CMT2N
MCID: CHR351
MIFTS: 34

Charcot-Marie-Tooth Disease, Axonal, Type 2n (CMT2N)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2n

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2n:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2n 58 13 74
Cmt2n 58 12 60 76
Charcot-Marie-Tooth Disease Axonal Type 2n 12 76 15
Charcot-Marie-Tooth Disease, Type 2n 30 6 41
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n 12 60
Charcot-Marie-Tooth Neuropathy Axonal Type 2n 12 76
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n 76
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n 58
Charcot-Marie-Tooth Disease 2n 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2n
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
variable age at onset (range 6 to 54 years)


HPO:

33
charcot-marie-tooth disease, axonal, type 2n:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110177
OMIM 58 613287
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C2750090
Orphanet 60 ORPHA228174
MedGen 43 C2750090
UMLS 74 C2750090

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2n

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2N: 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2n, also known as cmt2n, is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2n is AARS (Alanyl-TRNA Synthetase), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include skeletal muscle, and related phenotypes are sensorineural hearing impairment and skeletal muscle atrophy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the AARS gene on chromosome 16q21.

Description from OMIM: 613287

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2n

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
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 tooth disease 28.5 AARS GJB1 KIF1B MFN2 TRPV4
2 charcot-marie-tooth disease 28.5 AARS GJB1 KIF1B MFN2 TRPV4
3 charcot-marie-tooth disease type 2n 11.8
4 amyotrophic neuralgia 10.0 GJB1 KIF1B
5 charcot-marie-tooth disease, axonal, type 2f 10.0 GJB1 KIF1B
6 charcot-marie-tooth disease, axonal, type 2d 10.0 GJB1 KIF1B
7 charcot-marie-tooth disease, demyelinating, type 1c 10.0 GJB1 KIF1B
8 charcot-marie-tooth disease, demyelinating, type 1b 9.9 GJB1 KIF1B
9 charcot-marie-tooth disease, axonal, type 2b 9.9 GJB1 KIF1B
10 charcot-marie-tooth disease, demyelinating, type 1d 9.9 GJB1 KIF1B
11 hypertrophic neuropathy of dejerine-sottas 9.9 GJB1 KIF1B
12 charcot-marie-tooth neuropathy type 2a 9.8 KIF1B MFN2
13 charcot-marie-tooth disease type 2a 9.8 KIF1B MFN2
14 charcot-marie-tooth disease, axonal, type 2a1 9.8 KIF1B MFN2
15 sensory peripheral neuropathy 9.7 GJB1 MFN2
16 motor peripheral neuropathy 9.6 GJB1 KIF1B MFN2
17 charcot-marie-tooth disease, demyelinating, type 1a 9.6 GJB1 KIF1B MFN2
18 neuropathy, hereditary, with liability to pressure palsies 9.6 GJB1 KIF1B MFN2
19 axonal neuropathy 9.6 MFN2 TRPV4
20 charcot-marie-tooth disease and deafness 9.5 GJB1 KIF1B MFN2
21 peripheral nervous system disease 9.5 GJB1 KIF1B MFN2
22 charcot-marie-tooth disease, type 4d 9.5 GJB1 MFN2 TRPV4
23 charcot-marie-tooth disease, axonal, type 2k 9.5 KIF1B MFN2 TRPV4
24 beckwith-wiedemann syndrome 9.4 MFN2 TRPV4
25 charcot-marie-tooth disease, axonal, type 2e 9.3 AARS GJB1 KIF1B MFN2
26 hereditary motor and sensory neuropathy, type iic 9.2 GJB1 KIF1B MFN2 TRPV4

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



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2n

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 skeletal muscle atrophy 33 HP:0003202
3 pes cavus 33 HP:0001761
4 decreased motor nerve conduction velocity 33 HP:0003431
5 areflexia 33 HP:0001284
6 foot dorsiflexor weakness 33 HP:0009027
7 hammertoe 33 HP:0001765
8 peripheral axonal neuropathy 33 HP:0003477
9 distal muscle weakness 33 HP:0002460
10 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
foot deformities
hammertoes

Head And Neck Ears:
sensorineural deafness, variable (in 1 family)

