-Marie-Tooth Disease

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on charcot-marie-tooth disease.

MalaCards based summary : X-Linked Charcot-Marie-Tooth Disease, also known as x-linked hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, x-linked recessive, 5 and charcot-marie-tooth disease, x-linked dominant, 6, and has symptoms including numbness, tremor and paraparesis. An important gene associated with X-Linked Charcot-Marie-Tooth Disease is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Gap junction trafficking and Transport of connexins along the secretory pathway. The drugs Bile Acids and Salts and Cholic Acids have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotype is Decreased viability.

Related Diseases for X-Linked Charcot-Marie-Tooth Disease

Graphical network of the top 20 diseases related to X-Linked Charcot-Marie-Tooth Disease:



Diseases related to X-Linked Charcot-Marie-Tooth Disease

Symptoms & Phenotypes for X-Linked Charcot-Marie-Tooth Disease

UMLS symptoms related to X-Linked Charcot-Marie-Tooth Disease:


numbness, tremor, paraparesis, monoparesis

GenomeRNAi Phenotypes related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 8.62 GJB1 PDK3

Drugs & Therapeutics for X-Linked Charcot-Marie-Tooth Disease

Drugs for X-Linked Charcot-Marie-Tooth Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 3
2 Cholic Acids Phase 3
3 Gastrointestinal Agents Phase 3
4 Liver Extracts Phase 3
5
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
rituximab Approved Phase 2 174722-31-7 10201696
11 Thiotepa Approved Phase 2 52-24-4 5453
12 Tocopherol Approved, Nutraceutical Phase 2
13
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
14 Alkylating Agents Phase 2
15 Antilymphocyte Serum Phase 2
16 Antimetabolites Phase 2
17 Antimetabolites, Antineoplastic Phase 2
18 Immunosuppressive Agents Phase 2
19 N-monoacetylcystine Phase 2
20 Thioctic Acid Phase 2
21 Tocopherols Phase 2
22 Tocotrienols Phase 2
23 Vitamins Phase 2
24 Alpha-lipoic Acid Nutraceutical Phase 2
25 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
26
chenodeoxycholic acid Approved 474-25-9 10133
27
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
28 Cathartics
29 Laxatives

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
3 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
6 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
7 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for X-Linked Charcot-Marie-Tooth Disease

Genetic Tests for X-Linked Charcot-Marie-Tooth Disease

Genetic tests related to X-Linked Charcot-Marie-Tooth Disease:

id Genetic test Affiliating Genes
1 X-Linked Hereditary Motor and Sensory Neuropathy 29

Anatomical Context for X-Linked Charcot-Marie-Tooth Disease

MalaCards organs/tissues related to X-Linked Charcot-Marie-Tooth Disease:

39
Liver, Brain

Publications for X-Linked Charcot-Marie-Tooth Disease

Articles related to X-Linked Charcot-Marie-Tooth Disease:

