CMTX3
MCID: CHR642
MIFTS: 36

Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 (CMTX3)

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, 3

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

Name: Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 57 53 73
X-Linked Charcot-Marie-Tooth Disease Type 3 12 53 59
Cmtx3 57 12 59
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 57 13
Charcot-Marie-Tooth Disease X-Linked Recessive 3 12 15
Cmt3x 12 59
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 3 29
Charcotmarietooth Disease, X-Linked Type 3, Recessive 76
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3 12
Charcot Marie Tooth Disease X-Linked Recessive 3 53
Cmtx 3 53

Characteristics:

Orphanet epidemiological data:

59
x-linked charcot-marie-tooth disease type 3
Inheritance: X-linked recessive;

OMIM:

57
Miscellaneous:
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
both demyelinating and axonal features
onset at age 10 to 14 years
see also cmtx1 and cmtx2

Inheritance:
x-linked recessive


HPO:

32
charcot-marie-tooth disease, x-linked recessive, 3:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Disease Ontology : 12 A Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xq26.

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Recessive, 3, also known as x-linked charcot-marie-tooth disease type 3, 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, 3 is CMTX3 (Charcot-Marie-Tooth Neuropathy, X-Linked 3 (Dominant)). Affiliated tissues include eye, and related phenotypes are intellectual disability and ataxia

Wikipedia : 76 Charcot�??Marie�??Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group... more...

Description from OMIM: 302802

Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:



Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus

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

Clinical features from OMIM:

302802

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
5 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
6 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
7 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
8 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
9 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
10 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
11 sensory axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003390
12 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
13 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
14 excessive daytime somnolence 59 32 occasional (7.5%) Occasional (29-5%) HP:0001262
15 paraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002385
16 distal lower limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008944
17 motor axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007002
18 abnormal pyramidal signs 59 Very frequent (99-80%)
19 sensory neuropathy 59 Very frequent (99-80%)
20 decreased nerve conduction velocity 32 HP:0000762
21 pes cavus 32 HP:0001761
22 areflexia 32 HP:0001284
23 foot dorsiflexor weakness 32 HP:0009027
24 upper limb muscle weakness 32 HP:0003484
25 peripheral axonal neuropathy 59 Very frequent (99-80%)
26 distal muscle weakness 32 HP:0002460
27 steppage gait 32 HP:0003376
28 distal amyotrophy 32 HP:0003693
29 distal sensory impairment 32 HP:0002936
30 abnormal pyramidal sign 32 hallmark (90%) HP:0007256
31 emg 32 HP:0003482

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 ATP7A BSCL2 GJB1 HSPB8 SETX SNCA
2 homeostasis/metabolism MP:0005376 9.5 ATP7A BSCL2 GJB1 HSPB8 SETX SNCA
3 immune system MP:0005387 9.1 ATP7A BSCL2 GJB1 HSPB8 SETX SNCA

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 3 29

Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3:

41
Eye

Publications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Expression for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3.

Pathways for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

GO Terms for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Cellular components related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.92 ATP7A BSCL2 GJB1 SULT2B1

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.26 SETX SNCA
2 cellular response to fibroblast growth factor stimulus GO:0044344 9.16 SETX SNCA
3 cellular response to copper ion GO:0071280 8.96 ATP7A SNCA
4 dopamine metabolic process GO:0042417 8.62 ATP7A SNCA

Molecular functions related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 ATP7A SNCA
2 cuprous ion binding GO:1903136 8.62 ATP7A SNCA

Sources for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

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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