MCID: CHR316
MIFTS: 26

Charcot-Marie-Tooth Neuropathy X

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy X

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

Name: Charcot-Marie-Tooth Neuropathy X 24 29
Hereditary Motor and Sensory Neuropathy X-Linked 24
Charcot-Marie-Tooth Disease, X-Linked, 1 69
X-Linked Charcot-Marie-Tooth Disease 24
Cmtx 24

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy X

MalaCards based summary : Charcot-Marie-Tooth Neuropathy X, also known as hereditary motor and sensory neuropathy x-linked, is related to x-linked charcot-marie-tooth disease and charcot-marie-tooth neuropathy x type 5, and has symptoms including numbness, tremor and paraparesis. An important gene associated with Charcot-Marie-Tooth Neuropathy X is GJB1 (Gap Junction Protein Beta 1). The drugs 4-des-dimethylaminotetracycline and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include testes.

Related Diseases for Charcot-Marie-Tooth Neuropathy X

Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
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 Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 2g Charcot-Marie-Tooth Neuropathy Type 2h/2k
Charcot-Marie-Tooth Neuropathy Type 2i/2j Charcot-Marie-Tooth Neuropathy Type 2l
Charcot-Marie-Tooth Neuropathy Type 2n Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 4b3 Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy X Type 2 Charcot-Marie-Tooth Neuropathy X Type 3
Charcot-Marie-Tooth Neuropathy X Type 4 Charcot-Marie-Tooth Neuropathy X Type 6
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

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

(show all 23)
id Related Disease Score Top Affiliating Genes
1 x-linked charcot-marie-tooth disease 12.5
2 charcot-marie-tooth neuropathy x type 5 12.5
3 charcot-marie-tooth neuropathy x type 1 12.4
4 charcot-marie-tooth neuropathy, x-linked dominant, 1 12.4
5 charcot-marie-tooth neuropathy, x-linked recessive, 2 12.3
6 charcot-marie-tooth neuropathy, x-linked recessive, 3 12.3
7 charcot-marie-tooth neuropathy x type 2 12.3
8 charcot-marie-tooth neuropathy x type 3 12.3
9 charcot-marie-tooth neuropathy x type 4 12.3
10 charcot-marie-tooth neuropathy x type 6 12.3
11 prps1-related charcot-marie-tooth neuropathy x type 5 12.3
12 charcot-marie-tooth disease, x-linked dominant, 6 11.5
13 charcot-marie-tooth disease, x-linked recessive, 5 11.5
14 charcot-marie-tooth neuropathy 10.5
15 neuropathy 10.4
16 woods-black-norbury syndrome 9.6 CMTX3 GJB1
17 olmsted syndrome, x-linked 9.5 CMTX2 GJB1
18 deafness, x-linked 1 9.5 GJB1 PRPS1
19 childhood-onset cerebral x-linked adrenoleukodystrophy 9.5 GJB1 PRPS1
20 lowe syndrome 9.4 GJB1 PRPS1
21 amnestic disorder 9.2 GJB1 PRPS1
22 x-linked dystonia-parkinsonism/lubag 9.1 CMTX3 GJB1 PRPS1
23 chitotriosidase deficiency 8.5 CMTX2 CMTX3 GJB1 PRPS1

