CMTX2
MCID: CHR641
MIFTS: 26

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 57 53 72
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 57 53 13
X-Linked Charcot-Marie-Tooth Disease Type 2 12 53 59
Cmtx2 57 12 59
Charcot-Marie-Tooth Disease X-Linked Recessive 2 12 15
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive 75
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:



External Ids:

Disease Ontology 12 DOID:0110208
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1844873
Orphanet 59 ORPHA101076
MedGen 42 C1844873
UMLS 72 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, 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 areflexia and sensory neuropathy

Wikipedia : 75 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

More information from OMIM: 302801 PS118220

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:

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

Symptoms via clinical synopsis from OMIM:

57
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

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
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
2
X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. 8
1557086 1992
3
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 8
1674639 1991
4
Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. 38
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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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