Neurologic Peripheral Nervous System:
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
foot drop
normal or mildly decreased motor nerve conduction velocity (ncv) (greater than 38 m/s)
more
Skeletal Limbs:
ankle sprains

Clinical features from OMIM:

613287

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 AARS GJB1 KIF1B MFN2 TRPV4
2 cardiovascular system MP:0005385 9.46 AARS KIF1B MFN2 TRPV4
3 muscle MP:0005369 9.26 AARS KIF1B MFN2 TRPV4
4 nervous system MP:0003631 9.02 AARS GJB1 KIF1B MFN2 TRPV4

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2n 30 AARS

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2n

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

42
Skeletal Muscle

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2n:

# Title Authors Year
1
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. ( 30124830 )
2018
2
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). ( 22009580 )
2012

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2n

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

76
# Symbol AA change Variation ID SNP ID
1 AARS p.Arg329His VAR_063527 rs267606621
2 AARS p.Asn71Tyr VAR_067084 rs387906792

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2n:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 AARS NM_001605.2(AARS): c.2521-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200586605 GRCh37 Chromosome 16, 70287706: 70287706
2 AARS NM_001605.2(AARS): c.2521-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200586605 GRCh38 Chromosome 16, 70253803: 70253803
3 AARS NM_001605.2(AARS): c.2900A> T (p.Lys967Met) single nucleotide variant Benign/Likely benign rs35744709 GRCh37 Chromosome 16, 70286631: 70286631
4 AARS NM_001605.2(AARS): c.2900A> T (p.Lys967Met) single nucleotide variant Benign/Likely benign rs35744709 GRCh38 Chromosome 16, 70252728: 70252728
5 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
6 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh38 Chromosome 16, 70268356: 70268356
7 AARS NM_001605.2(AARS): c.211A> T (p.Asn71Tyr) single nucleotide variant Pathogenic rs387906792 GRCh37 Chromosome 16, 70310991: 70310991
8 AARS NM_001605.2(AARS): c.211A> T (p.Asn71Tyr) single nucleotide variant Pathogenic rs387906792 GRCh38 Chromosome 16, 70277088: 70277088
9 AARS NM_001605.2(AARS): c.1685C> T (p.Thr562Ile) single nucleotide variant Benign/Likely benign rs148355156 GRCh38 Chromosome 16, 70261144: 70261144
10 AARS NM_001605.2(AARS): c.1685C> T (p.Thr562Ile) single nucleotide variant Benign/Likely benign rs148355156 GRCh37 Chromosome 16, 70295047: 70295047
11 AARS NM_001605.2(AARS): c.2791G> A (p.Gly931Ser) single nucleotide variant Benign/Likely benign rs149377346 GRCh38 Chromosome 16, 70252837: 70252837
12 AARS NM_001605.2(AARS): c.2791G> A (p.Gly931Ser) single nucleotide variant Benign/Likely benign rs149377346 GRCh37 Chromosome 16, 70286740: 70286740
13 AARS NM_001605.2(AARS): c.903C> T (p.His301=) single nucleotide variant Benign rs2070203 GRCh37 Chromosome 16, 70303580: 70303580
14 AARS NM_001605.2(AARS): c.903C> T (p.His301=) single nucleotide variant Benign rs2070203 GRCh38 Chromosome 16, 70269677: 70269677
15 AARS NM_001605.2(AARS): c.2715T> C (p.Val905=) single nucleotide variant Benign rs4081753 GRCh38 Chromosome 16, 70253274: 70253274
16 AARS NM_001605.2(AARS): c.2715T> C (p.Val905=) single nucleotide variant Benign rs4081753 GRCh37 Chromosome 16, 70287177: 70287177
17 AARS NM_001605.2(AARS): c.328T> C (p.Phe110Leu) single nucleotide variant Likely pathogenic rs1555542415 GRCh38 Chromosome 16, 70276971: 70276971
18 AARS NM_001605.2(AARS): c.328T> C (p.Phe110Leu) single nucleotide variant Likely pathogenic rs1555542415 GRCh37 Chromosome 16, 70310874: 70310874

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2n.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2n according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 KIF1B MFN2

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2n

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2n

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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