CMTX2
MCID: CHR641
MIFTS: 38

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
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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 12 43 71
Charcot-Marie-Tooth Disease X-Linked Recessive 2 11 28 14
Cmtx2 57 11 58
X-Linked Charcot-Marie-Tooth Disease Type 2 11 58
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive 75
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 57
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 11

Characteristics:


Inheritance:

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2: X-linked recessive 57
X-Linked Charcot-Marie-Tooth Disease Type 2: X-linked recessive 58

Prevelance:

X-Linked Charcot-Marie-Tooth Disease Type 2: <1/1000000 (Worldwide) 58

Age Of Onset:

X-Linked Charcot-Marie-Tooth Disease Type 2: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

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


External Ids:

Disease Ontology 11 DOID:0110208
OMIM® 57 302801
OMIM Phenotypic Series 57 PS118220
MeSH 43 C535302
ICD10 31 G60.0
ICD10 via Orphanet 32 G60.0
UMLS via Orphanet 72 C1844873
Orphanet 58 ORPHA101076
MedGen 40 C1844873
UMLS 71 C1844873

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

Orphanet: 58 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.

MalaCards based summary: Charcot-Marie-Tooth Disease, X-Linked Recessive, 2, also known as charcot-marie-tooth disease x-linked recessive 2, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, x-linked recessive, 5. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 is CMTX2 (Charcot-Marie-Tooth Neuropathy, X-Linked 2 (Recessive)), and among its related pathways/superpathways are Defective EXT2 causes exostoses 2 and EGR2 and SOX10-mediated initiation of Schwann cell myelination. Related phenotypes are areflexia and pes cavus

Disease Ontology: 11 A Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xp22.2.

Wikipedia: 75 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

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 82)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.6 PRPS1 MPZ LITAF GJB1 EGR2 DYNC1H1
2 charcot-marie-tooth disease, x-linked recessive, 5 10.2 PRPS1 GJB1
3 charcot-marie-tooth disease, axonal, type 2q 10.2 GJB1 DYNC1H1
4 neuronopathy, distal hereditary motor, type iic 10.1 LITAF DYNC1H1
5 hereditary multiple osteochondromas 10.1 EXT2 EXT1
6 charcot-marie-tooth disease dominant intermediate a 10.1 MPZ GJB1
7 osteochondroma 10.1 EXT2 EXT1
8 ankylosing spondylitis 3 10.1 EXT2 EXT1
9 exostoses, multiple, type i 10.1 EXT2 EXT1
10 periosteal osteogenic sarcoma 10.1 EXT2 EXT1
11 periosteal chondrosarcoma 10.1 EXT2 EXT1
12 juxtacortical chondroma 10.1 EXT2 EXT1
13 charcot-marie-tooth disease, dominant intermediate d 10.1 MPZ GJB1
14 charcot-marie-tooth disease, x-linked recessive, 3 10.1 EXT2 EXT1
15 neuromyotonia and axonal neuropathy, autosomal recessive 10.0 MPZ GJB1
16 hereditary neuropathies 10.0 MPZ GJB1
17 peroneal neuropathy 10.0 MPZ LITAF
18 autosomal dominant distal hereditary motor neuronopathy 10.0 DYNC1H1 BSCL2
19 charcot-marie-tooth disease, axonal, type 2i 10.0 MPZ GJB1
20 charcot-marie-tooth disease, dominant intermediate c 10.0 MPZ GJB1
21 charcot-marie-tooth disease intermediate type 10.0 MPZ GJB1
22 brachial plexus neuropathy 10.0 MPZ GJB1
23 mononeuropathy 10.0 MPZ GJB1
24 metachondromatosis 10.0 EXT2 EXT1
25 hereditary motor and sensory neuropathy, type iic 10.0 MPZ GJB1
26 charcot-marie-tooth disease, axonal, type 2p 10.0 MPZ LITAF
27 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ DYNC1H1
28 multiple enchondromatosis, maffucci type 10.0 EXT2 EXT1
29 hereditary multiple exostoses 10.0 EXT2 EXT1
30 charcot-marie-tooth disease, type 4b1 10.0 MPZ LITAF
31 exostosis 10.0 EXT2 EXT1
32 charcot-marie-tooth disease, type 4b3 10.0 MPZ LITAF
33 trichorhinophalangeal syndrome, type ii 9.9 EXT2 EXT1
34 charcot-marie-tooth disease, axonal, type 2l 9.9 MPZ BSCL2
35 enchondromatosis, multiple, ollier type 9.9 EXT2 EXT1
36 waardenburg syndrome, type 4a 9.9 MPZ GJB1
37 charcot-marie-tooth disease x-linked recessive 4 9.9 PRPS1 MPZ GJB1
38 charcot-marie-tooth disease type 1g 9.9 MPZ LITAF GJB1
39 neuropathy, hereditary sensory and autonomic, type ic 9.9 MPZ LITAF GJB1
40 charcot-marie-tooth disease, dominant intermediate b 9.9 MPZ LITAF GJB1
41 charcot-marie-tooth disease, type 4j 9.9 MPZ LITAF GJB1
42 charcot-marie-tooth disease, axonal, type 2b 9.9 MPZ LITAF GJB1
43 larsen syndrome 9.9 EXT2 EXT1
44 neuropathy, hereditary sensory and autonomic, type iia 9.9 SMAD9 LITAF BSCL2
45 charcot-marie-tooth disease, axonal, type 2d 9.8 MPZ GJB1 BSCL2
46 friedreich ataxia 9.8 MPZ LITAF GJB1
47 argyll robertson pupil 9.8 MPZ EGR2
48 abnormal pupillary function 9.8 MPZ EGR2
49 distal hereditary motor neuronopathy type 2 9.8 MPZ BSCL2
50 spastic paraplegia 10, autosomal dominant 9.7 DYNC1H1 BSCL2

