CMT2A2A
MCID: CHR660
MIFTS: 36

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

Categories: Genetic diseases, Metabolic 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 56
Cmt2a2 56 58 73
Charcot-Marie-Tooth Disease, Axonal, Type 2a2a 56 29
Charcot-Marie-Tooth Disease, Axonal, Type 2a2 56 71
Hereditary Motor and Sensory Neuropathy Iia2 56 73
Charcot-Marie-Tooth Disease, Type 2a2a 29 6
Hmsn Iia2 56 73
Cmt2a2a 56 73
Hmsn2a2 56 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 58
Charcot-Marie-Tooth Disease, Axonal, Type 2a2; Cmt2a2 56
Hereditary Motor and Sensory Neuropathy Iia2; Hmsn2a2 56
Charcot-Marie-Tooth Disease, Neuronal, Type 2a2 56
Charcot-Marie-Tooth Disease Neuronal Type 2a2 73
Charcot-Marie-Tooth Disease Axonal Type 2a2 73
Charcot-Marie-Tooth Neuropathy, Type 2a2 56
Charcot-Marie-Tooth Neuropathy Type 2a2 73
Charcot-Marie-Tooth Disease 2a2a 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 autosomal recessive 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 : 56 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)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a, also known as cmt2a2, is related to charcot-marie-tooth disease type 2a2 and optic atrophy 1, 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 sensory axonal neuropathy and foot dorsiflexor weakness

UniProtKB/Swiss-Prot : 73 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 2a2 11.9
2 optic atrophy 1 10.2
3 3-methylglutaconic aciduria, type iii 10.2
4 optic nerve disease 10.2

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 sensory axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003390
2 foot dorsiflexor weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009027
3 absent achilles reflex 58 31 hallmark (90%) Very frequent (99-80%) HP:0003438
4 emg: chronic denervation signs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003444
5 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
6 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
7 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
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 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
11 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
12 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
13 impaired temperature sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010829
14 hand muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0030237
15 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
16 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
17 increased laxity of ankles 58 31 frequent (33%) Frequent (79-30%) HP:0006460
18 paresis of extensor muscles of the big toe 58 31 frequent (33%) Frequent (79-30%) HP:0002601
19 foot pain 58 31 frequent (33%) Frequent (79-30%) HP:0025238
20 muscle spasm 31 frequent (33%) HP:0003394
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 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
25 vocal cord paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001605
26 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
27 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
28 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
29 steppage gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0003376
30 quadriceps muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003731
31 restless legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012452
32 abnormality of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0002143
33 distal lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008944
34 absent patellar reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006844
35 upper limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012513
36 triceps weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031108
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 tremor 31 occasional (7.5%) HP:0001337
40 hyperreflexia 31 occasional (7.5%) HP:0001347
41 hearing impairment 31 occasional (7.5%) HP:0000365
42 mental deterioration 31 occasional (7.5%) HP:0001268
43 hydrocephalus 58 31 very rare (1%) Very rare (<4-1%) HP:0000238
44 scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002650
45 nyctalopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000662
46 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
47 hypertonia 31 HP:0001276
48 areflexia 31 HP:0001284
49 abnormality of the foot 58 Very frequent (99-80%)
50 areflexia of lower limbs 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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

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...

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2a2a 29 MFN2
2 Charcot-Marie-Tooth Disease, Axonal, Type 2a2a 29

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 all 34)
# Title Authors PMID Year
1
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. 6 56
20530328 2010
2
Phenotypic spectrum of MFN2 mutations in the Spanish population. 6 56
19889647 2010
3
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 56 6
18946002 2008
4
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 6 56
16835246 2006
5
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. 6 56
16087932 2005
6
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 6 56
15064763 2004
7
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. 56 6
15136675 2004
8
CMT with pyramidal features. Charcot-Marie-Tooth. 6 56
12601114 2003
9
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. 6 56
11148244 2001
10
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 56 6
9409358 1997
11
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 6 56
8406488 1993
12
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 6
21715711 2011
13
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 56
21326314 2011
14
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 56
22206013 2011
15
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. 56
19618221 2010
16
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 56
20008656 2009
17
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 6
18458227 2008
18
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. 56
17959936 2008
19
Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. 56
17309650 2007
20
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 6
16437557 2006
21
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 56
16043786 2005
22
Charcot-Marie-Tooth Neuropathy Type 2A 6
20301684 2005
23
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 6
15549395 2005
24
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
25
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
26
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 6
10732809 1997
27
Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. 56
1733853 1992
28
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. 56
3022865 1986
29
Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations. 61
30340945 2018
30
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
31
Ethambutol toxicity exacerbating the phenotype of CMT2A2. 61
23733358 2013
32
Genetic and phenotypic variability of optic neuropathies. 61
23545052 2013
33
Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses. 61
22762946 2013
34
An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. 61
21526202 2011

