MCID: CHR026
MIFTS: 27

Charcot-Marie-Tooth Disease Type X

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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 x-linked charcot-marie-tooth disease and 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 Pentose phosphate pathway. Affiliated tissues include eye and brain, and related phenotypes are Decreased viability and Decreased viability

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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
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 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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 top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 x-linked charcot-marie-tooth disease 30.9 PRPS1 GJB1
2 tooth disease 27.1 SPTLC1 SH3TC2 PRPS1 PMP22 NEFL MTMR2
3 charcot-marie-tooth disease 26.5 SPTLC1 SH3TC2 PRPS1L1 PRPS1 PMP22 NEFL
4 hereditary lymphedema ic 10.3 GJC2 GJB1
5 hallermann-streiff syndrome 10.3 GJC2 GJB1
6 autoimmune peripheral neuropathy 10.3 MPZ GJB1
7 balo concentric sclerosis 10.3 GJC3 GJC2
8 pelizaeus-merzbacher-like disease 10.3 GJC2 GJB1
9 charcot-marie-tooth disease, dominant intermediate a 10.3 MPZ GJB1 GDAP1
10 spastic paraplegia 44, autosomal recessive 10.3 GJC2 GJB1
11 charcot-marie-tooth disease, axonal, type 2w 10.3 MPZ GJB1 GDAP1
12 charcot-marie-tooth disease, dominant intermediate d 10.3 SH3TC2 MPZ
13 charcot-marie-tooth disease, recessive intermediate a 10.2 MFN2 GDAP1
14 asymmetric motor neuropathy 10.2 PMP22 MFN2
15 bart-pumphrey syndrome 10.2 GJC3 GJB1
16 palmoplantar keratoderma and congenital alopecia 1 10.2 GJC3 GJC2 GJB1
17 leukodystrophy, hypomyelinating, 2 10.2 GJC3 GJC2 GJB1
18 glioma 10.2
19 oculodentodigital dysplasia 10.2 GJC3 GJC2 GJB1
20 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 10.2 MFN2 LITAF
21 sciatic neuropathy 10.2 SH3TC2 PMP22
22 mononeuritis of lower limb 10.2 SH3TC2 PMP22
23 charcot-marie-tooth disease, axonal, type 2a1 10.2 MPZ MFN2 GDAP1
24 charcot-marie-tooth disease, x-linked dominant, 6 10.2 PRPS2 PRPS1
25 deafness, x-linked 3 10.2 PRPS1L1 PRPS1 AIFM1
26 amyotrophic neuralgia 10.2 PMP22 MPZ
27 lesion of sciatic nerve 10.2 SH3TC2 PMP22
28 deafness, x-linked 6 10.2 PRPS1L1 PRPS1 AIFM1
29 erythrokeratodermia variabilis et progressiva 1 10.2 GJC3 GJC2 GJB1
30 deafness, x-linked 4 10.2 PRPS1L1 PRPS1 AIFM1
31 brachial plexus neuropathy 10.2 PMP22 MPZ GJB1
32 roussy-levy hereditary areflexic dystasia 10.2 PMP22 MPZ
33 deafness, x-linked 5, with peripheral neuropathy 10.2 PRPS1L1 PRPS1 AIFM1
34 deafness, x-linked 2 10.2 PRPS1L1 PRPS1 AIFM1
35 hypomyelinating leukodystrophy 10.2 GJC2 GJB1 AIFM1
36 charcot-marie-tooth disease, axonal, type 2b1 10.2 MFN2 GDAP1
37 genetic motor neuron disease 10.2 SH3TC2 MPZ MFN2
38 foot drop 10.2 PMP22 MPZ AIFM1
39 phosphoribosylpyrophosphate synthetase superactivity 10.2 PRPS2 PRPS1L1 PRPS1
40 charcot-marie-tooth disease, type 4k 10.2 SH3TC2 LITAF
41 arts syndrome 10.1 PRPS2 PRPS1L1 PRPS1
42 spinal muscular atrophy with lower extremity predominance 10.1 GDAP1 GARS1
43 mononeuropathy 10.1 SH3TC2 PMP22 MPZ
44 nerve compression syndrome 10.1 SH3TC2 PMP22 MPZ
45 pupil disease 10.1 MPZ GDAP1 EGR2
46 charcot-marie-tooth disease x-linked recessive 4 10.1 PRPS1 MPZ GJB1 AIFM1
47 argyll robertson pupil 10.1 MPZ GDAP1 EGR2
48 pelizaeus-merzbacher disease 10.1 PMP22 MPZ GJC2
49 abnormal pupillary function 10.1 MPZ GDAP1 EGR2
50 charcot-marie-tooth disease, axonal, type 2u 10.1 GJB1 GARS1

