CMT2A2A
MCID: CHR660
MIFTS: 36

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a (CMT2A2A)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:

Name: Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 57
Charcot-Marie-Tooth Disease, Axonal, Type 2a2 57 6 70
Cmt2a2 57 58 72
Hereditary Motor and Sensory Neuropathy Iia2 57 72
Hmsn Iia2 57 72
Cmt2a2a 57 72
Hmsn2a2 57 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 58
Charcot-Marie-Tooth Disease, Axonal, Type 2a2; Cmt2a2 57
Hereditary Motor and Sensory Neuropathy Iia2; Hmsn2a2 57
Charcot-Marie-Tooth Disease, Neuronal, Type 2a2 57
Charcot-Marie-Tooth Disease, Axonal, Type 2a2a 57
Charcot-Marie-Tooth Disease Neuronal Type 2a2 72
Charcot-Marie-Tooth Disease Axonal Type 2a2 72
Charcot-Marie-Tooth Neuropathy, Type 2a2 57
Charcot-Marie-Tooth Neuropathy Type 2a2 72
Charcot-Marie-Tooth Disease 2a2a 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2a2
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
variable age at onset (childhood to age 50)
earlier onset is associated with a more severe disorder
usually begins in feet and legs (peroneal distribution), but may progress to upper limbs
one family with a fatal subacute encephalopathy has been reported
up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance


HPO:

31
charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

OMIM® : 57 Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B (118200) and CMT1A (118220) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A (214400) and CMTX1 (302800) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively. For a discussion of genetic heterogeneity of CMT type 2, see 118210. (609260) (Updated 20-May-2021)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a, also known as charcot-marie-tooth disease, axonal, type 2a2, is related to charcot-marie-tooth disease type 2a2a and 3-methylglutaconic aciduria, type iii, and has symptoms including pain An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a is MFN2 (Mitofusin 2). Affiliated tissues include spinal cord and brain, and related phenotypes are foot dorsiflexor weakness and emg: chronic denervation signs

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 2A2A: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2a2a 11.0
2 3-methylglutaconic aciduria, type iii 10.0
3 optic atrophy 1 9.9
4 ataxia and polyneuropathy, adult-onset 9.9
5 alacrima, achalasia, and mental retardation syndrome 9.9
6 hydrocephalus 9.9
7 optic nerve disease 9.9
8 axonal neuropathy 9.9
9 hydromyelia 9.9
10 tremor 9.9

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 foot dorsiflexor weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009027
2 emg: chronic denervation signs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003444
3 absent achilles reflex 58 31 hallmark (90%) Very frequent (99-80%) HP:0003438
4 sensory axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003390
5 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
6 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
7 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
8 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
9 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
10 impaired temperature sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010829
11 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
12 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
13 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
14 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
15 foot pain 58 31 frequent (33%) Frequent (79-30%) HP:0025238
16 hand muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0030237
17 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
18 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
19 paresis of extensor muscles of the big toe 58 31 frequent (33%) Frequent (79-30%) HP:0002601
20 increased laxity of ankles 58 31 frequent (33%) Frequent (79-30%) HP:0006460
21 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
22 optic atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000648
23 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
24 vocal cord paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001605
25 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
26 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
27 steppage gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0003376
28 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
29 quadriceps muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003731
30 abnormality of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0002143
31 absent patellar reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006844
32 distal lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008944
33 upper limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012513
34 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
35 triceps weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031108
36 restless legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012452
37 inability to walk by childhood/adolescence 58 31 occasional (7.5%) Occasional (29-5%) HP:0006915
38 spasticity 31 occasional (7.5%) HP:0001257
39 hyperreflexia 31 occasional (7.5%) HP:0001347
40 tremor 31 occasional (7.5%) HP:0001337
41 hearing impairment 31 occasional (7.5%) HP:0000365
42 mental deterioration 31 occasional (7.5%) HP:0001268
43 scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002650
44 hydrocephalus 58 31 very rare (1%) Very rare (<4-1%) HP:0000238
45 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
46 nyctalopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000662
47 hypertonia 31 HP:0001276
48 areflexia 31 HP:0001284
49 abnormality of the foot 58 Very frequent (99-80%)
50 hyporeflexia 31 HP:0001265