(show top 50) (show all 77)
id Title Authors Year
1
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. ( 28097225 )
2017
2
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). ( 28768847 )
2017
3
Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis. ( 28797703 )
2017
4
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. ( 28448691 )
2017
5
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. ( 26801680 )
2016
6
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients. ( 27098783 )
2016
7
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease. ( 27585976 )
2016
8
Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement. ( 25883816 )
2015
9
Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease. ( 26010264 )
2015
10
A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease. ( 25595958 )
2015
11
A Review of X-linked Charcot-Marie-Tooth Disease. ( 26385972 )
2015
12
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. ( 24528855 )
2014
13
X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients. ( 23649551 )
2014
14
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement. ( 24768312 )
2014
15
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. ( 25370202 )
2014
16
Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report. ( 25086786 )
2014
17
Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease. ( 25043634 )
2014
18
The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease: A Transient Disorder of Children and Young Adults. ( 23400245 )
2013
19
Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease. ( 22341131 )
2012
20
Inflammatory demyelinating CNS disorder in a case of X-linked Charcot-Marie-Tooth disease: positive response to natalizumab. ( 22411047 )
2012
21
X inactivation in females with X-linked Charcot-Marie-Tooth disease. ( 22483671 )
2012
22
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? ( 22771394 )
2012
23
X-linked Charcot-Marie-Tooth disease. ( 23279425 )
2012
24
Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease. ( 21900630 )
2011
25
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. ( 21282593 )
2011
26
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. ( 21504505 )
2011
27
A novel mutation of gap junction protein I^ 1 gene in X-linked Charcot-Marie-Tooth disease. ( 21607969 )
2011
28
MRI findings in X-linked Charcot-Marie-Tooth disease associated with a novel connexin 32 mutation. ( 21300330 )
2011
29
A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease. ( 20857133 )
2011
30
X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation. ( 20626781 )
2010
31
Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. ( 20472869 )
2010
32
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family. ( 21104867 )
2010
33
Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation. ( 20942588 )
2010
34
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. ( 20532933 )
2010
35
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. ( 20193560 )
2009
36
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. ( 18379723 )
2008
37
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation. ( 18358413 )
2008
38
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease. ( 17620124 )
2007
39
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter. ( 17603245 )
2007
40
[The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease]. ( 17646144 )
2007
41
X-linked Charcot-Marie-Tooth disease and multiple sclerosis. ( 17468966 )
2007
42
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability. ( 16096811 )
2006
43
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. ( 17159110 )
2006
44
Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease. ( 16442804 )
2006
45
X-linked Charcot-Marie-Tooth disease with transient splenium lesion on MRI. ( 16467604 )
2006
46
Molecular genetics of X-linked Charcot-Marie-Tooth disease. ( 16775370 )
2006
47
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. ( 17100997 )
2006
48
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities. ( 16688595 )
2006
49
X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. ( 16301507 )
2005
50
Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. ( 16051098 )
2005

Variations for X-Linked Charcot-Marie-Tooth Disease

ClinVar genetic disease variations for X-Linked Charcot-Marie-Tooth Disease:

