CMTX3
MCID: CHR642
MIFTS: 31

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental 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 57 20 70
X-Linked Charcot-Marie-Tooth Disease Type 3 12 20 58
Cmtx3 57 12 58
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 57 13
Charcot-Marie-Tooth Disease X-Linked Recessive 3 12 15
Cmt3x 12 58
Charcot-Marie-Tooth Disease, X-Linked Type 3, Recessive 73
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 3 29
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3 12
Charcot Marie Tooth Disease X-Linked Recessive 3 20
Cmtx 3 20

Characteristics:

Orphanet epidemiological data:

58
x-linked charcot-marie-tooth disease type 3
Inheritance: X-linked recessive;

OMIM®:

57 (Updated 20-May-2021)
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:

31
charcot-marie-tooth disease, x-linked recessive, 3:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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 neuronopathy, distal hereditary motor, type i. 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 distal lower limb amyotrophy and intellectual disability

Wikipedia : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

More information from OMIM: 302802 PS118220

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

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal lower limb amyotrophy 58 31 hallmark (90%) Frequent (79-30%) HP:0008944
2 intellectual disability 31 hallmark (90%) HP:0001249
3 spasticity 31 hallmark (90%) HP:0001257
4 abnormal pyramidal sign 31 hallmark (90%) HP:0007256
5 muscle weakness 31 hallmark (90%) HP:0001324
6 hearing impairment 31 hallmark (90%) HP:0000365
7 motor axonal neuropathy 31 hallmark (90%) HP:0007002
8 paraparesis 31 hallmark (90%) HP:0002385
9 sensory axonal neuropathy 31 hallmark (90%) HP:0003390
10 scoliosis 58 31 frequent (33%) Occasional (29-5%) HP:0002650
11 kyphosis 31 frequent (33%) HP:0002808
12 impaired pain sensation 31 frequent (33%) HP:0007328
13 gait disturbance 58 31 occasional (7.5%) Frequent (79-30%) HP:0001288
14 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
15 ataxia 31 occasional (7.5%) HP:0001251
16 dysarthria 31 occasional (7.5%) HP:0001260
17 excessive daytime somnolence 31 occasional (7.5%) HP:0001262
18 language impairment 31 occasional (7.5%) HP:0002463
19 hip dysplasia 58 31 Occasional (29-5%) HP:0001385
20 areflexia 58 31 Frequent (79-30%) HP:0001284
21 pes cavus 58 31 Frequent (79-30%) HP:0001761
22 distal amyotrophy 58 31 Frequent (79-30%) HP:0003693
23 foot dorsiflexor weakness 58 31 Frequent (79-30%) HP:0009027
24 decreased nerve conduction velocity 31 HP:0000762
25 proximal muscle weakness in lower limbs 58 Occasional (29-5%)
26 motor delay 58 Frequent (79-30%)
27 abnormality of the foot 58 Frequent (79-30%)
28 hyporeflexia 58 Occasional (29-5%)
29 decreased motor nerve conduction velocity 58 Frequent (79-30%)
30 steppage gait 31 HP:0003376
31 spastic paraparesis 58 Occasional (29-5%)
32 sensory impairment 58 Frequent (79-30%)
33 restrictive ventilatory defect 58 Occasional (29-5%)
34 distal muscle weakness 31 HP:0002460
35 demyelinating peripheral neuropathy 58 Occasional (29-5%)
36 difficulty walking 58 Frequent (79-30%)
37 distal sensory impairment 31 HP:0002936
38 inability to walk 58 Occasional (29-5%)
39 upper limb muscle weakness 31 HP:0003484
40 peripheral axonal neuropathy 58 Occasional (29-5%)
41 intrinsic hand muscle atrophy 58 Frequent (79-30%)
42 distal upper limb amyotrophy 58 Occasional (29-5%)
43 sensorimotor neuropathy 58 Frequent (79-30%)
44 hand muscle weakness 58 Frequent (79-30%)
45 equinovarus deformity 58 Frequent (79-30%)
46 pes valgus 58 Occasional (29-5%)
47 emg: axonal abnormality 31 HP:0003482
48 progressive distal muscle weakness 58 Frequent (79-30%)
49 delayed ability to walk 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

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
Skeletal Pelvis:
hip dysplasia

Skeletal Feet:
pes cavus
equinovarus foot deformity

Clinical features from OMIM®:

302802 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 8.92 GJB1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 8.92 GJB1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 8.92 GJB1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 8.92 GJB1

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 29

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

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

40
Eye

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

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

(show all 11)
# Title Authors PMID Year
1
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. 57 61
29626178 2018
2
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. 61 57
27438001 2016
3
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 61 57
23553728 2013
4
Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. 61 57
18458969 2008
5
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. 57 61
17159110 2006
6
X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. 57
1557086 1992
7
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 57
1674639 1991
8
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 61
30476010 2018
9
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. 61
29573232 2018
10
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. 61
20225027 2009
11
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. 61
7870103 1995

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

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

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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