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Neurologic Central Nervous System:
pain
cognitive decline (1 family)
spasticity (1 family)
pyramidal features (rare)
tremor (rare)
more
Head And Neck Ears:
hearing loss (uncommon)

Skeletal Spine:
scoliosis (in those with early onset)

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Head And Neck Eyes:
optic atrophy (uncommon)

Skeletal:
contractures (in those with early onset)

Clinical features from OMIM®:

609260 (Updated 20-May-2021)

UMLS symptoms related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:


pain

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:

40
Spinal Cord, Brain

Publications for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

Articles related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 57 6
21326314 2011
2
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. 57 6
20530328 2010
3
Phenotypic spectrum of MFN2 mutations in the Spanish population. 6 57
19889647 2010
4
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 57 6
20008656 2009
5
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 6 57
18946002 2008
6
Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. 6 57
17309650 2007
7
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 57 6
16835246 2006
8
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. 6 57
16087932 2005
9
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 6 57
15064763 2004
10
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. 6 57
15136675 2004
11
CMT with pyramidal features. Charcot-Marie-Tooth. 6 57
12601114 2003
12
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. 6 57
11148244 2001
13
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 57 6
9409358 1997
14
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 57 6
8406488 1993
15
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. 57
30649465 2019
16
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. 6
30158064 2018
17
Catalogue of inherited disorders found among the Irish Traveller population. 6
29358271 2018
18
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. 6
28414270 2017
19
Genetic heterogeneity of motor neuropathies. 6
28251916 2017
20
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
21
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 6
26378787 2016
22
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 6
26085578 2015
23
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
24
MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 6
26114802 2015
25
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. 6
24819634 2014
26
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 6
25025039 2014
27
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. 6
24126688 2013
28
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. 6
24053775 2013
29
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. 6
22926664 2013
30
MFN2 mutations cause compensatory mitochondrial DNA proliferation. 6
22492563 2012
31
Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria. 6
21987543 2011
32
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 6
21840889 2011
33
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 6
21715711 2011
34
Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 6
21531138 2011
35
MFN2 mutations cause severe phenotypes in most patients with CMT2A. 6
21508331 2011
36
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 57
22206013 2011
37
Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. 6
20587496 2010
38
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 6
20350294 2010
39
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. 57
19618221 2010
40
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 6
18425620 2008
41
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 6
18458227 2008
42
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. 57
17959936 2008
43
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 6
16714318 2006
44
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 6
16437557 2006
45
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 57
16043786 2005
46
MFN2 Hereditary Motor and Sensory Neuropathy 6
20301684 2005
47
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 6
15549395 2005
48
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 6
10732809 1997
49
Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. 57
1733853 1992
50
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. 57
3022865 1986

Variations for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type...