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



Diseases related to Charcot-Marie-Tooth Neuropathy X

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy X

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


numbness, tremor, paraparesis, monoparesis

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy X

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

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-des-dimethylaminotetracycline Phase 2
2 Pharmaceutical Solutions Phase 2
3
Epinephrine Approved, Vet_approved 51-43-4 5816
4
Lidocaine Approved, Vet_approved 137-58-6 3676
5 Racepinephrine Approved
6 Adrenergic Agents
7 Adrenergic Agonists
8 Adrenergic alpha-Agonists
9 Adrenergic beta-Agonists
10 Anesthetics
11 Anti-Asthmatic Agents
12 Autonomic Agents
13 Bronchodilator Agents
14 Central Nervous System Depressants
15 Epinephryl borate
16 Mydriatics
17 Neurotransmitter Agents
18 Peripheral Nervous System Agents
19 Respiratory System Agents
20 Vasoconstrictor Agents
21 Calamus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2 ACE-083
2 Diagnosis of Carpal Tunnel Syndrome: Effectiveness of Diagnostic Tests. Clinical Trial of Accuracy Completed NCT02553811
3 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
4 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Surgical Treatment of Carpal Tunnel Syndrome: Local Anesthesia With Epinephrine x Intravenous Regional Anesthesia. Recruiting NCT02986347
7 Local Effects of Acupuncture and Nerve Conduction Studies Recruiting NCT03036657

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

Genetic Tests for Charcot-Marie-Tooth Neuropathy X

Genetic tests related to Charcot-Marie-Tooth Neuropathy X:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy X 29 24 PRPS1

Anatomical Context for Charcot-Marie-Tooth Neuropathy X

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

39
Testes

Publications for Charcot-Marie-Tooth Neuropathy X

Articles related to Charcot-Marie-Tooth Neuropathy X:

id 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
3
Charcot-Marie-Tooth Neuropathy X Type 5 ( 20301731 )
1993

Variations for Charcot-Marie-Tooth Neuropathy X

ClinVar genetic disease variations for Charcot-Marie-Tooth Neuropathy X:

6 (show all 48)
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.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs786204095 GRCh38 Chromosome X, 71223823: 71223823
36 GJB1 NM_000166.5(GJB1): c.425G> A (p.Arg142Gln) single nucleotide variant Pathogenic rs786204123 GRCh38 Chromosome X, 71224132: 71224132
37 GJB1 NM_000166.5(GJB1): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs863224472 GRCh37 Chromosome X, 70443566: 70443566
38 GJB1 NM_000166.5(GJB1): c.83T> A (p.Ile28Asn) single nucleotide variant Pathogenic rs768834663 GRCh38 Chromosome X, 71223790: 71223790
39 GJB1 NM_000166.5(GJB1): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs779696968 GRCh37 Chromosome X, 70443862: 70443862
40 GJB1 NM_000166.5(GJB1): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic rs863224471 GRCh38 Chromosome X, 71224254: 71224254
41 GJB1 NM_000166.5(GJB1): c.-103C> T single nucleotide variant Pathogenic rs863224971 GRCh38 Chromosome X, 71223249: 71223249
42 GJB1 NM_000166.5(GJB1): c.44G> A (p.Arg15Gln) single nucleotide variant Pathogenic rs863224974 GRCh37 Chromosome X, 70443601: 70443601
43 GJB1 NM_001097642.2(GJB1): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs863224972 GRCh37 Chromosome X, 70443781: 70443781
44 GJB1 NM_001097642.2(GJB1): c.319C> T (p.Arg107Trp) single nucleotide variant Pathogenic rs863224973 GRCh37 Chromosome X, 70443876: 70443876
45 GJB1 NM_000166.5(GJB1): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs139643362 GRCh38 Chromosome X, 71224197: 71224197
46 GJB1 NM_000166.5(GJB1): c.65G> A (p.Arg22Gln) single nucleotide variant Pathogenic rs1060501002 GRCh38 Chromosome X, 71223772: 71223772
47 GJB1 NM_000166.5(GJB1): c.101T> C (p.Met34Thr) single nucleotide variant Pathogenic rs1060500998 GRCh38 Chromosome X, 71223808: 71223808
48 GJB1 NM_000166.5(GJB1): c.343dupC (p.Leu115Profs) duplication Pathogenic GRCh38 Chromosome X, 71224050: 71224050

Expression for Charcot-Marie-Tooth Neuropathy X

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

Pathways for Charcot-Marie-Tooth Neuropathy X

GO Terms for Charcot-Marie-Tooth Neuropathy X

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

id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.62 GJB1 PRPS1

Sources for Charcot-Marie-Tooth Neuropathy X

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7 CNVD
9 Cosmic
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16 ExPASy
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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