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

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.7 GJB1
2 Decreased viability GR00055-A-2 9.7 GJB1
3 Decreased viability GR00221-A-1 9.7 PRPS1 PRPS2
4 Decreased viability GR00221-A-2 9.7 PRPS2
5 Decreased viability GR00221-A-3 9.7 PRPS2
6 Decreased viability GR00221-A-4 9.7 PRPS2
7 Decreased viability GR00249-S 9.7 GJB1 MPZ SH3TC2
8 Decreased viability GR00381-A-1 9.7 AIFM1 MPZ SH3TC2
9 Decreased viability GR00381-A-3 9.7 MPZ
10 Decreased viability GR00386-A-1 9.7 EGR2 GJC3 MPZ NEFL SPTLC1
11 Decreased viability GR00402-S-2 9.7 GARS1 GJB1 MPZ MTMR2 PRPS1L1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 AIFM1 EGR2 GARS1 GDAP1 GJB1 GJC2
2 cellular MP:0005384 9.85 AIFM1 EGR2 GDAP1 GJB1 GJC2 LITAF
3 mortality/aging MP:0010768 9.77 AIFM1 EGR2 GARS1 GJB1 GJC2 MFN2
4 nervous system MP:0003631 9.5 AIFM1 EGR2 GARS1 GDAP1 GJB1 GJC2

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

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

40
Eye, Brain

Publications for Charcot-Marie-Tooth Disease Type X

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

# Title Authors PMID Year
1
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation. 61
18358413 2008
2
Estimating contraction level using root mean square amplitude in control subjects and patients with neuromuscular disorders. 61
18374002 2008
3
Sonography of the median nerve in Charcot-Marie-Tooth disease. 61
12034637 2002
4
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. 61
9469569 1998
5
Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. 61
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

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 gap junction GO:0005921 9.33 GJC3 GJC2 GJB1
2 connexin complex GO:0005922 9.13 GJC3 GJC2 GJB1
3 ribose phosphate diphosphokinase complex GO:0002189 8.8 PRPS2 PRPS1L1 PRPS1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to toxic substance GO:0009636 9.63 NEFL GJC2 AIFM1
2 cell communication GO:0007154 9.58 GJC3 GJC2 GJB1
3 nucleoside metabolic process GO:0009116 9.54 PRPS2 PRPS1L1 PRPS1
4 purine nucleotide biosynthetic process GO:0006164 9.5 PRPS2 PRPS1L1 PRPS1
5 peripheral nervous system development GO:0007422 9.49 PMP22 EGR2
6 mitochondrial fusion GO:0008053 9.48 MFN2 GDAP1
7 myelin assembly GO:0032288 9.43 PMP22 MTMR2
8 nucleotide biosynthetic process GO:0009165 9.43 PRPS2 PRPS1L1 PRPS1
9 ribonucleoside monophosphate biosynthetic process GO:0009156 9.33 PRPS2 PRPS1L1 PRPS1
10 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.13 PRPS2 PRPS1L1 PRPS1
11 cellular biosynthetic process GO:0044249 8.8 PRPS2 PRPS1L1 PRPS1

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 9.13 GJC3 GJC2 GJB1
2 ribose phosphate diphosphokinase activity GO:0004749 8.8 PRPS2 PRPS1L1 PRPS1

Sources for Charcot-Marie-Tooth Disease Type X

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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