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MFN2 NM_014874.3(MFN2):c.730G>A (p.Val244Met) SNV Pathogenic 243066 rs879253777 GRCh37: 1:12059066-12059066
GRCh38: 1:11999009-11999009
2 MFN2 NM_014874.3(MFN2):c.205G>T (p.Val69Phe) SNV Pathogenic 2273 rs28940296 GRCh37: 1:12052641-12052641
GRCh38: 1:11992584-11992584
3 MFN2 NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) SNV Pathogenic 2274 rs119103261 GRCh37: 1:12062071-12062071
GRCh38: 1:12002014-12002014
4 MFN2 NM_001127660.1(MFN2):c.730G>T (p.Val244Leu) SNV Pathogenic 243057 rs879253777 GRCh37: 1:12059066-12059066
GRCh38: 1:11999009-11999009
5 MFN2 NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) SNV Pathogenic 2268 rs28940291 GRCh37: 1:12052717-12052717
GRCh38: 1:11992660-11992660
6 MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) SNV Pathogenic 2269 rs28940292 GRCh37: 1:12071567-12071567
GRCh38: 1:12011510-12011510
7 MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His) SNV Pathogenic 2271 rs28940294 GRCh37: 1:12061480-12061480
GRCh38: 1:12001423-12001423
8 MFN2 NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) SNV Pathogenic 2272 rs28940295 GRCh37: 1:12059087-12059087
GRCh38: 1:11999030-11999030
9 MFN2 NM_014874.3(MFN2):c.493C>G (p.His165Asp) SNV Pathogenic 2275 rs119103262 GRCh37: 1:12057372-12057372
GRCh38: 1:11997315-11997315
10 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) SNV Pathogenic 2276 rs119103263 GRCh37: 1:12052716-12052716
GRCh38: 1:11992659-11992659
11 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) SNV Pathogenic 2281 rs119103268 GRCh37: 1:12052746-12052746
GRCh38: 1:11992689-11992689
12 MFN2 NM_014874.3(MFN2):c.494A>G (p.His165Arg) SNV Pathogenic 217164 rs863224970 GRCh37: 1:12057373-12057373
GRCh38: 1:11997316-11997316
13 MFN2 NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) SNV Pathogenic 217162 rs863224968 GRCh37: 1:12071604-12071604
GRCh38: 1:12011547-12011547
14 MFN2 NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) SNV Pathogenic 2278 rs119103265 GRCh37: 1:12062090-12062090
GRCh38: 1:12002033-12002033
15 MFN2 NM_014874.3(MFN2):c.1392+2T>C SNV Pathogenic 30735 rs111723244 GRCh37: 1:12064672-12064672
GRCh38: 1:12004615-12004615
16 MFN2 NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) SNV Pathogenic 155730 rs587777875 GRCh37: 1:12059111-12059111
GRCh38: 1:11999054-11999054
17 MFN2 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) SNV Pathogenic 202171 rs794729198 GRCh37: 1:12059082-12059082
GRCh38: 1:11999025-11999025
18 MFN2 NM_014874.3(MFN2):c.707C>T (p.Thr236Met) SNV Pathogenic 217165 rs773159585 GRCh37: 1:12058934-12058934
GRCh38: 1:11998877-11998877
19 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) SNV Pathogenic 2281 rs119103268 GRCh37: 1:12052746-12052746
GRCh38: 1:11992689-11992689
20 MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) SNV Pathogenic 2280 rs119103267 GRCh37: 1:12069698-12069698
GRCh38: 1:12009641-12009641
21 MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) SNV Pathogenic 2269 rs28940292 GRCh37: 1:12071567-12071567
GRCh38: 1:12011510-12011510
22 MFN2 NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) SNV Pathogenic 2270 rs28940293 GRCh37: 1:12052663-12052663
GRCh38: 1:11992606-11992606
23 MFN2 NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) SNV Pathogenic 30738 rs387906991 GRCh37: 1:12062085-12062085
GRCh38: 1:12002028-12002028
24 MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) SNV Pathogenic/Likely pathogenic 2280 rs119103267 GRCh37: 1:12069698-12069698
GRCh38: 1:12009641-12009641
25 MFN2 NM_001127660.1(MFN2):c.479T>G (p.Val160Gly) SNV Likely pathogenic 243073 rs879253861 GRCh37: 1:12057358-12057358
GRCh38: 1:11997301-11997301
26 MFN2 NM_001127660.1(MFN2):c.827A>G (p.Gln276Arg) SNV Likely pathogenic 2277 rs119103264 GRCh37: 1:12061468-12061468
GRCh38: 1:12001411-12001411
27 MFN2 NM_014874.3(MFN2):c.1126A>G (p.Met376Val) SNV Likely pathogenic 217161 rs863224967 GRCh37: 1:12062126-12062126
GRCh38: 1:12002069-12002069
28 MFN2 NM_014874.4(MFN2):c.701T>A (p.Met234Lys) SNV Likely pathogenic 978264 GRCh37: 1:12058928-12058928
