MCID: CHR641
MIFTS: 27

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

Categories: Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Genetic diseases, Muscle diseases, Eye diseases, Metabolic 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 53 13 73
X-Linked Charcot-Marie-Tooth Disease Type 2 12 53 59
Cmtx2 57 12 59
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 57 53
Charcot-Marie-Tooth Disease X-Linked Recessive 2 12 15
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 53
Cmtx 2 53

Characteristics:

Orphanet epidemiological data:

59
x-linked charcot-marie-tooth disease type 2
Inheritance: X-linked recessive;

OMIM:

57
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:

32
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 charcot-marie-tooth disease, x-linked recessive, 3. 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 seizures and ataxia

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
4 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
7 sensory neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000763
8 pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001761
9 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
10 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
11 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
12 excessive daytime somnolence 59 32 occasional (7.5%) Occasional (29-5%) HP:0001262
13 lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007340
14 abnormal nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0040129
15 distal upper limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007149
16 intellectual disability 32 occasional (7.5%) HP:0001249
17 peripheral neuropathy 59 Very frequent (99-80%)
18 decreased motor nerve conduction velocity 32 HP:0003431
19 foot dorsiflexor weakness 32 HP:0009027
20 distal muscle weakness 32 HP:0002460
21 steppage gait 32 HP:0003376
22 distal amyotrophy 32 occasional (7.5%) HP:0003693
23 distal sensory impairment 32 HP:0002936
24 upper limb muscle weakness 32 HP:0003484
25 emg 32 HP:0003482

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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