MCID: CHR687
MIFTS: 18

Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

MalaCards integrated aliases for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

Name: Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 58
Charcot-Marie-Tooth Hereditary Neuropathy 58
Cmt/hmsn 58

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease/hereditary motor and sensory neuropathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant,X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 D002607
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C0007959
Orphanet 58 ORPHA166

Summaries for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

MalaCards based summary : Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy, also known as charcot-marie-tooth hereditary neuropathy, is related to charcot-marie-tooth hereditary neuropathy and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy is MFN2 (Mitofusin 2). Related phenotypes are scoliosis and ataxia

Related Diseases for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth hereditary neuropathy 11.5
2 charcot-marie-tooth disease 10.5
3 tooth disease 10.5
4 sensory peripheral neuropathy 10.5
5 neuropathy 10.5
6 hereditary neuropathies 10.5
7 charcot-marie-tooth disease, demyelinating, type 1a 10.4
8 charcot-marie-tooth disease, demyelinating, type 1c 10.4
9 charcot-marie-tooth disease, demyelinating, type 1b 10.2
10 3-methylglutaconic aciduria, type iii 10.2
11 nervous system disease 10.2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:



Diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Human phenotypes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
5 decreased nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000762
6 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
7 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
8 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
9 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
10 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
11 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
12 paralysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003470
13 distal amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003693

Drugs & Therapeutics for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Genetic Tests for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Anatomical Context for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Publications for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Articles related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

# Title Authors PMID Year
1
Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. 61
24654889 2014
2
Rehabilitation interventions for foot drop in neuromuscular disease. 61
17443532 2007
3
[Hereditary motor and sensory neuropathy of Charcot-Marie-Tooth disease]. 61
7735430 1995
4
Degeneration of anterior horn cell in neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type II): a Golgi study. 61
7687811 1993
5
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. 61
1683643 1991
6
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). 61
2239969 1990
7
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. 61
3467805 1987
8
H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease. 61
6295678 1982
9
Distal and scapuloperoneal distributions of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. 61
6157795 1980

Variations for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Expression for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy.

Pathways for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

GO Terms for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Sources for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....