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 all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFN2 NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)SNV Pathogenic 2268 rs28940291 1:12052717-12052717 1:11992660-11992660
2 MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser)SNV Pathogenic 2269 rs28940292 1:12071567-12071567 1:12011510-12011510
3 MFN2 NM_014874.3(MFN2):c.227T>C (p.Leu76Pro)SNV Pathogenic 2270 rs28940293 1:12052663-12052663 1:11992606-11992606
4 MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His)SNV Pathogenic 2271 rs28940294 1:12061480-12061480 1:12001423-12001423
5 MFN2 NM_014874.3(MFN2):c.205G>T (p.Val69Phe)SNV Pathogenic 2273 rs28940296 1:12052641-12052641 1:11992584-11992584
6 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659
7 MFN2 NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)SNV Pathogenic 2278 rs119103265 1:12062090-12062090 1:12002033-12002033
8 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)SNV Pathogenic 2281 rs119103268 1:12052746-12052746 1:11992689-11992689
9 MFN2 NM_014874.3(MFN2):c.746C>T (p.Ser249Phe)SNV Pathogenic 202171 rs794729198 1:12059082-12059082 1:11999025-11999025
10 MFN2 NM_014874.3(MFN2):c.494A>G (p.His165Arg)SNV Pathogenic 217164 rs863224970 1:12057373-12057373 1:11997316-11997316
11 MFN2 NM_014874.3(MFN2):c.2256C>A (p.Tyr752Ter)SNV Pathogenic 217162 rs863224968 1:12071604-12071604 1:12011547-12011547
12 MFN2 NM_014874.3(MFN2):c.730G>A (p.Val244Met)SNV Pathogenic 243066 rs879253777 1:12059066-12059066 1:11999009-11999009
13 MFN2 NM_001127660.1(MFN2):c.730G>T (p.Val244Leu)SNV Pathogenic 243057 rs879253777 1:12059066-12059066 1:11999009-11999009
14 MFN2 NM_014874.3(MFN2):c.707C>T (p.Thr236Met)SNV Pathogenic/Likely pathogenic 217165 rs773159585 1:12058934-12058934 1:11998877-11998877
15 MFN2 NM_014874.3(MFN2):c.1126A>G (p.Met376Val)SNV Pathogenic/Likely pathogenic 217161 rs863224967 1:12062126-12062126 1:12002069-12002069
16 MFN2 NM_014874.3(MFN2):c.775C>T (p.Arg259Cys)SNV Pathogenic/Likely pathogenic 155730 rs587777875 1:12059111-12059111 1:11999054-11999054
17 MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp)SNV Pathogenic/Likely pathogenic 2280 rs119103267 1:12069698-12069698 1:12009641-12009641
18 MFN2 NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn)SNV Likely pathogenic 2274 rs119103261 1:12062071-12062071 1:12002014-12002014
19 MFN2 NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met)SNV Likely pathogenic 30738 rs387906991 1:12062085-12062085 1:12002028-12002028
20 MFN2 NM_014874.3(MFN2):c.436C>T (p.Leu146Phe)SNV Likely pathogenic 217163 rs863224969 1:12056337-12056337 1:11996280-11996280
21 MFN2 NM_001127660.1(MFN2):c.479T>G (p.Val160Gly)SNV Likely pathogenic 243073 rs879253861 1:12057358-12057358 1:11997301-11997301
22 MFN2 NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro)SNV Likely pathogenic 243067 rs763492075 1:12067183-12067183 1:12007126-12007126
23 MFN2 NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser)SNV Likely pathogenic 243074 rs879253862 1:12057405-12057405 1:11997348-11997348
24 MFN2 NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly)SNV Likely pathogenic 523025 rs1266361856 1:12064915-12064915 1:12004858-12004858
25 MFN2 NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys)SNV Likely pathogenic 522942 rs369140232 1:12065827-12065827 1:12005770-12005770
26 MFN2 NM_014874.3(MFN2):c.653T>C (p.Leu218Pro)SNV Conflicting interpretations of pathogenicity 245744 rs879253925 1:12058880-12058880 1:11998823-11998823
27 MFN2 NM_014874.3(MFN2):c.1403G>A (p.Arg468His)SNV Conflicting interpretations of pathogenicity 2282 rs138382758 1:12064892-12064892 1:12004835-12004835
28 MFN2 NM_014874.3(MFN2):c.1392+2T>CSNV Conflicting interpretations of pathogenicity 30735 rs111723244 1:12064672-12064672 1:12004615-12004615
29 MFN2 NM_014874.3(MFN2):c.493C>G (p.His165Asp)SNV Conflicting interpretations of pathogenicity 2275 rs119103262 1:12057372-12057372 1:11997315-11997315
30 MFN2 NM_014874.3(MFN2):c.751C>G (p.Pro251Ala)SNV Conflicting interpretations of pathogenicity 2272 rs28940295 1:12059087-12059087 1:11999030-11999030
31 MFN2 NM_014874.3(MFN2):c.1143_1145GGC[1] (p.Ala383del)short repeat Uncertain significance 446368 rs1553144065 1:12062143-12062145 1:12002086-12002088

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

73 (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

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

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

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

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