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 30 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 areflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001284
2 pes cavus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001761
3 decreased motor nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0003431
4 steppage gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0003376
5 foot dorsiflexor weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0009027
6 distal sensory impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002936
7 intrinsic hand muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008954
8 hand tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002378
9 hand muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0030237
10 emg: chronic denervation signs 58 30 Frequent (33%) Frequent (79-30%)
HP:0003444
11 peroneal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0011727
12 tibialis anterior muscle atrophy 30 Frequent (33%) HP:0011399
13 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
14 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
15 hyporeflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001265
16 babinski sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003487
17 optic disc pallor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000543
18 optic neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001138
19 spastic paraparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002313
20 hyperactive deep tendon reflexes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006801
21 slow decrease in visual acuity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007924
22 clasp-knife sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031866
23 distal amyotrophy 30 Occasional (7.5%) HP:0003693
24 hyperreflexia 58 Occasional (29-5%)
25 gait disturbance 58 Frequent (79-30%)
26 peripheral neuropathy 30 HP:0009830
27 distal lower limb muscle weakness 58 Frequent (79-30%)
28 distal muscle weakness 30 HP:0002460
29 upper limb muscle weakness 30 HP:0003484
30 distal lower limb amyotrophy 58 Frequent (79-30%)
31 emg: axonal abnormality 30 HP:0003482
32 tibialis atrophy 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.62 DYNC1H1 EXT1 EXT2 LITAF SMAD9
2 Decreased shRNA abundance GR00251-A-2 9.62 DYNC1H1 EXT1 EXT2 LITAF SMAD9

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.76 BSCL2 DYNC1H1 EGR2 EXT1 GJB1 LITAF
2 behavior/neurological MP:0005386 9.56 BSCL2 DYNC1H1 EGR2 EXT1 GJB1 LITAF
3 mortality/aging MP:0010768 9.28 BSCL2 DYNC1H1 EGR2 EXT1 EXT2 GJB1

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

Cochrane evidence based reviews: 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 2 28

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. 62
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.01 EXT2 EXT1
2 10.6 MPZ EGR2
3 10.23 MPZ LITAF EGR2
4 10.21 EXT2 EXT1

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 gene expression GO:0010467 9.88 EGR2 EXT1 EXT2
2 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.81 EXT2 EXT1
3 heart contraction GO:0060047 9.8 EXT2 EXT1
4 glycosaminoglycan biosynthetic process GO:0006024 9.78 EXT2 EXT1
5 sodium ion homeostasis GO:0055078 9.76 EXT2 EXT1
6 sulfation GO:0051923 9.73 EXT2 EXT1
7 cellular response to fibroblast growth factor stimulus GO:0044344 9.7 EXT2 EXT1
8 heparin biosynthetic process GO:0030210 9.67 EXT2 EXT1
9 multicellular organismal water homeostasis GO:0050891 9.62 EXT2 EXT1
10 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.56 EXT2 EXT1
11 endochondral bone morphogenesis GO:0060350 9.33 EXT2 EXT1
12 fluid transport GO:0042044 9.26 EXT2 EXT1
13 cellular polysaccharide biosynthetic process GO:0033692 8.92 EXT2 EXT1

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

# Name GO ID Score Top Affiliating Genes
1 glucuronosyltransferase activity GO:0015020 9.62 EXT2 EXT1
2 acetylglucosaminyltransferase activity GO:0008375 9.56 EXT2 EXT1
3 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.46 EXT2 EXT1
4 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.26 EXT2 EXT1
5 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.92 EXT2 EXT1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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