GRCh38: 1:11998871-11998871
29 MFN2 NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) SNV Likely pathogenic 243074 rs879253862 GRCh37: 1:12057405-12057405
GRCh38: 1:11997348-11997348
30 MFN2 NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro) SNV Likely pathogenic 243067 rs763492075 GRCh37: 1:12067183-12067183
GRCh38: 1:12007126-12007126
31 MFN2 NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) SNV Likely pathogenic 522942 rs369140232 GRCh37: 1:12065827-12065827
GRCh38: 1:12005770-12005770
32 MFN2 NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) SNV Likely pathogenic 523025 rs1266361856 GRCh37: 1:12064915-12064915
GRCh38: 1:12004858-12004858
33 MFN2 NM_014874.3(MFN2):c.497C>T (p.Ala166Val) SNV Likely pathogenic 575387 rs1557522849 GRCh37: 1:12057376-12057376
GRCh38: 1:11997319-11997319
34 MFN2 NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) SNV Likely pathogenic 801442 rs1569842296 GRCh37: 1:12058843-12058843
GRCh38: 1:11998786-11998786
35 MFN2 NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) SNV Likely pathogenic 801443 rs1557524703 GRCh37: 1:12058865-12058865
GRCh38: 1:11998808-11998808
36 MFN2 NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) SNV Likely pathogenic 801444 rs28940294 GRCh37: 1:12061480-12061480
GRCh38: 1:12001423-12001423
37 MFN2 NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) SNV Likely pathogenic 245744 rs879253925 GRCh37: 1:12058880-12058880
GRCh38: 1:11998823-11998823
38 MFN2 NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) SNV Likely pathogenic 801445 rs879254011 GRCh37: 1:12062091-12062091
GRCh38: 1:12002034-12002034
39 MFN2 NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) SNV Likely pathogenic 217163 rs863224969 GRCh37: 1:12056337-12056337
GRCh38: 1:11996280-11996280
40 MFN2 NM_014874.4(MFN2):c.2258dup (p.Gln754fs) Duplication Conflicting interpretations of pathogenicity 637433 rs773371488 GRCh37: 1:12071605-12071606
GRCh38: 1:12011548-12011549
41 MFN2 NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) SNV Uncertain significance 836052 GRCh37: 1:12058894-12058894
GRCh38: 1:11998837-11998837
42 MFN2 NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) SNV Uncertain significance 933228 GRCh37: 1:12061560-12061560
GRCh38: 1:12001503-12001503
43 MFN2 NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) SNV Uncertain significance 801440 rs1557515779 GRCh37: 1:12049244-12049244
GRCh38: 1:11989187-11989187
44 MFN2 NM_014874.4(MFN2):c.286C>A (p.His96Asn) SNV Uncertain significance 801441 rs1569816382 GRCh37: 1:12052722-12052722
GRCh38: 1:11992665-11992665
45 MFN2 NM_001127660.1(MFN2):c.1143_1145GGC[1] (p.Ala383del) Microsatellite Uncertain significance 446368 rs1553144065 GRCh37: 1:12062143-12062145
GRCh38: 1:12002086-12002088
46 MFN2 NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys) SNV Uncertain significance 989288 GRCh37: 1:12064925-12064925
GRCh38: 1:12004868-12004868
47 MFN2 NM_014874.4(MFN2):c.515A>G (p.Gln172Arg) SNV Uncertain significance 1030438 GRCh37: 1:12057394-12057394
GRCh38: 1:11997337-11997337
48 MFN2 NM_014874.3(MFN2):c.1987C>T (p.Arg663Cys) SNV Uncertain significance 214648 rs369762154 GRCh37: 1:12067224-12067224
GRCh38: 1:12007167-12007167
49 MFN2 NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr) SNV Uncertain significance 1048590 GRCh37: 1:12066700-12066700
GRCh38: 1:12006643-12006643
50 MFN2 NM_014874.3(MFN2):c.1403G>A (p.Arg468His) SNV Uncertain significance 2282 rs138382758 GRCh37: 1:12064892-12064892
GRCh38: 1:12004835-12004835

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 MFN2 p.Val69Phe VAR_018607 rs28940296
2 MFN2 p.Leu76Pro VAR_018608 rs28940293
3 MFN2 p.Arg94Gln VAR_018609 rs28940291
4 MFN2 p.Pro251Ala VAR_018610 rs28940295
5 MFN2 p.Arg280His VAR_018611 rs28940294
6 MFN2 p.Trp740Ser VAR_018612 rs28940292
7 MFN2 p.Lys357Asn VAR_022464 rs119103261
8 MFN2 p.Arg364Trp VAR_029880 rs119103265
9 MFN2 p.Leu233Val VAR_067088
10 MFN2 p.Glu744Met VAR_067089
11 MFN2 p.Arg707Trp VAR_078443 rs119103267

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