CMTX2
MCID: CHR641
MIFTS: 28

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

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, 2

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

Name: Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 58 54 13 74
X-Linked Charcot-Marie-Tooth Disease Type 2 12 54 60
Cmtx2 58 12 60
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 58 54
Charcot-Marie-Tooth Disease X-Linked Recessive 2 12 15
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive 77
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 2 30
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 12
Charcot Marie Tooth Disease X-Linked Recessive 2 54
Cmtx 2 54

Characteristics:

Orphanet epidemiological data:

60
x-linked charcot-marie-tooth disease type 2
Inheritance: X-linked recessive;

OMIM:

58
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:

33
charcot-marie-tooth disease, x-linked recessive, 2:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



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 x-linked charcot-marie-tooth disease type 2, is related to x-linked charcot-marie-tooth disease and perrault syndrome 1. 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 sensory neuropathy and pes cavus

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

Description from OMIM: 302801

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

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensory neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000763
2 pes cavus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001761
3 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
4 lower limb muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007340
5 abnormal nerve conduction velocity 60 33 hallmark (90%) Very frequent (99-80%) HP:0040129
6 distal upper limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007149
7 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
8 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
9 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
10 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
11 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
12 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
14 language impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002463
15 excessive daytime somnolence 60 33 occasional (7.5%) Occasional (29-5%) HP:0001262
16 intellectual disability 33 occasional (7.5%) HP:0001249
17 distal amyotrophy 33 occasional (7.5%) HP:0003693
18 peripheral neuropathy 60 Very frequent (99-80%)
19 decreased motor nerve conduction velocity 33 HP:0003431
20 foot dorsiflexor weakness 33 HP:0009027
21 upper limb muscle weakness 33 HP:0003484
22 distal muscle weakness 33 HP:0002460
23 steppage gait 33 HP:0003376
24 distal sensory impairment 33 HP:0002936
25 emg: axonal abnormality 33 HP:0003482

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
mental retardation has been reported

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

Clinical features from OMIM:

302801

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 30

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

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

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

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

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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