6 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB1 NM_000166.5(GJB1): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs104894810 GRCh37 Chromosome X, 70443981: 70443981
2 GJB1 NM_001097642.2(GJB1): c.514C> T (p.Pro172Ser) single nucleotide variant Pathogenic rs104894811 GRCh37 Chromosome X, 70444071: 70444071
3 GJB1 NM_000166.5(GJB1): c.415G> A (p.Val139Met) single nucleotide variant Pathogenic rs104894812 GRCh37 Chromosome X, 70443972: 70443972
4 GJB1 NM_001097642.2(GJB1): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs104894813 GRCh37 Chromosome X, 70443954: 70443954
5 GJB1 NM_000166.5(GJB1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs104894814 GRCh37 Chromosome X, 70444215: 70444215
6 GJB1 NM_001097642.2(GJB1): c.89T> A (p.Ile30Asn) single nucleotide variant Pathogenic rs104894817 GRCh37 Chromosome X, 70443646: 70443646
7 GJB1 NM_000166.5(GJB1): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894818 GRCh37 Chromosome X, 70444024: 70444024
8 GJB1 NM_001097642.2(GJB1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs104894819 GRCh37 Chromosome X, 70443751: 70443751
9 GJB1 NM_001097642.2(GJB1): c.37G> T (p.Val13Leu) single nucleotide variant Pathogenic rs104894820 GRCh37 Chromosome X, 70443594: 70443594
10 GJB1 GJB1, 1-BP DEL deletion Pathogenic
11 GJB1 NM_000166.5(GJB1): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic rs104894821 GRCh37 Chromosome X, 70443840: 70443840
12 GJB1 NM_000166.5(GJB1): c.614A> G (p.Asn205Ser) single nucleotide variant Pathogenic rs104894822 GRCh37 Chromosome X, 70444171: 70444171
13 GJB1 GJB1, 367G-T single nucleotide variant Pathogenic
14 GJB1 NM_001097642.2(GJB1): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic rs104894823 GRCh37 Chromosome X, 70443811: 70443811
15 GJB1 GJB1, -528T-G single nucleotide variant Pathogenic
16 GJB1 NM_000166.5(GJB1): c.164C> T (p.Thr55Ile) single nucleotide variant Pathogenic rs104894824 GRCh37 Chromosome X, 70443721: 70443721
17 GJB1 GJB1, 21-BP DUP duplication Pathogenic
18 GJB1 GJB1, 3-BP DEL, 304GAG deletion Pathogenic
19 GJB1 GJB1, -526G-C single nucleotide variant Pathogenic
20 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh37 Chromosome X, 70443964: 70443964
21 GJB1 NM_000166.5(GJB1): c.123G> C (p.Glu41Asp) single nucleotide variant Pathogenic rs116840816 GRCh37 Chromosome X, 70443680: 70443680
22 GJB1 NM_000166.5(GJB1): c.145T> C (p.Ser49Pro) single nucleotide variant Pathogenic rs116840817 GRCh37 Chromosome X, 70443702: 70443702
23 GJB1 NM_000166.5(GJB1): c.187G> A (p.Val63Ile) single nucleotide variant Pathogenic rs116840818 GRCh37 Chromosome X, 70443744: 70443744
24 GJB1 NM_000166.5(GJB1): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs116840819 GRCh37 Chromosome X, 70443780: 70443780
25 GJB1 NM_000166.5(GJB1): c.225delG (p.Leu76Cysfs) deletion Pathogenic rs116840820 GRCh37 Chromosome X, 70443782: 70443782
26 GJB1 NM_000166.5(GJB1): c.43C> T (p.Arg15Trp) single nucleotide variant Pathogenic rs116840815 GRCh37 Chromosome X, 70443600: 70443600
27 GJB1 NM_000166.5(GJB1): c.536G> A (p.Cys179Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs116840822 GRCh37 Chromosome X, 70444093: 70444093
28 GJB1 NM_000166.5(GJB1): c.556G> A (p.Glu186Lys) single nucleotide variant Pathogenic rs116840821 GRCh37 Chromosome X, 70444113: 70444113
29 GJB1 NM_001097642.2(GJB1): c.571_579dupACCGTCTTC (p.Phe193_Met194insThrValPhe) duplication Pathogenic rs116840823 GRCh37 Chromosome X, 70444128: 70444136
30 GJB1 NM_001097642.2(GJB1): c.172C> T (p.Pro58Ser) single nucleotide variant Pathogenic rs483352926 GRCh37 Chromosome X, 70443729: 70443729
31 GJB1 NM_000166.5(GJB1): c.259C> G (p.Pro87Ala) single nucleotide variant Pathogenic rs587777877 GRCh37 Chromosome X, 70443816: 70443816
32 GJB1 NM_000166.5(GJB1): c.580A> G (p.Met194Val) single nucleotide variant Pathogenic rs587777878 GRCh37 Chromosome X, 70444137: 70444137
33 GJB1 NM_000166.5(GJB1): c.77C> T (p.Ser26Leu) single nucleotide variant Pathogenic rs587777876 GRCh38 Chromosome X, 71223784: 71223784
34 GJB1 NM_000166.5(GJB1): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs587777879 GRCh37 Chromosome X, 70444347: 70444347
35 GJB1 NM_000166.5(GJB1): c.-103C> T single nucleotide variant Pathogenic rs863224971 GRCh38 Chromosome X, 71223249: 71223249
36 GJB1 NM_000166.5(GJB1): c.44G> A (p.Arg15Gln) single nucleotide variant Pathogenic rs863224974 GRCh37 Chromosome X, 70443601: 70443601
37 GJB1 NM_001097642.2(GJB1): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs863224972 GRCh37 Chromosome X, 70443781: 70443781
38 GJB1 NM_001097642.2(GJB1): c.319C> T (p.Arg107Trp) single nucleotide variant Pathogenic rs863224973 GRCh37 Chromosome X, 70443876: 70443876
39 GJB1 NM_000166.5(GJB1): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs139643362 GRCh38 Chromosome X, 71224197: 71224197

Expression for X-Linked Charcot-Marie-Tooth Disease

Search GEO for disease gene expression data for X-Linked Charcot-Marie-Tooth Disease.

Pathways for X-Linked Charcot-Marie-Tooth Disease

GO Terms for X-Linked Charcot-Marie-Tooth Disease

Cellular components related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.16 GJB1 GJB2
2 gap junction GO:0005921 8.96 GJB1 GJB2
3 connexin complex GO:0005922 8.62 GJB1 GJB2

Biological processes related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 8.96 GJB1 GJB2
2 gap junction assembly GO:0016264 8.62 GJB1 GJB2

Molecular functions related to X-Linked Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB1 GJB2

Sources for X-Linked Charcot-Marie-Tooth Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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