MCID: CHR026
MIFTS: 24

Charcot-Marie-Tooth Disease Type X

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

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

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

Name: Charcot-Marie-Tooth Disease Type X 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050542

Summaries for Charcot-Marie-Tooth Disease Type X

Disease Ontology : 12 A Charcot-Marie-Tooth disease that has material basis in X-linked inheritance of a point mutation in the connexin-32 gene.

MalaCards based summary : Charcot-Marie-Tooth Disease Type X is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type X is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Neural Crest Differentiation and Gap junction trafficking. Related phenotype is vision/eye.

Related Diseases for Charcot-Marie-Tooth Disease Type X

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 tooth disease 30.5 GJB1 MPZ PRPS1
2 charcot-marie-tooth disease 29.5 AIFM1 GJB1 MPZ PDK3 PRPS1
3 charcot-marie-tooth disease, x-linked recessive, 5 10.2 GJB1 PRPS1
4 pelizaeus-merzbacher-like disease 10.2 GJB1 GJC2
5 charcot-marie-tooth disease, demyelinating, type 1f 10.1 GJB1 MPZ
6 charcot-marie-tooth disease, axonal, type 2f 10.1 GJB1 MPZ
7 hallermann-streiff syndrome 10.1 GJB1 GJC2
8 charcot-marie-tooth disease, axonal, type 2d 10.1 GJB1 MPZ
9 charcot-marie-tooth disease, demyelinating, type 1c 10.1 GJB1 MPZ
10 charcot-marie-tooth disease, demyelinating, type 1b 10.1 GJB1 MPZ
11 leukodystrophy, hypomyelinating, 2 10.1 GJB1 GJC2
12 charcot-marie-tooth disease, axonal, type 2b 10.1 GJB1 MPZ
13 motor peripheral neuropathy 10.1 GJB1 MPZ
14 charcot-marie-tooth disease, demyelinating, type 1a 10.1 GJB1 MPZ
15 charcot-marie-tooth disease, demyelinating, type 1d 10.0 GJB1 MPZ
16 neuropathy, hereditary, with liability to pressure palsies 10.0 GJB1 MPZ
17 hereditary motor and sensory neuropathy, type iic 10.0 GJB1 MPZ
18 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 GJB1 MPZ
19 cowchock syndrome 10.0 AIFM1 GJB1 PRPS1
20 autoimmune peripheral neuropathy 10.0 GJB1 MPZ
21 hypomyelinating leukodystrophy 10.0 GJB1 GJC2
22 charcot-marie-tooth disease and deafness 9.9 GJB1 MPZ
23 pelizaeus-merzbacher disease 9.9 GJC2 MPZ
24 peripheral nervous system disease 9.9 GJB1 MPZ
25 hypertrophic neuropathy of dejerine-sottas 9.8 GJB1 MPZ
26 neuropathy 9.8 AIFM1 GJB1 MPZ
27 x-linked charcot-marie-tooth disease 9.8 GJB1 PDK3 PRPS1
28 sensory peripheral neuropathy 9.7 GJB1 MPZ
29 charcot-marie-tooth disease, x-linked dominant, 1 9.2 GJB1 GJC2 GJC3 MPZ ZC4H2

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



Diseases related to Charcot-Marie-Tooth Disease Type X

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

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type X:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 AIFM1 GJB1 GJC2 GJC3 PRPS1

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

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type X

Genetic Tests for Charcot-Marie-Tooth Disease Type X

Anatomical Context for Charcot-Marie-Tooth Disease Type X

Publications for Charcot-Marie-Tooth Disease Type X

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

# Title Authors Year
1
Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. ( 9469569 )
1998
2
Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. ( 8889588 )
1996

Variations for Charcot-Marie-Tooth Disease Type X

Expression for Charcot-Marie-Tooth Disease Type X

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

Pathways for Charcot-Marie-Tooth Disease Type X

Pathways related to Charcot-Marie-Tooth Disease Type X according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.96 GJB1 MPZ
2
Show member pathways
10.61 GJB1 GJC2

GO Terms for Charcot-Marie-Tooth Disease Type X

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.56 GJB1 GJC2 GJC3 ZC4H2
2 myelin sheath GO:0043209 9.33 GJC2 GJC3 MPZ
3 gap junction GO:0005921 9.13 GJB1 GJC2 GJC3
4 connexin complex GO:0005922 8.8 GJB1 GJC2 GJC3

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.43 GJB1 PRPS1 ZC4H2
2 response to toxic substance GO:0009636 9.16 AIFM1 GJC2
3 myelination GO:0042552 8.96 GJC3 MPZ
4 cell communication GO:0007154 8.8 GJB1 GJC2 GJC3

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB1 GJC2

Sources for Charcot-Marie-Tooth Disease Type X

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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