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 57 13 73
Cmt2n 57 12 59 75
Charcot-Marie-Tooth Disease Axonal Type 2n 12 75 15
Charcot-Marie-Tooth Disease, Type 2n 29 6 40
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n 12 59
Charcot-Marie-Tooth Neuropathy Axonal Type 2n 12 75
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n 57
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n 75
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n 57
Charcot-Marie-Tooth Disease 2n 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2n
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
charcot-marie-tooth disease, axonal, type 2n:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613287
Disease Ontology 12 DOID:0110177
ICD10 33 G60.0
Orphanet 59 ORPHA228174
UMLS via Orphanet 74 C2750090
ICD10 via Orphanet 34 G60.0
MedGen 42 C2750090
MeSH 44 D002607
UMLS 73 C2750090

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

UniProtKB/Swiss-Prot : 75 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 charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2n is AARS (Alanyl-TRNA Synthetase). Affiliated tissues include skin and 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 Deffect

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

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.5 AARS KIF1B TRPV4
2 tooth disease 29.4 AARS KIF1B TRPV4
3 charcot-marie-tooth disease type 2n 11.8
4 hereditary motor and sensory neuropathy, type iic 9.8 KIF1B TRPV4
5 charcot-marie-tooth disease, axonal, type 2k 9.8 KIF1B TRPV4
6 charcot-marie-tooth disease, axonal, type 2e 9.6 AARS KIF1B

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 skeletal muscle atrophy 32 HP:0003202
3 pes cavus 32 HP:0001761
4 decreased motor nerve conduction velocity 32 HP:0003431
5 areflexia 32 HP:0001284
6 foot dorsiflexor weakness 32 HP:0009027
7 hammertoe 32 HP:0001765
8 peripheral axonal neuropathy 32 HP:0003477
9 distal muscle weakness 32 HP:0002460
10 distal sensory impairment 32 HP:0002936

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.33 AARS KIF1B TRPV4
2 integument MP:0010771 9.13 AARS KIF1B TRPV4
3 muscle MP:0005369 8.8 AARS KIF1B 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 29 AARS

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

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

41
Skin, 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:

75
# 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.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
2 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh38 Chromosome 16, 70268356: 70268356
3 AARS NM_001605.2(AARS): c.211A> T (p.Asn71Tyr) single nucleotide variant Pathogenic rs387906792 GRCh37 Chromosome 16, 70310991: 70310991
4 AARS NM_001605.2(AARS): c.211A> T (p.Asn71Tyr) single nucleotide variant Pathogenic rs387906792 GRCh38 Chromosome 16, 70277088: 70277088
5 AARS NM_001605.2(AARS): c.1685C> T (p.Thr562Ile) single nucleotide variant Benign/Likely benign rs148355156 GRCh38 Chromosome 16, 70261144: 70261144
6 AARS NM_001605.2(AARS): c.1685C> T (p.Thr562Ile) single nucleotide variant Benign/Likely benign rs148355156 GRCh37 Chromosome 16, 70295047: 70295047
7 AARS NM_001605.2(AARS): c.2791G> A (p.Gly931Ser) single nucleotide variant Benign/Likely benign rs149377346 GRCh38 Chromosome 16, 70252837: 70252837
8 AARS NM_001605.2(AARS): c.2791G> A (p.Gly931Ser) single nucleotide variant Benign/Likely benign rs149377346 GRCh37 Chromosome 16, 70286740: 70286740
9 AARS NM_001605.2(AARS): c.2521-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200586605 GRCh37 Chromosome 16, 70287706: 70287706
10 AARS NM_001605.2(AARS): c.2521-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200586605 GRCh38 Chromosome 16, 70253803: 70253803
11 AARS NM_001605.2(AARS): c.2900A> T (p.Lys967Met) single nucleotide variant Benign/Likely benign rs35744709 GRCh37 Chromosome 16, 70286631: 70286631
12 AARS NM_001605.2(AARS): c.2900A> T (p.Lys967Met) single nucleotide variant Benign/Likely benign rs35744709 GRCh38 Chromosome 16, 70252728: 70252728
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 GRCh38 Chromosome 16, 70276971: 70276971
18 AARS NM_001605.2(AARS): c.328T> C (p.Phe110Leu) single nucleotide variant Likely pathogenic 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

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

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.62 KIF1B TRPV4

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.16 AARS TRPV4
2 microtubule binding GO:0008017 8.96 KIF1B TRPV4
3 ATP binding GO:0005524 8.8 AARS KIF1B TRPV4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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