MCID: CHR115
MIFTS: 24

Charcot-Marie-Tooth Neuropathy Type 2a

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 2a

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy Type 2a:

Name: Charcot-Marie-Tooth Neuropathy Type 2a 24
Hereditary Motor Sensory Neuropathy Iia 24
Hmsniia 24
Hmsn2a 24
Cmt2a 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance is considered to be complete. some individuals with mfn2 pathogenic variants are asymptomatic and have only mild findings on examination; in these cases, however, the disease may prove to be late onset [lawson et al 2005].

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 2a, also known as hereditary motor sensory neuropathy iia, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 2a is MFN2 (Mitofusin 2), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. The drugs 4-des-dimethylaminotetracycline and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes and skeletal muscle.

GeneReviews: NBK1511

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 2a

Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 4j
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5

Diseases related to Charcot-Marie-Tooth Neuropathy Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.5 MFN2 KIF1B
2 tooth disease 30.3 MFN2 KIF1B
3 charcot-marie-tooth disease type 2a 30.2 MFN2 KIF1B
4 charcot-marie-tooth disease, axonal, type 2a1 30.0 MFN2 KIF1B
5 hereditary motor and sensory neuropathy, type iic 29.6 MFN2 KIF1B
6 peripheral nervous system disease 29.5 MFN2 KIF1B
7 charcot-marie-tooth disease, demyelinating, type 1a 29.4 MFN2 KIF1B
8 spastic paraplegia 10, autosomal dominant 11.2
9 charcot-marie-tooth disease, axonal, type 2cc 11.2
10 charcot-marie-tooth disease, axonal, type 2dd 11.2
11 charcot-marie-tooth disease, axonal, type 2ee 11.2
12 neuropathy 10.8
13 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.6
14 body mass index quantitative trait locus 11 10.4
15 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.4
16 sensory peripheral neuropathy 10.4
17 axonal neuropathy 10.4
18 charcot-marie-tooth hereditary neuropathy 10.4
19 foot drop 10.4
20 hereditary neuropathies 10.4
21 tremor 10.4
22 charcot-marie-tooth disease, axonal, type 2b 10.2
23 polyneuropathy 10.2
24 charcot-marie-tooth disease, axonal, type 2f 10.1
25 charcot-marie-tooth disease type 2a2 10.1
26 rare surgical neurologic disease 10.1
27 motor peripheral neuropathy 9.6 MFN2 KIF1B
28 neuropathy, hereditary, with liability to pressure palsies 9.5 MFN2 KIF1B
29 charcot-marie-tooth disease, axonal, type 2k 9.4 MFN2 KIF1B
30 charcot-marie-tooth disease and deafness 9.4 MFN2 KIF1B
31 charcot-marie-tooth disease, axonal, type 2e 9.1 MFN2 KIF1B

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Neuropathy Type 2a:



Diseases related to Charcot-Marie-Tooth Neuropathy Type 2a

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy Type 2a

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 2a

Drugs for Charcot-Marie-Tooth Neuropathy Type 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-des-dimethylaminotetracycline
2 HIV Protease Inhibitors
3
protease inhibitors
4 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
2 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300
3 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075

Search NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 2a

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 2a

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 2a

MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy Type 2a:

41
Testes, Skeletal Muscle

Publications for Charcot-Marie-Tooth Neuropathy Type 2a

Articles related to Charcot-Marie-Tooth Neuropathy Type 2a:

(show all 36)
# Title Authors PMID Year
1
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 38 4
16762064 2006
2
The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. 38 4
15829499 2005
3
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 38 4
15064763 2004
4
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 4
21715711 2011
5
MFN2 mutations cause severe phenotypes in most patients with CMT2A. 4
21508331 2011
6
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. 4
21280073 2011
7
Early-onset stroke associated with a mutation in mitofusin 2. 4
18490623 2008
8
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. 4
17215403 2007
9
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 4
16714318 2006
10
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 4
16835246 2006
11
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 4
16437557 2006
12
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. 4
16087932 2005
13
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 4
16043786 2005
14
Structural basis of mitochondrial tethering by mitofusin complexes. 4
15297672 2004
15
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. 4
15136675 2004
16
Coexistent hereditary and inflammatory neuropathy. 4
14607795 2004
17
CMT with pyramidal features. Charcot-Marie-Tooth. 4
12601114 2003
18
Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. 4
11950885 2002
19
Control of mitochondrial morphology by a human mitofusin. 4
11181170 2001
20
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. 4
11148244 2001
21
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. 4
11080236 2000
22
The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. 4
11232233 2000
23
Neuropathic pain in Charcot-Marie-Tooth disease. 4
9862301 1998
24
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 4
9409358 1997
25
Profiles of neuromuscular diseases. Hereditary motor and sensory neuropathy, types I and II. 4
7576421 1995
26
Foot and ankle manifestations of Charcot-Marie-Tooth disease. 4
8253442 1993
27
Prednisone-responsive hereditary motor and sensory neuropathy. 4
7070119 1982
28
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. 38
26307494 2015
29
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. 38
22926664 2013
30
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. 38
22526351 2012
31
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function. 38
22433900 2012
32
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 38
20418531 2010
33
Dysregulation of mitochondrial fusion and fission: an emerging concept in neurodegeneration. 38
16468021 2006
34
Expression of Mfn2, the Charcot-Marie-Tooth neuropathy type 2A gene, in human skeletal muscle: effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor alpha and interleukin-6. 38
16123358 2005
35
Charcot-Marie-Tooth Neuropathy Type 2A 38
20301684 2005
36
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 38
15549395 2005

Variations for Charcot-Marie-Tooth Neuropathy Type 2a

Expression for Charcot-Marie-Tooth Neuropathy Type 2a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 2a.

Pathways for Charcot-Marie-Tooth Neuropathy Type 2a

Pathways related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 MFN2 KIF1B

GO Terms for Charcot-Marie-Tooth Neuropathy Type 2a

Cellular components related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 TOMM40 MFN2 KIF1B
2 mitochondrial outer membrane GO:0005741 8.62 TOMM40 MFN2

Biological processes related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 8.62 TOMM40 MFN2

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

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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