CMTX2
MCID: CHR641
MIFTS: 33

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (CMTX2)

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, 2

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Name: Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 57 20 71
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 57 20 13
X-Linked Charcot-Marie-Tooth Disease Type 2 12 20 58
Cmtx2 57 12 58
Charcot-Marie-Tooth Disease X-Linked Recessive 2 12 15
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive 74
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 2 29
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 12
Charcot Marie Tooth Disease X-Linked Recessive 2 20
Cmtx 2 20

Characteristics:

Orphanet epidemiological data:

58
x-linked charcot-marie-tooth disease type 2
Inheritance: X-linked recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
onset in infancy
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
both demyelinating and axonal features
see also cmtx1 and cmt3x

Inheritance:
x-linked recessive


HPO:

31
charcot-marie-tooth disease, x-linked recessive, 2:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110208
OMIM® 57 302801
OMIM Phenotypic Series 57 PS118220
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1844873
Orphanet 58 ORPHA101076
MedGen 41 C1844873
UMLS 71 C1844873

Summaries for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Disease Ontology : 12 A Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xp22.2.

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Recessive, 2, also known as charcot-marie-tooth neuropathy, x-linked recessive, 2, is related to x-linked charcot-marie-tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 is CMTX2 (Charcot-Marie-Tooth Neuropathy, X-Linked 2 (Recessive)). Related phenotypes are areflexia and sensory neuropathy

Wikipedia : 74 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

More information from OMIM: 302801 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Diseases in the Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 family:

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Charcot-Marie-Tooth Disease X-Linked Recessive 4 X-Linked Charcot-Marie-Tooth Disease

Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 x-linked charcot-marie-tooth disease 31.7 PRPS1 GJB1
2 charcot-marie-tooth disease 29.2 PRPS1 MPZ MFN2 LITAF GJB1 EGR2
3 charcot-marie-tooth disease type 5 10.2 PRPS1 DYNC1H1
4 charcot-marie-tooth disease, x-linked recessive, 5 10.2 PRPS1 GJB1
5 charcot-marie-tooth disease, dominant intermediate a 10.1 MPZ GJB1
6 slowed nerve conduction velocity, autosomal dominant 10.1 MPZ GJB1
7 charcot-marie-tooth disease, axonal, type 2w 10.1 MPZ GJB1
8 autoimmune peripheral neuropathy 10.1 MPZ GJB1
9 charcot-marie-tooth disease, axonal, type 2i 10.1 MPZ GJB1
10 charcot-marie-tooth disease, dominant intermediate c 10.1 MPZ GJB1
11 charcot-marie-tooth disease, dominant intermediate e 10.1 MPZ DYNC1H1
12 brachial plexus neuropathy 10.0 MPZ GJB1
13 charcot-marie-tooth disease, type 4b3 10.0 PRPS1 MPZ
14 genetic motor neuron disease 10.0 MPZ MFN2
15 spinal muscular atrophy, distal, autosomal recessive, 2 10.0 MFN2 BSCL2
16 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ MFN2
17 charcot-marie-tooth disease, dominant intermediate b 10.0 MPZ LITAF
18 charcot-marie-tooth disease, type 4j 10.0 MPZ LITAF
19 pupil disease 10.0 MPZ EGR2
20 argyll robertson pupil 9.9 MPZ EGR2
21 charcot-marie-tooth disease x-linked recessive 4 9.9 PRPS1 MPZ GJB1
22 abnormal pupillary function 9.9 MPZ EGR2
23 charcot-marie-tooth disease, type 4b1 9.9 MPZ LITAF
24 charcot-marie-tooth disease, axonal, type 2j 9.9 MPZ EGR2
25 waardenburg syndrome, type 4a 9.9 MPZ GJB1
26 charcot-marie-tooth disease, type 4c 9.9 MPZ LITAF GJB1
27 charcot-marie-tooth disease, axonal, type 2b2 9.9 MPZ MFN2
28 distal hereditary motor neuronopathy type 2 9.9 MPZ BSCL2
29 nerve compression syndrome 9.8 MPZ GJB1
30 hereditary neuropathies 9.8 MPZ MFN2 GJB1
31 hereditary motor and sensory neuropathy, type iic 9.8 MPZ MFN2 GJB1
32 spinal muscular atrophy 9.8 LITAF DYNC1H1 BSCL2
33 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.8 MPZ GJB1 EGR2
34 charcot-marie-tooth disease, axonal, type 2l 9.8 MPZ MFN2 BSCL2
35 spinocerebellar ataxia, autosomal recessive 20 9.8 SMAD9 BSCL2
36 charcot-marie-tooth disease, demyelinating, type 4f 9.7 MPZ LITAF EGR2
37 charcot-marie-tooth disease, demyelinating, type 1f 9.7 MPZ LITAF GJB1 DYNC1H1
38 neuronopathy, distal hereditary motor, type va 9.7 MFN2 BSCL2
39 charcot-marie-tooth disease intermediate type 9.6 MPZ MFN2 LITAF GJB1
40 motor peripheral neuropathy 9.6 MFN2 LITAF DYNC1H1 BSCL2
41 charcot-marie-tooth disease, axonal, type 2b 9.6 MPZ MFN2 LITAF GJB1
42 polyneuropathy 9.6 MPZ MFN2 LITAF GJB1
43 charcot-marie-tooth disease, axonal, type 2d 9.6 MPZ MFN2 GJB1 BSCL2
44 charcot-marie-tooth disease, demyelinating, type 1d 9.6 MPZ LITAF GJB1 EGR2
45 charcot-marie-tooth disease, type 4d 9.6 MPZ LITAF GJB1 EGR2
46 charcot-marie-tooth disease, type 4b2 9.6 MPZ LITAF GJB1 EGR2
47 motor neuron disease 9.6 MPZ MFN2 DYNC1H1 BSCL2
48 charcot-marie-tooth disease, axonal, type 2f 9.4 MPZ MFN2 LITAF GJB1 BSCL2
49 charcot-marie-tooth disease, x-linked dominant, 1 9.3 MPZ MFN2 LITAF GJB1 EGR2
50 charcot-marie-tooth disease, type 4a 9.3 MPZ MFN2 LITAF GJB1 EGR2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:



Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
2 sensory neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000763
3 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
4 distal upper limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007149
5 abnormal nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0040129
6 lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007340
7 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
8 seizure 31 frequent (33%) HP:0001250
9 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
11 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
12 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
13 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
14 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
15 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
16 intellectual disability 31 occasional (7.5%) HP:0001249
17 distal amyotrophy 31 occasional (7.5%) HP:0003693
18 seizures 58 Frequent (79-30%)
19 peripheral neuropathy 58 Very frequent (99-80%)
20 decreased motor nerve conduction velocity 31 HP:0003431
21 steppage gait 31 HP:0003376
22 distal muscle weakness 31 HP:0002460
23 distal sensory impairment 31 HP:0002936
24 upper limb muscle weakness 31 HP:0003484
25 foot dorsiflexor weakness 31 HP:0009027
26 emg: axonal abnormality 31 HP:0003482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Peripheral Nervous System:
areflexia
'steppage' gait
foot drop
distal muscle atrophy due to peripheral neuropathy
distal muscle weakness due to peripheral neuropathy
more
Neurologic Central Nervous System:
mental retardation has been reported

Skeletal Feet:
pes cavus

Clinical features from OMIM®:

302801 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.56 BSCL2 DYNC1H1 EGR2 GJB1 MFN2 MPZ
2 nervous system MP:0003631 9.23 BSCL2 DYNC1H1 EGR2 GJB1 LITAF MFN2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 2 29

Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Publications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Articles related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

# Title Authors PMID Year
1
X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. 57
1557086 1992
2
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 57
1674639 1991
3
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. 61
7870103 1995

Variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Expression for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2.

Pathways for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

GO Terms for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fat cell differentiation GO:0045444 9.16 EGR2 BSCL2
2 myelination GO:0042552 8.96 MPZ EGR2
3 positive regulation of cold-induced thermogenesis GO:0120162 8.8 MFN2 DYNC1H1 BSCL2

Sources for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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