MCID: MFN001
MIFTS: 14

Mfn2 Hereditary Motor and Sensory Neuropathy

Categories: Neuronal diseases

Aliases & Classifications for Mfn2 Hereditary Motor and Sensory Neuropathy

MalaCards integrated aliases for Mfn2 Hereditary Motor and Sensory Neuropathy:

Name: Mfn2 Hereditary Motor and Sensory Neuropathy 24
Mfn2 Charcot-Marie-Tooth Neuropathy 24
Mfn2-Hmsn 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance for ad mfn2-hmsn is considered to be complete. while some individuals with a heterozygous mfn2 pathogenic variant are asymptomatic and have only mild findings on examination at the time of diagnosis, the disease may prove to be late onset in these instances [lawson et al 2005].

Classifications:



Summaries for Mfn2 Hereditary Motor and Sensory Neuropathy

MalaCards based summary : Mfn2 Hereditary Motor and Sensory Neuropathy, also known as mfn2 charcot-marie-tooth neuropathy, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Mfn2 Hereditary Motor and Sensory Neuropathy is KIF1B (Kinesin Family Member 1B), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production.

GeneReviews: NBK1511

Related Diseases for Mfn2 Hereditary Motor and Sensory Neuropathy

Diseases related to Mfn2 Hereditary Motor and Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.0 MFN2 KIF1B
2 charcot-marie-tooth disease, axonal, type 2a1 30.0 MFN2 KIF1B
3 sensory peripheral neuropathy 29.8 MFN2 KIF1B
4 3-methylglutaconic aciduria, type iii 29.5 MFN2 KIF1B
5 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.3
6 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.3
7 charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b 10.3
8 neuropathy 10.3
9 foot drop 10.3
10 tremor 10.3
11 charcot-marie-tooth disease type 2a 9.7 MFN2 KIF1B
12 tooth disease 9.7 MFN2 KIF1B
13 charcot-marie-tooth disease type x 9.7 MFN2 KIF1B
14 charcot-marie-tooth disease, axonal, type 2l 9.7 MFN2 KIF1B
15 hereditary motor and sensory neuropathy, type iic 9.7 MFN2 KIF1B
16 charcot-marie-tooth disease, axonal, type 2f 9.7 MFN2 KIF1B
17 charcot-marie-tooth disease, x-linked dominant, 1 9.7 MFN2 KIF1B
18 charcot-marie-tooth disease, type 4a 9.7 MFN2 KIF1B
19 charcot-marie-tooth disease, axonal, type 2d 9.7 MFN2 KIF1B
20 charcot-marie-tooth disease, demyelinating, type 1b 9.7 MFN2 KIF1B
21 charcot-marie-tooth disease, axonal, type 2b2 9.7 MFN2 KIF1B
22 charcot-marie-tooth disease, demyelinating, type 1a 9.7 MFN2 KIF1B
23 neuropathy, hereditary, with liability to pressure palsies 9.6 MFN2 KIF1B
24 hypertrophic neuropathy of dejerine-sottas 9.6 MFN2 KIF1B
25 charcot-marie-tooth disease and deafness 9.6 MFN2 KIF1B
26 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.6 MFN2 KIF1B
27 peripheral nervous system disease 9.5 MFN2 KIF1B
28 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.5 MFN2 KIF1B
29 neuromuscular disease 9.5 MFN2 KIF1B
30 charcot-marie-tooth disease, axonal, type 2e 9.2 MFN2 KIF1B

Graphical network of the top 20 diseases related to Mfn2 Hereditary Motor and Sensory Neuropathy:



Diseases related to Mfn2 Hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Mfn2 Hereditary Motor and Sensory Neuropathy

Drugs & Therapeutics for Mfn2 Hereditary Motor and Sensory Neuropathy

Search Clinical Trials , NIH Clinical Center for Mfn2 Hereditary Motor and Sensory Neuropathy

Genetic Tests for Mfn2 Hereditary Motor and Sensory Neuropathy

Anatomical Context for Mfn2 Hereditary Motor and Sensory Neuropathy

Publications for Mfn2 Hereditary Motor and Sensory Neuropathy

Articles related to Mfn2 Hereditary Motor and Sensory Neuropathy:

(show all 38)
# Title Authors PMID Year
1
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. 24
31902012 2020
2
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan. 24
31211173 2019
3
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. 24
30642740 2019
4
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp). 24
31127728 2019
5
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. 24
30158064 2018
6
Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. 24
30120135 2018
7
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease. 24
29215088 2018
8
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients. 24
29174527 2018
9
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. 24
28660751 2017
10
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
11
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
12
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 24
27862672 2017
13
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. 24
28063088 2017
14
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling. 24
26930221 2016
15
Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations. 24
26306937 2015
16
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 24
26085578 2015
17
Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement. 24
25258575 2014
18
Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria. 24
21987543 2011
19
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. 24
22003934 2011
20
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 24
21715711 2011
21
MFN2 mutations cause severe phenotypes in most patients with CMT2A. 24
21508331 2011
22
Early-onset stroke associated with a mutation in mitofusin 2. 24
18490623 2008
23
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 24
16714318 2006
24
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 24
16835246 2006
25
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 24
16762064 2006
26
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 24
16437557 2006
27
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. 24
16087932 2005
28
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 24
16043786 2005
29
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. 24
15136675 2004
30
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 24
15064763 2004
31
CMT with pyramidal features. Charcot-Marie-Tooth. 24
12601114 2003
32
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. 24
11148244 2001
33
The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. 24
11232233 2000
34
Neuropathic pain in Charcot-Marie-Tooth disease. 24
9862301 1998
35
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 24
9409358 1997
36
Profiles of neuromuscular diseases. Hereditary motor and sensory neuropathy, types I and II. 24
7576421 1995
37
Foot and ankle manifestations of Charcot-Marie-Tooth disease. 24
8253442 1993
38
MFN2 Hereditary Motor and Sensory Neuropathy 61
20301684 2005

Variations for Mfn2 Hereditary Motor and Sensory Neuropathy

Expression for Mfn2 Hereditary Motor and Sensory Neuropathy

Search GEO for disease gene expression data for Mfn2 Hereditary Motor and Sensory Neuropathy.

Pathways for Mfn2 Hereditary Motor and Sensory Neuropathy

Pathways related to Mfn2 Hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 MFN2 KIF1B

GO Terms for Mfn2 Hereditary Motor and Sensory Neuropathy

Biological processes related to Mfn2 Hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 8.62 MFN2 KIF1B

Sources for Mfn2 Hereditary Motor and Sensory Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....