Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Hereditary motor and sensory neuropathy

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

SNOMED-CT via HPO ⁶⁸ 111266001 22325002 274523007 more

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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

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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
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:

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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

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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

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

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

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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	Cordeiro JL...Osorio FL	24654889	2014
2	Rehabilitation interventions for foot drop in neuromuscular disease. ⁶¹	Sackley C...Wade DT	17443532	2007
3	[Hereditary motor and sensory neuropathy of Charcot-Marie-Tooth disease]. ⁶¹	Sturtz F...Vandenberghe A	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	Ono S...Nagao K	7687811	1993
5	Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. ⁶¹	Lebo RV...Hall J	1683643	1991
6	Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). ⁶¹	Chance PF...Leppert M	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	Ouvrier RA...Conchin TE	3467805	1987
8	H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease. ⁶¹	Heimans JJ...Whitton HW	6295678	1982
9	Distal and scapuloperoneal distributions of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. ⁶¹	Harding AE...Thomas PK	6157795	1980

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

Genes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MFN2	Mitofusin 2	Protein Coding	8.49	GeneCards inferred via : Variants (show sections)

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

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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.

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

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

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

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