CMTX3
MCID: CHR642
MIFTS: 39

Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 (CMTX3)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

Name: Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 58 54 74
X-Linked Charcot-Marie-Tooth Disease Type 3 12 54 60
Cmtx3 58 12 60
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 58 13
Charcot-Marie-Tooth Disease X-Linked Recessive 3 12 15
Cmt3x 12 60
Charcot-Marie-Tooth Disease, X-Linked Type 3, Recessive 77
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 3 30
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3 12
Charcot Marie Tooth Disease X-Linked Recessive 3 54
Cmtx 3 54

Characteristics:

Orphanet epidemiological data:

60
x-linked charcot-marie-tooth disease type 3
Inheritance: X-linked recessive;

OMIM:

58
Miscellaneous:
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
both demyelinating and axonal features
variable age on onset, from birth to 14 years

Inheritance:
x-linked recessive


HPO:

33
charcot-marie-tooth disease, x-linked recessive, 3:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Disease Ontology : 12 A Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xq26.

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Recessive, 3, also known as x-linked charcot-marie-tooth disease type 3, is related to x-linked charcot-marie-tooth disease and distal hereditary motor neuropathy, type v. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 is CMTX3 (Charcot-Marie-Tooth Neuropathy, X-Linked 3 (Dominant)). Affiliated tissues include eye, and related phenotypes are intellectual disability and spasticity

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

Description from OMIM: 302802

Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Diseases in the X-Linked Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 x-linked charcot-marie-tooth disease 32.9 CMTX3 GJB1
2 distal hereditary motor neuropathy, type v 30.3 BSCL2 GARS
3 cone-rod dystrophy and hearing loss 2 11.1
4 charcot-marie-tooth disease, axonal, type 2d 10.2 GARS GJB1
5 distal hereditary motor neuropathies 10.1 GARS SETX
6 spastic paraplegia 17, autosomal dominant 10.1
7 neuropathy 10.1
8 neuronopathy, distal hereditary motor, type va 10.1 BSCL2 GARS
9 tooth disease 10.0 GARS GJB1 HSPB8
10 charcot-marie-tooth disease, x-linked recessive, 2 9.9 GJB1 SULT2B1
11 charcot-marie-tooth disease, demyelinating, type 1b 9.9 GJB1 SULT2B1
12 charcot-marie-tooth disease, axonal, type 2b 9.9 GJB1 SULT2B1
13 peripheral nervous system disease 9.9 GARS GJB1
14 charcot-marie-tooth disease, demyelinating, type 1d 9.8 GJB1 SULT2B1
15 charcot-marie-tooth disease and deafness 9.8 GJB1 SULT2B1
16 hypertrophic neuropathy of dejerine-sottas 9.8 GJB1 SULT2B1
17 motor neuron disease 9.7 BSCL2 SETX SNCA
18 amyotrophic lateral sclerosis 1 9.5 HSPB8 SETX SNCA
19 charcot-marie-tooth disease, axonal, type 2e 9.4 BSCL2 GARS GJB1 SULT2B1
20 charcot-marie-tooth disease 9.4 BSCL2 GARS GJB1 HSPB8 SETX

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:



Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
4 abnormal pyramidal sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0007256
5 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
6 sensory axonal neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003390
7 paraparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002385
8 distal lower limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008944
9 motor axonal neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007002
10 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
11 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
12 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
13 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
14 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
15 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
16 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
17 language impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002463
18 excessive daytime somnolence 60 33 occasional (7.5%) Occasional (29-5%) HP:0001262
19 sensory neuropathy 60 Very frequent (99-80%)
20 decreased nerve conduction velocity 33 HP:0000762
21 pes cavus 33 HP:0001761
22 areflexia 33 HP:0001284
23 foot dorsiflexor weakness 33 HP:0009027
24 upper limb muscle weakness 33 HP:0003484
25 peripheral axonal neuropathy 60 Very frequent (99-80%)
26 distal muscle weakness 33 HP:0002460
27 steppage gait 33 HP:0003376
28 distal amyotrophy 33 HP:0003693
29 distal sensory impairment 33 HP:0002936
30 emg: axonal abnormality 33 HP:0003482

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
equinovarus foot deformity

Skeletal Pelvis:
hip dysplasia

Neurologic Peripheral Nervous System:
areflexia
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
'steppage' gait
foot drop
more

Clinical features from OMIM:

302802

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 ATP7A BSCL2 GJB1 HSPB8 SETX SNCA
2 homeostasis/metabolism MP:0005376 9.5 ATP7A BSCL2 GJB1 HSPB8 SETX SNCA
3 immune system MP:0005387 9.1 ATP7A BSCL2 GJB1 HSPB8 SETX SNCA

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 3 30

Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

42
Eye

Publications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Articles related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

# Title Authors Year
1
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. ( 29626178 )
2018
2
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. ( 27438001 )
2016
3
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. ( 23553728 )
2013
4
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. ( 20225027 )
2009
5
Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. ( 18458969 )
2008

Variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Expression for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3.

Pathways for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

GO Terms for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Cellular components related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.8 GARS SETX SNCA

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.26 SETX SNCA
2 cellular response to fibroblast growth factor stimulus GO:0044344 9.16 SETX SNCA
3 cellular response to copper ion GO:0071280 8.96 ATP7A SNCA
4 dopamine metabolic process GO:0042417 8.62 ATP7A SNCA

Molecular functions related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.46 GARS HSPB8 SETX SNCA
2 copper ion binding GO:0005507 8.96 ATP7A SNCA
3 cuprous ion binding GO:1903136 8.62 ATP7A SNCA

Sources for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

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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